Page last updated: 2024-08-17

galactose and Classic Galactosemia

galactose has been researched along with Classic Galactosemia in 767 studies

Research

Studies (767)

TimeframeStudies, this research(%)All Research%
pre-1990468 (61.02)18.7374
1990's103 (13.43)18.2507
2000's87 (11.34)29.6817
2010's76 (9.91)24.3611
2020's33 (4.30)2.80

Authors

AuthorsStudies
Arai-Ichinoi, N; Kikuchi, A; Kure, S; Wada, Y1
Ahn, Y; Bell, RD; Brophy, ML; Cheng, SH; Murphy, JE; Stansfield, JC1
Daenzer, JMI; Fridovich-Keil, JL; McKenna, J; Patel, S; Rasmussen, SA1
Andrews, A; Appiah, L; Hagen-Lillevik, S; Johnson, J; Lai, K; Longo, N; Rushing, JS1
De-Queiroz, ALFV; De-Souza, EA; Del Poeta, M; Fernandes, CM; Machado, CM; Masuda, CA; Montero-Lomeli, M; Pimentel, FSA; Silva, GFS1
Hu, OY; Huang, TY; Lau, JY; Shen, TY; Yang, P; Yu, KM1
Coelho, AI; Delnoy, B; Haskovic, M; Knoops, K; Lefeber, DJ; Martini, PGV; Noga, M; Rubio-Gozalbo, ME; Steinbusch, LKM; Vanoevelen, J; Vos, EN; Zimmermann, LJI1
Parenti, G; Rossi, A; Ruoppolo, M; Sacchettini, R; Succoio, M1
Hagen-Lillevik, S; Hale, G; Johnson, J; Lai, K; Persinger, J; Siddiqi, A1
Bosch, AM; Ferdinandusse, S; Hermans, ME; Hollak, CEM; Huidekoper, HH; Janssen, MCH; Pras-Raves, ML; van Kuilenburg, ABP; van Weeghel, M; Vaz, FM; Wamelink, MMC; Wanders, RJA; Welsink-Karssies, MM1
Adams, M; Balci, MC; Berry, GT; Bosch, AM; de Rezende Pinto, WBV; de Souza, PVS; DeLaO, A; Demirbas, D; Edman, J; Ficicioglu, C; Fridovich-Keil, JL; Goff, M; Hacker, S; Katler, QS; Knerr, I; Lancaster, K; Li, H; Mendelsohn, BA; Nichols, B; Patel, S; Paull, N; Rocha, JC; Rubio-Gozalbo, ME; Saad-Naguib, M; Scholl-Buergi, S; Searcy, S; Stepien, KM; Wittenauer, A1
Hagen-Lillevik, S; Johnson, J; Lai, K1
Achim, AC; Badiu Tișa, I; Cozma-Petruț, A1
Boyle, F; Knerr, I; McNulty, J; Milner, D1
Blaauw, GF; Dolman-Macleod, RC; Van Niekerk, E1
Correcher, P; García-Peris, M; González-Lamuño, D; Melendreras, F; Rausell, D; Vázquez-Palazón, A; Vitoria, I1
Balduini, A; Bastida, JM; Benito, R; Di Buduo, CA; Marín-Quílez, A; Rivera, J1
Bailey, E; Burbridge, C; Perfetti, R; Raither, L; Randall, JA; Shendelman, S; Sutter, C; Wang, S1
Druss, JJ; Fridovich-Keil, JL; Potter, NL; Rudd Zhong Manis, J1
Chernoff, RA; Druss, JJ; Fridovich-Keil, JL; Garrett, OS; Hendrickson, ET; Orloff, DH; Paull, NH; Smith, NH; Stettner, NM1
Akouri, R; Demir, N; Erman, M; Gunduz, T; Ozekinci, M; Sozen, B1
Chhapan, RJ; Ramappa, M; Yerramneni, R1
Cerone, J; Rios, A1
An, D; Balakrishnan, B; DeAntonis, C; Lai, K; Martini, PGV; Nguyen, V1
Abidin, Z; Treacy, EP1
Cheng, LY; Hagen, T; Henke, W; J Zhou, JF; Oh, SL1
Berry, GT; Bierau, J; Coelho, AI; Haskovic, M; Rubio-Gozalbo, ME; Steinbusch, LKM; Vanoevelen, JM; Villamor-Martinez, E; Zimmermann, LJI1
Daenzer, JMI; Fridovich-Keil, JL; Geurts, AM; Head, ST; MacWilliams, JA; Rasmussen, SA; Schroeder, JP; Weinshenker, D; Williams, MB1
Delbrouck, J; Elling, L; Gottschalk, J; Grabany, S; Hanisch, FG; Janes, V; Vincent, SP1
Timson, DJ2
Bierau, J; Coelho, AI; Haskovic, M; Lefeber, DJ; Lindhout, M; Rubio-Gozalbo, ME; Vanoevelen, JM; Veizaj, R; Vos, R; Zijlstra, F1
Inoue, N; Irabu, H; Kaneko, S; Mizuta, M; Ohta, K; Shimizu, M; Yachie, A1
Almabayeva, A; Askarova, S; Bulanin, D; Masoud, AR; Saliev, T; Umbayev, B1
Daenzer, JMI; Fridovich-Keil, JL; Rasmussen, SA1
Dženkaitis, M; Kučinskienė, R; Labanauskas, L; Rokaitė, R; Traberg, R1
Banford, S; Timson, DJ1
Carlock, G; Fridovich-Keil, JL; MacWilliams, J; Patel, S; Potter, NL; Vest, S1
Behulova, D; Bzduch, V; Gerinec, A; Tomcikova, D1
Cutler, DJ; Frederick, AB; Fridovich-Keil, JL1
Chatzidaki, M; Dotsikas, Y; Iakovou, K; Loukas, YL; Molou, E; Schulpis, KH; Thodi, G1
Balogh, L; Kiss, E; Reismann, P1
Coffee, B; Pasquali, M; Yu, C1
Berry, GT; Coelho, AI; Demirbas, D; Rubio-Gozalbo, ME1
Boelen, A; Bosch, AM; Bouva, MJ; de Jonge, R; Heijboer, AC; Schielen, PCJI; Stroek, K; Vaz, FM1
Brueckheimer, MB; Cruz, IR; Delwing-Dal Magro, D; Delwing-de Lima, D; Lorenzini, MS; Maia, TP; Mews, MHR; Sala, GABN; Sasso, S1
Bosch, AM; Brady, J; Catherine Moss, C; Colhoun, HO; Dawson, C; Doran, PP; Fitzgibbon, M; Galligan, M; Knerr, I; O'Flaherty, R; Peter Barker, P; Rubio Gozalbo, EM; Stepien, K; Treacy, EP1
Ben-Harosh, M; Dgany, O; Doulatov, S; Gulsuner, S; King, MC; Krasnov, T; Pierce, S; Seo, A; Shalev, H; Shimamura, A; Tamary, H; Walsh, T1
Iakovou, K; Kalogerakou, M; Schulpis, K1
Aoki, Y; Arai-Ichinoi, N; Fujiki, R; Fukao, T; Funayama, R; Hirai, H; Ishige, M; Ito, T; Iwasawa, S; Kikuchi, A; Koshiba, S; Kure, S; Nakajima, Y; Nakayama, K; Niihori, T; Nyuzuki, H; Ogawa, E; Ohara, O; Sakamoto, O; Sasai, H; Shirota, M; Takezawa, Y; Wada, Y; Yamamoto, M1
Achten, J; Berry, GT; Bierau, J; Coelho, AI; Demirbas, D; Derks, B; Haskovic, M; Huang, X; Mackinnon, S; Nyakayiru, J; Peake, RWA; Qi, W; Rubio-Gozalbo, ME; Trommelen, J; van der Ploeg, L; van Loon, LJC; Yue, WW; Zha, L1
Barrett, CE; Carlock, G; Coles, CD; Edwards, SM; Epstein, MP; Fischer, ST; Fridovich-Keil, JL; Kable, JA; Lynch, ME; Mulle, JG; Potter, NL; Wilson, E1
Frederick, AB; Fridovich-Keil, JL; Jones, DP; Li, S; Taylor Fischer, S; Tran, V1
Berry, GT; Daesety, V; Demirbas, D; Feenstra, S; Gubbels, CS; Haskovic, M; Hecht, L; Huang, X; Levy, HL; Qi, W; Waisbren, SE1
Arai-Ichinoi, N; Iwasawa, S; Kikuchi, A; Kure, S; Sakamoto, O; Tamiya, G; Wada, Y1
Blaga, L; Căinap, SS; Deleanu, C; Fufezan, O; Grama, A; Militaru, M; Nicolescu, A; Pop, I; Pop, TL; Sîrbe, C; Tita, G; Vințan, MA; Vulturar, R1
Kovtun, S; Varma, SD1
Chiappori, F; Marabotti, A; Merelli, I; Milanesi, L1
Cardoso, MT; Coelho, AI; Costa, C; de Almeida, IT; Diogo, L; Ferreira, E; Garcia, P; Gaspar, A; Leite, M; Martins, E; Oliveira, A; Paiva, S; Ramos, R; Rivera, I; Rodrigues, E; Sequeira, S; Silva, MJ; Teles, EL; Vicente, JB1
Batinic-Haberle, I; Bishop, HM; Fridovich-Keil, JL; Hopson, ML; Jones, DP; Jumbo-Lucioni, PP; Liang, Y; Ryan, EL; Spasojevic, I; Tovmasyan, A; Weitner, T1
Al-Essa, M; Al-Qabandi, W; Dhaunsi, GS; Khan, I1
da-Silva, WS; De-Souza, EA; Machado, CM; Martins, LS; Masuda, CA; Montero-Lomelí, M; Pimentel, FS1
Cho, D; Kim, MI; Park, HG; Woo, MA1
Bernstein, LE; Berry, GT; Rohr, FJ; Scaman, CH; Van Calcar, SC; Yannicelli, S2
Barceló, A; Bauça, JM; Morell-Garcia, D; Perez-Esteban, G; Vila, M1
BRODIE, JL2
Bodamer, OA; Chen, W; Fraser, N; Goli, H; Johnson, B; Lai, K; Rascon, R; Siddiqi, A; Tang, M; Witt, B; Yin, X; Yuzyuk, T1
Fridovich-Keil, JL; Neumann, SE; Pyhtila, BM; Shaw, KA1
Mesa-Torres, N; Padín-Gonzalez, E; Pey, AL; Timson, DJ1
Hammen, HW; Kamalanathan, L; Kotzka, J; Schadewaldt, P; Wendel, U1
Broadie, K; Jumbo-Lucioni, P; Parkinson, W1
Ciampo, LA; Ferrioli, E; Junior, JS; Pfrimer, K; Porta, G; Resende-Campanholi, DR1
Balachander, B; Bharadwaj, SK; Bhat, BV; Mondal, N1
Adam, S; Akroyd, R; Bernabei, S; Bollhalder, S; Boocock, S; Burlina, A; Coote, T; Corthouts, K; Dalmau, J; Dawson, S; De Meyer, A; Defourny, S; Desloovere, A; Devlin, Y; Diels, M; Dokoupil, K; Donald, S; Evans, S; Fasan, I; Ferguson, C; Ford, S; Forga, M; Gallo, G; Grünert, SC; Heddrich-Ellerbrok, M; Heidenborg, C; Jonkers, C; Lefebure, K; Luyten, K; MacDonald, A; Meyer, U; Micciche, A; Müller, E; Portnoi, P; Ripley, S; Robert, M; Robertson, LV; Rosenbaum-Fabian, S; Sahm, K; Schultz, S; Singleton, K; Sjöqvist, E; Stoelen, L; Terry, A; Thompson, S; Timmer, C; van der Ploeg, L; Van Driessche, M; van Rijn, M; van Teeffelen-Heithoff, A; Vande Kerckhove, K; Vitoria, I; Voillot, C; Wenz, J; Westbrook, M; Wildgoose, J; Zweers, H1
Berry, GT; Coelho, AI; Rubio-Gozalbo, ME1
Clark, A; Coss, KP; Crushell, E; Doran, P; Knerr, I; Kratzsch, J; Rudd, PM; Shin, Y; Stöckmann, H; Treacy, E1
Ansari, J; Kianmehr, A; Mahrooz, A; Oladnabi, M; Shahbazmohammadi, H1
Chalk, R; Fitzpatrick, F; Kopec, J; McCorvie, TJ; Patel, D; Pey, AL; Shrestha, L; Yue, WW1
Daenzer, JM; Fridovich-Keil, JL; Garza, KR; Hopson, ML; Jumbo-Lucioni, PP; Ryan, EL1
Escarpa, A; García-Carmona, L; González, MC; Rojas, D1
Kalogerakou, M; Monopolis, I; Schulpis, K1
Huang, M; McAuley, M; Timson, DJ1
Bernstein, LE; Berry, GT; Bosch, AM; Burlina, AB; Eyskens, F; Gautschi, M; Grünewald, S; Gubbels, CS; Knerr, I; Labrune, P; MacDonald, A; Murphy, E; Õunap, K; Portnoi, PA; Potter, NL; Rubio-Gozalbo, ME; Spencer, JB; Timmers, I; Treacy, EP; Van Calcar, SC; van der Lee, JH; Waisbren, SE; Welling, L1
Daenzer, JM; Fridovich-Keil, JL1
Boelen, A; Bosch, AM; de Vries, M; Derks, TG; Schielen, PC; Welling, L; Wijburg, FA; Williams, M1
Hanisch, FG; Müller, S; Pekmez, M; Staubach, S1
De-Queiroz, ALFV; De-Souza, EA; Gomes, FM; Machado, CM; Masuda, CA; Montero-Lomelí, M; Pimentel, FSA; Silva, GFS1
Coelho, AI; Rivera, I; Rubio-Gozalbo, ME; Vicente, JB1
Boers, GH; Bosch, AM; Guion, N; Hammen, HW; Janssen, M; Kamalanathan, L; Schadewaldt, P; Schwarz, M; Wendel, U1
ENNIS, JM; GOLDSTEIN, EO1
Day-Salvatore, DL; Ficicioglu, C; Forbes, BJ; Gallagher, PR; Hussa, C; Mattie, A; Thomas, N; Yager, C1
Hong, SP; Jeong, JS; Kwon, HJ; Lee, YM; Yoon, HR1
Clark, A; Geoghegan, O; Hendroff, U; Hughes, J; Lambert, D; Monavari, A; Rogers, Y; Ryan, S; Treacy, EP; Twomey, E1
Camargo, AS; Camelo, JS; de Souza, LO; Fernandes, MI; Giugliani, R; Jorge, SM; Leite, PC; Maciel, LM; Passador, CS; Resende, DR; Santos, JL; Scrideli, CA1
MacDonald, A; Portnoi, PA2
Doehmen, S; Joussen, AM; Kociok, N; Koizumi, K; Krohne, TU; Le, ML; Poulaki, V; Radetzky, S; Semkova, I1
Elsas, LJ; Lai, K; Wierenga, KJ1
Ficicioglu, C; Finegold, D; Freer, DE1
Jun, SH; Kim, JQ; Ko, DH; Park, HD; Park, KU; Song, J; Song, SH; Song, YH1
Alonso-Fernandez, JR; Baleato, J; Carpinteiro, MI; Fidalgo, J1
Fernhoff, PM1
Ficicioglu, C; Gallagher, PR; Hussa, C; Thomas, N; Yager, C1
Bosch, AM2
Hoffmann, B; Mayatepek, E; Meissner, T1
Fridovich-Keil, JL; Gubbels, CS; Land, JA; Rubio-Gozalbo, E; Sanders, RD; Spencer, JB1
Berry, GT2
Hennermann, JB; Klein, J; Mönch, E; Schadewaldt, P; Shin, YS; Vetter, B1
Joost, K; Krabbi, K; Õunap, K; Uudelepp, ML; Zordania, R1
Hong, SP; Kwon, HJ; Lee, JY; Lee, YM; Sim, HJ; Yoon, HR1
Abrahams, JL; Adamczyk, B; Brown, AY; Byrne, JC; Carolan, C; Coman, DJ; Coss, KP; Hendroff, U; Rudd, PM; Saldova, R; Treacy, EP; Walsh, O1
Cho, D; Kim, MI; Lee, J; Li, T; Park, HG; Shim, J; Woo, MA1
Baric, I; Berry, GT; Bosch, A; Burlina, A; Chiesa, A; Estrada, SC; Fridovich-Keil, JL; Garber, K; Henderson, H; Jumbo-Lucioni, PP; Kiel, J; Leslie, N; Longo, N; Morris, AA; Pico, ML; Ramirez-Farias, C; Scheweitzer-Krantz, S; Schweitzer-Krantz, S; Silao, CL; Vela-Amieva, M; Waisbren, S1
Frazer, A; Fridovich-Keil, JL; Gleason, TJ; Liu, Y; McCorvie, TJ; Timson, DJ1
DuBoff, B; Feany, MB; Fridovich-Keil, JL; Ryan, EL1
Berry, GT; Castañeda, U; Fridovich-Keil, JL; Gleason, TJ; He, M; Liu, Y; Xia, B1
Fridovich-Keil, JL; Hang, D; Hopson, ML; Jones, DP; Jumbo-Lucioni, PP; Liang, Y1
Koppolu, P; Kowluru, RA1
Balazs, ND; Newman, JD; Ramsden, CA1
Chen, J; Reynolds, R; Segal, S; Wehrli, SL; Yager, C1
Bandyopadhyay, S; Banerjee, S; Bhattacharyya, D; Chakrabarti, J; Chakravarty, BN; Goswami, SK; Kabir, SN; Pal, AK1
Elsas, LJ; Kennedy, MJ; Singh, RH; Webb, AL1
Gosnell, K; Gropper, SS; Weese, SJ; West, P1
Forges, T; Monnier-Barbarino, P1
Cheng, LY; Cheung, AL; Lai, KW; O, WS1
Leslie, ND1
Bakker, HD; Bosch, AM; van Gennip, AH; van Kempen, JV; Wanders, RJ; Wijburg, FA1
Holden, HM; Rayment, I; Thoden, JB1
Lee, PJ; Lilburn, M; Schadewaldt, P; Wendel, U1
LOPRESTI, JM1
CROOKS, R; EDMONDS, AM; HENNIGAR, GR1
MARIS, L; VALCKE, J1
PATZ, A1
JOHNS, D1
ALLORE, S1
STEINER, MM1
KOMROWER, GM3
BIRDSONG, M; WOOD, JB1
JOHNSON, J1
McAULEY, FD1
HUDSON, FP; IRELAND, JT; OCKENDEN, BG; WHITE-JONES, RH1
HOLZEL, A3
LOCKHART, JD; ROBOZ, E1
BICKEL, H; THURSBY-PELHAM, DC1
ROBERTSON, GK1
DARLING, S; MORTENSEN, O1
COX, PJ1
ARTHURTON, MW; MEADE, BW1
GELLIS, SS; GREEN, S; HSIA, HH; KAY, M; YI-YUNG HSIA, D1
ROMANI, L1
MORTENSEN, O; SONDERGAARD, G3
LODDING, C1
SMITH, FM1
HAYES, MS1
SOUCHON, F1
ETIENNE, R; PAUFIQUE, L1
GOLBERG, L; HOLZEL, A; KOMROWER, GM; SCHWARZ, V2
DURAND, P; SEMACH, F1
ANDERSON, EP; ISSELBACHER, KJ; KALCKAR, HM; KURAHASHI, K2
ANDERSON, EP; ISSELBACHER, KJ; KALCKAR, HM3
HIRD, FJ; MOORE, AE; PERRY, JW; THOMAS, DA1
BAIN, HW; BOWDEN, DH; CHUTE, AL; JACKSON, SH; SASS-KORTSAK, A; WALKER, NF1
HOLZEL, A; KOMROWER, GM; SCHWARZ, V3
RODIER, P1
DALAUT, JC; GILLOT, F; SCHAEFER, JC1
CABASSA, N; CAREDDU, P1
WILHELM, RE1
BYNUM, E; KALCKAR, HM; MAXWELL, ES1
DURAND, P2
BERGREN, WR; DONNELL, G; KALCKAR, HM1
BENNETT, CE1
ACKER, R; HENCKEL, H; SCHREIER, K1
SCHULTZE-JENA, BS1
DONNELL, GN; WILSON, WA1
ELIACHAR, E; LESTRADET, H; MARIE, J; RAPPOPORT, R; ROYER, P1
DRABIKOWSKI, W1
PENINGTON, JS; PRANKERD, TA1
ZELLWEGER, HU1
JACOBSON, FM1
BULGARELLI, R; FASSONE, MG1
DRISCOLL, SG; HSIA, DY; HUANG, I1
LERMAN, S2
AIMAN, R; BHIDE, NK; KULKARNI, RD; SADRE, NL1
MILLIS, SC1
YBEMA, HJ1
KALCKAR, HM; KIRKMAN, HN1
COLLIPP, PJ; DONNELL, GN1
COTTE, J; LARBRE, F; MONNET, P; TISSOT, A1
CARRON, R; COTTE, J; DUC, H; JEUNE, M1
DOBRZANSKA, A1
ANDERSON, IM1
BAUER, R1
ISSELBACHER, KJ1
SOCKWELL, GD1
KALCKAR, HM2
BAGOT, T; CALDERA, R; PRINGUET, G; ROSSIER, A1
GROSS, RT; MARKS, PA1
ABOUL WAFA, MH; BADR EL-DIN, MK1
CHRISTIAN, JR; DIAMOND, EF1
GITZELMANN, R; HADORN, B1
HSIA, DY; HUANG, I; SCHNEIDER, JA; SIMPSON, K; TANNENBAUM, M1
HSIA, DY; HUGH-JONES, K; NEWCOMB, AL1
COLLADO, M; DONNELL, GN; KOCH, R1
MELIS, R; ROVINSKI, J1
PATTERSON, JW1
BEAUDOING, A; GILBERT, Y; ROGET, J1
SCHWARZ, V3
KROOTH, RS; WEINBERG, AN1
TOLSTRUP, N1
BERNHEIM, M; FOURNIER, P; FRANCOIS, R; GILLY, R; JOSSERAND, P1
DAWSON, SP; HICKMAN, RO; KELLEY, VC1
BERGREN, WR; CLELAND, RS; DONNELL, GN1
BERGREN, WR; BRETTHAUER, RK; DONNELL, GN; HANSEN, RG1
BERGREN, WR; DONNELL, GN; ROLDAN, M1
SVEJCAR, J1
CHOREMIS, C; KARPOUZAS, J; KATERELOS, C; VLACHOS, J1
CROME, L1
DAYAL, RS; MATHUR, GP; PRASAD, R1
DUBOIS, R; LOEB, H; OOMS, HA1
EGGERMONT, E; HERS, HG1
FREZAL, J; REY, J1
ADAM, H; FRIEDRICH, E; ROUPERT, G1
HOLZEL, A; KOMROWER, GM; SCHWARZ, V; WELLS, AR1
VERRON, G1
NORDMANN, J2
FROESCH, ER; PRADER, A1
AKABANE, J; TADA, K; YOKOYAMA, M1
LASTER, L; SEGAL, S; TOPPER, YJ1
DORMANDY, TL; SAMOLS, E1
de VERDIER, C; HJELM, M1
HSIA, DY; SLATIS, HM; STEINBERG, AG; WALKER, FA1
WEINBERG, AN1
BREWER, GJ; TARLOV, AR1
HSIA, DY; WALKER, FA2
BOWDEN, CH1
BEYREISS, K; MUELLER, F; STRACK, E1
ARAKAWA, M; TADA, H1
COTLIER, E1
HSIA, DY; INOUYE, T; SOUTH, A; WONG, P1
FULD, J; LONDON, M; MARYMONT, JH1
NATZSCHKA, J; WERNER, E1
BAAR, HS; GORDON, M1
DUBIN, A; MCKENNA, CH; NEWCOMER, A; WALDSTEIN, SS1
GOMMI, BW; WOOLLEY, DW1
BERGREN, WR; DONNELL, GN; WONGIN, NG1
BERGEN, WR; DONNELL, GN; NG, WG1
KOPECKY, A1
FORD, JD; HAWORTH, JC; ISRAELS, LG; ROWLAND, M; ZIPURSKY, A1
HERVEI, S; KISS, S; SCHULER, D1
EGAN, TJ; PITTMAN, TA; WELLS, WW1
BLAIR, A; ROTH, H; SEGAL, S2
ORSHANSKAIA, RE; VARES, AM1
PATTERSON, JW; PATTERSON, ME1
KINSEY, VE; PATTERSON, JW; PATTERSON, ME; REDDY, DV1
AURICCHIO, S; GITZELMANN, R1
FENTON, JC1
SEGAL, S; SPATZ, M1
BERGER, H1
CHARRAT, A; LOAEC, Y1
CANNON, EJ; RITTER, JA1
CLAY, PR; POTTER, CT1
CUSWORTH, DC; DENT, CE; FLYNN, FV1
HOLZEL, A; KOMROWER, GM1
RATHBUN, JC1
GERRARD, JW; ROSS, CA; SALT, HB1
BICKEL, H1
HAAS, L; NEWMAN, C1
HOLLMANN, S1
HSIA, DY; HUANG, I; HUGH-JONES, K1
JONES, NL; LEAK, D1
KIRKMAN, HN1
COTTE, J; GAUTHIER, J; GAY, Y; MONNET, P; SCHERRER, M1
PESCH, LA; SEGAL, S; TOPPER, YJ1
CAREDDU, P; SCHWARZ-TIENE, E1
HSIA, DY; INOUYE, T; WALKER, FA1
MOULEDOUS, P1
NELSON, DA; RICHARDSON, EM1
BRETTHAUER, RK; HANSEN, RG; NORDIN, JH1
ROSCHLAU, G1
FISCHER, K; GRUETTNER, R; SCHAEFER, KH1
Hammen, HW; Kamalanathan, L; Killius, S; Schadewaldt, P; Strassburger, K; Wendel, U1
Hammen, HW; Kamalanathan, L; Schadewaldt, P; Wendel, U2
Hammen, HW; Kamalanathan, L; Schadewaldt, P; Stolpmann, S; Wendel, U1
Hartnett, C; Jim, VJ; Scaman, CH1
DONNELL, GN; LANN, SH1
DuSHANE, JW; HARTMAN, EE1
MASON, HH; STRONG, PS; TOWNSEND, EH1
ELLENBURG, LL; PETERSON, JC1
ENNS, JH1
ANDERSON, WC; FALLS, HF; LOWREY, GH1
HOLZEL, A; KOMROWER, GM; WILSON, VK1
DE HAAS, PK1
BRAY, PT; ISAAC, RJ; WATKINS, AG1
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Holtzapple, PG; Mellman, WJ; Rogers, S; Segal, S1
Lindskov, J1
Johansson, S; Thalme, B; Werner, B1
Dahlqvist, A; Gamstorp, I; Madsen, H1
Mayes, JS; Miller, LR; Myers, FK1
Rommel, K1
Thalhammer, O1
Duke, JR; Richter, CP1
Hager-Malecka, B; Sychlowy, A; Szczepański, Z1
Beutler, E; Casey, EC; Monteleone, JA; Monteleone, PL; Utz, CL1
Coodin, FJ; Haworth, JC1
Donnell, GN; Hallatt, JG; Ng, WG; Roe, TF1
Gitzelmann, R; Poley, JR; Prader, A1
DeMars, R; Russell, JD1
Cramer, K; Rommel, K1
Beaty, C; Cotlier, E1
Gabbay, KH; O'Sullivan, JB1
Göthe, S; Linneweh, F1
Gitzelmann, R; Pantlitschko, M; Thalhammer, O1
Sitzmann, FC1
Tengström, B; Wranne, L1
Abraham, HD; Howell, RR1
Keiding, S; Tygstrup, N1
Schwarz, V; Simpson, IM1
von Berg, W1
Milhaud, G; Tron, P1
Kaplan, JC; Schapira, F1
Dahlqvist, A; Svenningsen, NW1
Ionăşescu, V; Luca, N1
Kinoshita, JH1
Becker, B; Cotlier, E1
Ulbricht, J1
Quan-Ma, R; Wells, WW1
Caldeira, JA; Monteiro, DC; Ramos, AO; Schmidt, BJ1
Egan, TJ; Wells, WW1
Egan, TJ; Quan-Ma, R; Sherman, FE; Wells, HJ; Wells, WW1
Beutler, E; Mathai, CK; Pilson, ME1
Nunes, CS; Rychen, G1
Kirschbaum, BB1
Widdas, WF1
Brown, BD; Brunngraber, EG; Hof, H1
Bryla, R1

Reviews

59 review(s) available for galactose and Classic Galactosemia

ArticleYear
Pathophysiology and management of classic galactosemic primary ovarian insufficiency.
    Reproduction & fertility, 2021, Volume: 2, Issue:3

    Topics: Animals; Disease Models, Animal; Female; Fertility; Galactose; Galactosemias; Humans; Mice; Ovary

2021
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
    Biomolecules, 2022, 07-11, Volume: 12, Issue:7

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Molecular Biology; Neonatal Screening; UTP-Hexose-1-Phosphate Uridylyltransferase

2022
The Importance of Neonatal Screening for Galactosemia.
    Nutrients, 2022, Dec-20, Volume: 15, Issue:1

    Topics: Animals; Galactose; Galactosemias; Humans; Infant, Newborn; Mutation; Neonatal Screening; UTP-Hexose-1-Phosphate Uridylyltransferase

2022
Diagnosing the oil drop: A case report and review of the literature.
    Indian journal of ophthalmology, 2019, Volume: 67, Issue:10

    Topics: Cataract; Cataract Extraction; Child, Preschool; Crystallins; Electrophoresis; Galactose; Galactosemias; Humans; Lens Implantation, Intraocular; Male

2019
Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia.
    International journal of molecular sciences, 2019, Oct-22, Volume: 20, Issue:20

    Topics: Female; Fertility Preservation; Galactose; Galactosemias; Humans

2019
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:3

    Topics: Animals; Disease Models, Animal; Galactokinase; Galactose; Galactosemias; Genotype; Humans; Oxidative Stress; Phenotype; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

2020
Galactose-Induced Skin Aging: The Role of Oxidative Stress.
    Oxidative medicine and cellular longevity, 2020, Volume: 2020

    Topics: Animals; Antioxidants; Cellular Senescence; Collagen; Galactose; Galactosemias; Glycosylation; Humans; Oxidative Stress; Skin; Skin Aging

2020
Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel
    Medicina (Kaunas, Lithuania), 2020, Oct-25, Volume: 56, Issue:11

    Topics: Escherichia coli; Galactose; Galactosemias; Humans; Infant, Newborn; Lithuania; Mutation; UTP-Hexose-1-Phosphate Uridylyltransferase

2020
The structural and molecular biology of type IV galactosemia.
    Biochimie, 2021, Volume: 183

    Topics: Carbohydrate Epimerases; Galactose; Galactosemias; Humans; Mutation; Protein Conformation, beta-Strand

2021
[Diet treatment of classical galactosemia].
    Orvosi hetilap, 2017, Volume: 158, Issue:47

    Topics: Diet, Healthy; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male

2017
Hereditary galactosemia.
    Metabolism: clinical and experimental, 2018, Volume: 83

    Topics: Female; Galactokinase; Galactose; Galactosemias; Genetic Counseling; Genetic Predisposition to Disease; Genotype; Humans; Infant, Newborn; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

2018
Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.
    Molecular genetics and metabolism, 2018, Volume: 124, Issue:1

    Topics: Cataract; Galactose; Galactosemias; Humans; Infant, Newborn; Neonatal Screening; Netherlands; Practice Guidelines as Topic; Randomized Controlled Trials as Topic; Retrospective Studies

2018
A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia.
    Molecular genetics and metabolism, 2014, Volume: 112, Issue:3

    Topics: Age Factors; Diet, Carbohydrate-Restricted; Food; Galactose; Galactosemias; Humans

2014
Galactose metabolism and health.
    Current opinion in clinical nutrition and metabolic care, 2015, Volume: 18, Issue:4

    Topics: Carbohydrate Metabolism; Galactose; Galactosemias; Humans

2015
The molecular basis of galactosemia - Past, present and future.
    Gene, 2016, Sep-10, Volume: 589, Issue:2

    Topics: Antioxidants; Chromosome Mapping; Galactokinase; Galactose; Galactosemias; Gene Expression; Genome, Human; History, 20th Century; History, 21st Century; Humans; Molecular Chaperones; Oxidative Stress; Proteasome Inhibitors; Protein Folding; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
    Journal of inherited metabolic disease, 2017, Volume: 40, Issue:2

    Topics: Evidence-Based Medicine; Follow-Up Studies; Galactose; Galactosemias; Humans; Metabolism, Inborn Errors

2017
Drosophila melanogaster Models of Galactosemia.
    Current topics in developmental biology, 2017, Volume: 121

    Topics: Animals; Disease Models, Animal; Drosophila melanogaster; Galactokinase; Galactose; Galactosemias; Humans; UDPglucose 4-Epimerase

2017
Sweet and sour: an update on classic galactosemia.
    Journal of inherited metabolic disease, 2017, Volume: 40, Issue:3

    Topics: Animals; Galactose; Galactosemias; Humans; UDPglucose-Hexose-1-Phosphate Uridylyltransferase

2017
Galactose toxicity in animals.
    IUBMB life, 2009, Volume: 61, Issue:11

    Topics: Animals; Galactitol; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Inositol; Models, Animal; Neonatal Screening; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

2009
Inborn errors of carbohydrate metabolism.
    Best practice & research. Clinical gastroenterology, 2010, Volume: 24, Issue:5

    Topics: Adult; Child; Dietary Carbohydrates; Fructose Intolerance; Fructose Metabolism, Inborn Errors; Fructose-1,6-Diphosphatase Deficiency; Galactose; Galactosemias; Glycogen Storage Disease; Humans; Infant; Liver Diseases; Liver Transplantation; Prognosis

2010
Ovarian function in girls and women with GALT-deficiency galactosemia.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:2

    Topics: Adolescent; Adult; Animals; Child; Epigenesis, Genetic; Escherichia coli; Female; Follicle Stimulating Hormone; Galactose; Galactosemias; Humans; Ovary; Primary Ovarian Insufficiency; Puberty; Sepsis

2011
Is prenatal myo-inositol deficiency a mechanism of CNS injury in galactosemia?
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:2

    Topics: Animals; Brain; Central Nervous System Diseases; Chelating Agents; Female; Galactose; Galactosemias; Humans; Hydrolysis; Mice; Phosphoric Monoester Hydrolases; Pregnancy; Pregnancy, Animal; RNA, Messenger; UTP-Hexose-1-Phosphate Uridylyltransferase

2011
Galactosemia: when is it a newborn screening emergency?
    Molecular genetics and metabolism, 2012, Volume: 106, Issue:1

    Topics: Galactose; Galactosemias; Galactosephosphates; Genotype; Humans; Infant, Newborn; Mutation; Neonatal Screening; Polymorphism, Genetic; UTP-Hexose-1-Phosphate Uridylyltransferase

2012
[Premature ovarian failure in galactosaemia: pathophysiology and clinical management].
    Pathologie-biologie, 2003, Volume: 51, Issue:1

    Topics: Estrogen Replacement Therapy; Female; Galactose; Galactosemias; Heterozygote; Humans; Pregnancy; Primary Ovarian Insufficiency; UTP-Hexose-1-Phosphate Uridylyltransferase

2003
Insights into the pathogenesis of galactosemia.
    Annual review of nutrition, 2003, Volume: 23

    Topics: Animals; Disease Models, Animal; Galactose; Galactosemias; Gene Expression Regulation, Enzymologic; Humans; Liver; Mice; Mice, Knockout; UDPglucose-Hexose-1-Phosphate Uridylyltransferase

2003
Clinical features of galactokinase deficiency: a review of the literature.
    Journal of inherited metabolic disease, 2002, Volume: 25, Issue:8

    Topics: Carbohydrate Metabolism, Inborn Errors; Cataract; Galactokinase; Galactose; Galactosemias; Humans; Pseudotumor Cerebri

2002
Structure and function of enzymes of the Leloir pathway for galactose metabolism.
    The Journal of biological chemistry, 2003, Nov-07, Volume: 278, Issue:45

    Topics: Adenosine Triphosphate; Binding Sites; Carbohydrate Epimerases; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Humans; Models, Molecular; Phosphorylation; UDPglucose 4-Epimerase; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose; UTP-Hexose-1-Phosphate Uridylyltransferase

2003
Alternative pathways of galactose assimilation: could inverse metabolic engineering provide an alternative to galactosemic patients?
    Metabolic engineering, 2004, Volume: 6, Issue:3

    Topics: Animals; Galactose; Galactosemias; Gene Targeting; Humans; Protein Engineering; Recombinant Proteins; Signal Transduction

2004
Galactokinase: structure, function and role in type II galactosemia.
    Cellular and molecular life sciences : CMLS, 2004, Volume: 61, Issue:19-20

    Topics: Animals; Bacterial Proteins; Catalysis; Crystallography, X-Ray; Galactokinase; Galactose; Galactosemias; Humans; Kinetics; Models, Chemical; Models, Molecular; Multigene Family; Protein Conformation; Protein Structure, Secondary; Substrate Specificity; Transcription, Genetic

2004
[Galactokinase deficiency].
    Annales de pediatrie, 1976, May-02, Volume: 23, Issue:5

    Topics: Cataract; Female; Galactokinase; Galactose; Galactosemias; Gene Frequency; Heterozygote; Humans; Infant; Infant, Low Birth Weight; Infant, Newborn; Infant, Premature, Diseases; Intracranial Hypertension; Male; Pedigree; Prognosis; Rare Diseases; Risk Factors; Sex Distribution

1976
Classical galactosaemia revisited.
    Journal of inherited metabolic disease, 2006, Volume: 29, Issue:4

    Topics: Bone Density; Child, Preschool; Diet; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Models, Biological; Neonatal Screening; Quality of Life

2006
Galactosemia: the good, the bad, and the unknown.
    Journal of cellular physiology, 2006, Volume: 209, Issue:3

    Topics: Animals; Galactose; Galactosemias; Glycolipids; Glycoproteins; Humans

2006
[Galactosemia].
    Nihon rinsho. Japanese journal of clinical medicine, 2006, Sep-28, Volume: Suppl 3

    Topics: Contraindications; Diagnosis, Differential; Diet Therapy; Galactokinase; Galactose; Galactosemias; Humans; Infant Food; Infant, Newborn; Mutation; Neonatal Screening; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

2006
Diabetic and galactosaemic cataracts.
    Ciba Foundation symposium, 1984, Volume: 106

    Topics: Aldehyde Reductase; Animals; Cataract; Diabetes Complications; Diabetes Mellitus; Diabetes Mellitus, Experimental; Galactose; Galactosemias; Glucose; Humans; Imidazoles; Imidazolidines; Intracellular Fluid; Lens, Crystalline; Mice; Osmosis; Rats; Sugar Alcohols

1984
Metabolic effects of dietary galactose.
    World review of nutrition and dietetics, 1982, Volume: 39

    Topics: Adult; Animals; Blood Glucose; Cataract; Dietary Carbohydrates; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Insulin; Lactose; Lactose Intolerance; Male; Rats

1982
Gonadal function in galactosemics and in galactose-intoxicated animals.
    European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2

    Topics: Animals; Female; Galactose; Galactosemias; Gonads; Humans; Male; Poisoning

1995
Galactose-1-phosphate in the pathophysiology of galactosemia.
    European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2

    Topics: Galactose; Galactosemias; Galactosephosphates; Glucose; Humans; Infant, Newborn; Phosphorylation

1995
Defective galactosylation in galactosemia: is low cell UDPgalactose an explanation?
    European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2

    Topics: Galactose; Galactosemias; Humans; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose

1995
Effects of galactosemia in utero.
    European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2

    Topics: Female; Fetal Diseases; Galactose; Galactosemias; Humans; Male

1995
Hidden sources of galactose in the environment.
    European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2

    Topics: Carbohydrate Sequence; Female; Food Analysis; Galactose; Galactosemias; Humans; Molecular Sequence Data

1995
[Tests for galactose metabolism].
    Nihon rinsho. Japanese journal of clinical medicine, 1997, Volume: 55 Suppl 1

    Topics: Diagnosis, Differential; Galactokinase; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Mass Screening; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

1997
The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.
    Trends in genetics : TIG, 1998, Volume: 14, Issue:3

    Topics: Carbohydrate Sequence; Female; Follicle Stimulating Hormone; Galactose; Galactosemias; Humans; Molecular Sequence Data; Mutation; Nervous System Diseases; Ovarian Diseases; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

1998
[Galactose-1-phosphate uridyltransferase deficiency].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Carbohydrate Metabolism, Inborn Errors; Contraindications; Diagnosis, Differential; Female; Galactose; Galactosemias; Genes, Recessive; Humans; Infant, Newborn; Mutation; Neonatal Screening; Pregnancy; Prenatal Diagnosis; Prognosis; UTP-Hexose-1-Phosphate Uridylyltransferase

1998
[Galactokinase deficiency].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Diagnosis, Differential; Galactokinase; Galactose; Galactosemias; Humans; Prognosis

1998
[Galactose].
    Nihon rinsho. Japanese journal of clinical medicine, 1999, Volume: 57 Suppl

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Neonatal Screening

1999
[Congenital disorders of galactose metabolism].
    Medizinische Klinik, 1975, Mar-21, Volume: 70, Issue:12

    Topics: Austria; Black or African American; Black People; Carbohydrate Epimerases; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Female; Galactose; Galactosemias; Genetic Counseling; Germany, West; Heterozygote; Homozygote; Humans; Hungary; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Nucleotidyltransferases; Phosphotransferases; Pregnancy; Prenatal Diagnosis; Prognosis

1975
Galactosaemia and the problem of galactose toxicity.
    Biochemical Society transactions, 1975, Volume: 3, Issue:2

    Topics: Animals; Cataract; Female; Galactose; Galactosemias; Genes; Heterozygote; Hexosephosphates; Homozygote; Humans; Nucleotidyltransferases; Phosphotransferases; Pregnancy; UTP-Hexose-1-Phosphate Uridylyltransferase

1975
[Hereditary abnormalities of galactose metabolism: diagnosis and biochemical supervision (author's transl)].
    Annales de biologie clinique, 1979, Volume: 37, Issue:5

    Topics: Biological Assay; Carbohydrate Epimerases; Carbohydrate Metabolism, Inborn Errors; Chromatography, Paper; Erythrocytes; Escherichia coli; Female; Galactokinase; Galactose; Galactosemias; Heterozygote; Homozygote; Humans; Infant, Newborn; Infant, Newborn, Diseases; Nucleotidyltransferases; Pregnancy; Prenatal Diagnosis; UDPglucose 4-Epimerase; UDPglucose-Hexose-1-Phosphate Uridylyltransferase

1979
Sugar alcohols in the pathogenesis of galactose and diabetic cataracts.
    Birth defects original article series, 1976, Volume: 12, Issue:3

    Topics: Aldehyde Reductase; Animals; Carbohydrate Metabolism, Inborn Errors; Cataract; Chemical Phenomena; Chemistry; Diabetes Complications; Galactose; Galactosemias; Humans; Lens, Crystalline; Sorbitol; Sugar Alcohols

1976
Prenatal diagnosis of disorders of galactose metabolism.
    Journal of inherited metabolic disease, 1989, Volume: 12 Suppl 1

    Topics: Female; Galactokinase; Galactose; Galactosemias; Humans; Pregnancy; Prenatal Diagnosis

1989
Perinatal galactose metabolism.
    The Journal of pediatrics, 1985, Volume: 107, Issue:6

    Topics: Cell Membrane Permeability; Energy Metabolism; Female; Follow-Up Studies; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Genetic Variation; Humans; Infant; Infant, Newborn; Intestinal Absorption; Liver; Pregnancy; Prenatal Diagnosis; Transferases; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

1985
Galactose metabolism and its regulation.
    Metabolism: clinical and experimental, 1973, Volume: 22, Issue:4

    Topics: Animals; Carbon Dioxide; Carbon Isotopes; Chickens; Disease Models, Animal; Erythrocytes; Galactose; Galactosemias; Humans; Isomerases; Liver; NAD; Phosphotransferases; Racial Groups; Uracil Nucleotides

1973
[Galactosemia: a hereditary galactose intolerance].
    Pediatria polska, 1972, Volume: 47, Issue:7

    Topics: Age Factors; Cataract; Deficiency Diseases; Erythrocytes; Galactose; Galactosemias; Galactosidases; Genotype; Humans; Lactose; Nucleotidyltransferases; Phosphotransferases

1972
Recent studies on galactosaemia, phenylketonuria and homocystinuria.
    The Proceedings of the Nutrition Society, 1968, Volume: 27, Issue:1

    Topics: Adult; Brain Chemistry; Child; Female; Galactose; Galactosemias; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylketonurias; Phosphotransferases

1968
Physiological chemistry of the eye.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1969, Volume: 81, Issue:1

    Topics: Amino Acids; Animals; Biological Transport, Active; Cataract; Cell Membrane Permeability; Chemical Phenomena; Chemistry; Chemistry Techniques, Analytical; Cholinesterase Inhibitors; Chondroitin; Collagen; Cornea; Crystallins; Epithelium; Galactose; Galactosemias; Glucose; Humans; Lens, Crystalline; Naphthoquinones; Ocular Physiological Phenomena; Protein Biosynthesis; Rabbits; Sulfhydryl Compounds; Wound Healing

1969
Hereditary galactosemia.
    JAMA, 1969, Jun-16, Volume: 208, Issue:11

    Topics: Diet Therapy; Galactose; Galactosemias; Humans; Intellectual Disability

1969
Galactose toxicity and cellular growth of fetal brain.
    Nutrition reviews, 1970, Volume: 28, Issue:2

    Topics: Animals; Brain; Cell Division; Depression, Chemical; Female; Galactose; Galactosemias; Maternal-Fetal Exchange; Nerve Tissue Proteins; Pregnancy; Rats

1970
Galactose cataract: a review.
    Experimental eye research, 1971, Volume: 11, Issue:3

    Topics: Age Factors; Alcohol Oxidoreductases; Aminoisobutyric Acids; Animals; Cataract; Dairy Products; Galactose; Galactosemias; Glucose; Humans; Inositol; Lens, Crystalline; Milk; Milk, Human; Osmosis; Phospholipids; Rabbits; Rats; Sorbitol; Sugar Alcohols; Xylose

1971
Galactose metabolism of the red cell.
    Experimental eye research, 1971, Volume: 11, Issue:3

    Topics: Carbon Dioxide; Carbon Isotopes; Counseling; Electrophoresis; Erythrocytes; Eugenics; Galactose; Galactosemias; Genotype; Glucose; Heterozygote; Humans; Isomerases; Kinetics; Mass Screening; Methylene Blue; Nucleotidyltransferases; Phosphotransferases

1971

Trials

6 trial(s) available for galactose and Classic Galactosemia

ArticleYear
Verbal dyspraxia and galactosemia.
    Pediatric research, 2003, Volume: 53, Issue:3

    Topics: Adult; Apraxias; Breath Tests; Carbon Dioxide; Carbon Isotopes; Child; Erythrocytes; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Genotype; Humans; Male; Phenotype; Prospective Studies; Reproducibility of Results; Risk Factors; Sensitivity and Specificity

2003
Extended [13C]galactose oxidation studies in patients with galactosemia.
    Molecular genetics and metabolism, 2004, Volume: 82, Issue:2

    Topics: Adolescent; Adult; Breath Tests; Carbon Isotopes; Child; Child, Preschool; Female; Galactose; Galactosemias; Humans; Male; Oxidation-Reduction

2004
Parenteral galactose therapy in the glucose-intolerant premature infant.
    The Journal of pediatrics, 1982, Volume: 100, Issue:2

    Topics: Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Clinical Trials as Topic; Double-Blind Method; Galactose; Galactosemias; Glucose; Glycosuria; Humans; Infant, Newborn; Infant, Premature, Diseases; Infusions, Parenteral; Liver; Random Allocation

1982
Leguminosae in the diet: the raffinose-stachyose question.
    European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2

    Topics: Adult; Child; Fabaceae; Female; Galactose; Galactosemias; Galactosephosphates; Humans; Oligosaccharides; Plants, Medicinal; Raffinose

1995
Carbohydrate-deficient transferrin in galactosaemia.
    Acta paediatrica (Oslo, Norway : 1992), 1997, Volume: 86, Issue:12

    Topics: Biomarkers; Child; Child, Preschool; Congenital Disorders of Glycosylation; Diagnosis, Differential; Female; Galactose; Galactosemias; Humans; Male; Reference Values; Transferrin

1997
Effect of galactose and sugar substitutes on blood insulin levels in normal and obese individuals.
    Journal of medicine, 1976, Volume: 7, Issue:6

    Topics: Adult; Blood Glucose; Clinical Trials as Topic; Galactose; Galactosemias; Humans; Insulin; Male; Middle Aged; Obesity; Sweetening Agents; Taste

1976

Other Studies

702 other study(ies) available for galactose and Classic Galactosemia

ArticleYear
β-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency.
    Journal of inherited metabolic disease, 2022, Volume: 45, Issue:2

    Topics: beta-Galactosidase; Carbohydrate Epimerases; Cataract; Galactitol; Galactose; Galactosemias; Humans; Lactose

2022
AAV-mediated expression of galactose-1-phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts.
    Journal of inherited metabolic disease, 2022, Volume: 45, Issue:3

    Topics: Animals; Fibroblasts; Galactose; Galactosemias; Humans; Mice; Mice, Knockout; UTP-Hexose-1-Phosphate Uridylyltransferase

2022
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia.
    Journal of inherited metabolic disease, 2022, Volume: 45, Issue:2

    Topics: Adult; Animals; Cataract; Galactose; Galactosemias; Humans; Infant, Newborn; Liver; Neonatal Screening; Rats; UTP-Hexose-1-Phosphate Uridylyltransferase

2022
Sphingolipid depletion suppresses UPR activation and promotes galactose hypersensitivity in yeast models of classic galactosemia.
    Biochimica et biophysica acta. Molecular basis of disease, 2022, 06-01, Volume: 1868, Issue:6

    Topics: Galactose; Galactosemias; Humans; Saccharomyces cerevisiae; Sphingolipids; UTP-Hexose-1-Phosphate Uridylyltransferase

2022
A novel galactose electrochemical biosensor intended for point-of-care measurement of quantitative liver function using galactose single-point test.
    Analytical and bioanalytical chemistry, 2022, Volume: 414, Issue:14

    Topics: Biosensing Techniques; Galactose; Galactosemias; Humans; Liver; Point-of-Care Systems

2022
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.
    Journal of inherited metabolic disease, 2022, Volume: 45, Issue:4

    Topics: Animals; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Liposomes; Nanoparticles; Nucleotidyltransferases; RNA, Messenger; UTP-Hexose-1-Phosphate Uridylyltransferase; Zebrafish

2022
Harnessing the Power of Purple Sweet Potato Color and
    International journal of molecular sciences, 2022, Aug-04, Volume: 23, Issue:15

    Topics: Animals; Color; Female; Galactose; Galactosemias; Inositol; Ipomoea batatas; Mice; UTP-Hexose-1-Phosphate Uridylyltransferase

2022
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
    Journal of inherited metabolic disease, 2022, Volume: 45, Issue:6

    Topics: Adenosine Diphosphate; Adenosine Triphosphate; Biomarkers; Galactose; Galactosemias; Humans; Metabolic Networks and Pathways; Phosphates; UTP-Hexose-1-Phosphate Uridylyltransferase

2022
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
    Journal of inherited metabolic disease, 2022, Volume: 45, Issue:6

    Topics: Alleles; Female; Galactose; Galactosemias; Homozygote; Humans; Infant, Newborn; UTP-Hexose-1-Phosphate Uridylyltransferase

2022
Early postnatal alterations in follicular stress response and survival in a mouse model of Classic Galactosemia.
    Journal of ovarian research, 2022, Nov-21, Volume: 15, Issue:1

    Topics: Animals; Disease Models, Animal; Female; Galactose; Galactosemias; Humans; Mice; Primary Ovarian Insufficiency; UTP-Hexose-1-Phosphate Uridylyltransferase

2022
Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment.
    Nutrients, 2023, Jan-13, Volume: 15, Issue:2

    Topics: Animals; Diet; Eating; Galactose; Galactosemias; Iodine; Malnutrition; Milk

2023
Caregivers' nutrition-related knowledge, perceptions, practices and barriers regarding the therapeutic diet for classical galactosaemia.
    Journal of human nutrition and dietetics : the official journal of the British Dietetic Association, 2023, Volume: 36, Issue:4

    Topics: Caregivers; Child; Diet, Carbohydrate-Restricted; Female; Galactose; Galactosemias; Humans; Surveys and Questionnaires

2023
Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia.
    Nutrients, 2023, Jan-23, Volume: 15, Issue:3

    Topics: Adult; Cheese; Child; Diet; Food Handling; Galactose; Galactosemias; Humans; Lactose

2023
    Platelets, 2023, Volume: 34, Issue:1

    Topics: Galactose; Galactosemias; Hemorrhage; Humans; Thrombocytopenia; UDPglucose 4-Epimerase

2023
Understanding the patient experience of Classic Galactosemia in pediatric and adult patients: increased disease burden, challenges with daily living, and how they evolve over time.
    Journal of patient-reported outcomes, 2023, 09-26, Volume: 7, Issue:1

    Topics: Adult; Child; Cost of Illness; Galactose; Galactosemias; Humans; Infant, Newborn; Patient Outcome Assessment; Quality of Life; Rare Diseases

2023
Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.
    Journal of inherited metabolic disease, 2023, Volume: 46, Issue:6

    Topics: Animals; Female; Galactose; Galactosemias; Hand Strength; Humans; Male; Rats; UTP-Hexose-1-Phosphate Uridylyltransferase

2023
Long-term complications in classic galactosemia are not progressive.
    Molecular genetics and metabolism, 2023, Volume: 140, Issue:3

    Topics: Child; Cross-Sectional Studies; Galactose; Galactosemias; Humans

2023
Dehydroepiandrosterone supplementation attenuates ovarian ageing in a galactose-induced primary ovarian insufficiency rat model.
    Journal of assisted reproduction and genetics, 2019, Volume: 36, Issue:10

    Topics: Aging; Animals; Dehydroepiandrosterone; Dietary Supplements; Disease Models, Animal; Female; Galactose; Galactosemias; Humans; Ovarian Follicle; Pregnancy; Primary Ovarian Insufficiency; Rats

2019
Galactosemia.
    Pediatrics in review, 2019, Volume: 40, Issue:Suppl 1

    Topics: Bone Density; Bone Diseases, Metabolic; Developmental Disabilities; Female; Galactose; Galactosemias; Growth Disorders; Humans; Infant, Newborn; Neonatal Screening; Primary Ovarian Insufficiency

2019
Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.
    Molecular therapy : the journal of the American Society of Gene Therapy, 2020, 01-08, Volume: 28, Issue:1

    Topics: Animals; Animals, Newborn; Cells, Cultured; Disease Models, Animal; Erythrocytes; Female; Fibroblasts; Galactose; Galactosemias; Galactosephosphates; Humans; Injections, Intraperitoneal; Injections, Intravenous; Liver; Male; Mice; Mice, Knockout; RNA, Messenger; Signal Transduction; Transfection; Treatment Outcome; UTP-Hexose-1-Phosphate Uridylyltransferase

2020
Galactose 1-phosphate accumulates to high levels in galactose-treated cells due to low GALT activity and absence of product inhibition of GALK.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:3

    Topics: Galactose; Galactosemias; Galactosephosphates; HEK293 Cells; Humans; UTP-Hexose-1-Phosphate Uridylyltransferase

2020
A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:3

    Topics: Animals; Animals, Newborn; Disease Models, Animal; Female; Galactose; Galactosemias; Galactosephosphates; Male; Phenotype; Rats; Rats, Sprague-Dawley; UTP-Hexose-1-Phosphate Uridylyltransferase

2020
Fluorinated Galactoses Inhibit Galactose-1-Phosphate Uridyltransferase and Metabolically Induce Galactosemia-like Phenotypes in HEK-293 Cells.
    Cells, 2020, 03-03, Volume: 9, Issue:3

    Topics: Galactose; Galactosemias; Glycosylation; HEK293 Cells; Humans; Phenotype; UTP-Hexose-1-Phosphate Uridylyltransferase

2020
Therapies for galactosemia: a patent landscape.
    Pharmaceutical patent analyst, 2020, Volume: 9, Issue:2

    Topics: Aldehyde Reductase; Animals; Cinnamates; Enzyme Inhibitors; Galactose; Galactosemias; Humans; Patents as Topic; RNA, Messenger; Thiourea

2020
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:5

    Topics: Animals; Female; Galactose; Galactosemias; Kinetics; Male; Tandem Mass Spectrometry; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; UTP-Hexose-1-Phosphate Uridylyltransferase; Zebrafish

2020
Clinical Significance of Serum Galactose-Deficient IgA1 Level in Children with IgA Nephropathy.
    Journal of immunology research, 2020, Volume: 2020

    Topics: Adolescent; Age Factors; Biomarkers; Child; Child, Preschool; Diagnosis, Differential; Enzyme-Linked Immunosorbent Assay; Female; Galactose; Galactosemias; Glomerulonephritis, IGA; Humans; Immunoglobulin A; Male; Predictive Value of Tests; Prognosis; Reference Standards

2020
A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT-null rat pups.
    Journal of inherited metabolic disease, 2021, Volume: 44, Issue:1

    Topics: Animals; Animals, Newborn; Brain; Cataract; Dependovirus; Disease Models, Animal; Galactose; Galactosemias; Genetic Therapy; Liver; Pilot Projects; Rats; UTP-Hexose-1-Phosphate Uridylyltransferase

2021
Hand fine motor control in classic galactosemia.
    Journal of inherited metabolic disease, 2021, Volume: 44, Issue:4

    Topics: Adolescent; Adult; Animals; Case-Control Studies; Child; Female; Galactose; Galactosemias; Galactosephosphates; Humans; Male; UTP-Hexose-1-Phosphate Uridylyltransferase; Young Adult

2021
Cataract and early nystagmus due to galactokinase deficiency.
    Journal of inherited metabolic disease, 2017, Volume: 40, Issue:5

    Topics: Cataract; Diagnostic Techniques, Ophthalmological; Galactose; Galactosemias; Humans; Infant; Male; Mutation; Nystagmus, Pathologic

2017
Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia.
    Journal of inherited metabolic disease, 2017, Volume: 40, Issue:6

    Topics: Adolescent; Adult; Child; Child, Preschool; Diet; Female; Galactose; Galactosemias; Humans; Male; Retrospective Studies; Surveys and Questionnaires; Young Adult

2017
Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.
    Journal of pediatric endocrinology & metabolism : JPEM, 2017, Oct-26, Volume: 30, Issue:10

    Topics: Galactokinase; Galactose; Galactosemias; Humans; Infant, Newborn; Mutation; Neonatal Screening; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

2017
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
    Genetics in medicine : official journal of the American College of Medical Genetics, 2018, Volume: 20, Issue:1

    Topics: Clinical Laboratory Techniques; Galactose; Galactosemias; Genetic Testing; Humans; Metabolic Networks and Pathways; Molecular Diagnostic Techniques; Mutation; Prenatal Diagnosis; Reproducibility of Results

2018
Antioxidant effects on the intracerebroventricular galactose damage in rats.
    Pathology, research and practice, 2018, Volume: 214, Issue:10

    Topics: alpha-Tocopherol; Animals; Antioxidants; Ascorbic Acid; Brain; Galactose; Galactosemias; Infusions, Intraventricular; Male; Oxidation-Reduction; Oxidative Stress; Rats; Rats, Wistar

2018
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions.
    Orphanet journal of rare diseases, 2018, 09-19, Volume: 13, Issue:1

    Topics: Adolescent; Adult; Female; Fucosyltransferases; Galactose; Galactosemias; Humans; Infertility; Intercellular Adhesion Molecule-1; Leptin; Middle Aged; N-Acetylglucosaminyltransferases; Primary Ovarian Insufficiency; Receptors, Leptin; Septins; Young Adult

2018
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
    Human molecular genetics, 2019, 01-01, Volume: 28, Issue:1

    Topics: Adult; Alleles; Exome Sequencing; Female; Galactose; Galactosemias; Gene Frequency; Humans; Male; Middle Aged; Pedigree; Thrombocytopenia; UDPglucose 4-Epimerase

2019
A patient with classical galactosemia is graduated with a university degree.
    Journal of pediatric endocrinology & metabolism : JPEM, 2018, Oct-25, Volume: 31, Issue:10

    Topics: Adult; Education, Graduate; Galactose; Galactosemias; Humans; Infant, Newborn; Male; Neonatal Screening; Prognosis; Psychomotor Performance; Universities

2018
Biallelic GALM pathogenic variants cause a novel type of galactosemia.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2019, Volume: 21, Issue:6

    Topics: Alleles; Base Sequence; Carbohydrate Epimerases; Child, Preschool; Female; Galactose; Galactosemias; Genetic Variation; Humans; Infant; Male

2019
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
    Orphanet journal of rare diseases, 2018, 11-26, Volume: 13, Issue:1

    Topics: Arginine; Aspartic Acid; Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Humans; Metabolism, Inborn Errors; Mutation; Retrospective Studies

2018
Developmental Outcomes in Duarte Galactosemia.
    Pediatrics, 2019, Volume: 143, Issue:1

    Topics: Child; Child Development; Developmental Disabilities; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Male; Prevalence; Retrospective Studies; United States

2019
Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:2

    Topics: Adolescent; Adult; Case-Control Studies; Child; Child, Preschool; Chromatography, Liquid; Female; Galactose; Galactosemias; Humans; Linear Models; Male; Metabolomics; Young Adult

2019
The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.
    Molecular genetics and metabolism, 2019, Volume: 126, Issue:4

    Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Enzyme Assays; Erythrocytes; Female; Galactose; Galactosemias; Humans; Infant; Male; Middle Aged; Phenotype; Retrospective Studies; Sensitivity and Specificity; Tandem Mass Spectrometry; UTP-Hexose-1-Phosphate Uridylyltransferase; Young Adult

2019
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.
    Molecular genetics and metabolism, 2019, Volume: 126, Issue:4

    Topics: Africa; Databases, Genetic; Enzyme Assays; Galactose; Galactosemias; Humans; Japan; Mutation; Prevalence; Protein Isoforms

2019
Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure.
    Medicina (Kaunas, Lithuania), 2019, Apr-04, Volume: 55, Issue:4

    Topics: Child, Preschool; Developed Countries; Female; Follow-Up Studies; Galactitol; Galactose; Galactosemias; Humans; Infant, Newborn; Lactose Tolerance Test; Liver Failure, Acute; Magnetic Resonance Spectroscopy; Meningitis, Bacterial; Mutation; Neonatal Screening; Romania; Streptococcal Infections; Streptococcus; UTP-Hexose-1-Phosphate Uridylyltransferase

2019
Protective effect of caffeine against high sugar-induced transcription of microRNAs and consequent gene silencing: a study using lenses of galactosemic mice.
    Molecular vision, 2013, Volume: 19

    Topics: Animals; Caffeine; Cataract; Disease Models, Animal; Galactose; Galactosemias; Gene Silencing; Humans; Lens, Crystalline; Mice; Mice, Inbred Strains; MicroRNAs; Oxidative Stress; Transcription, Genetic

2013
Static and dynamic interactions between GALK enzyme and known inhibitors: guidelines to design new drugs for galactosemic patients.
    European journal of medicinal chemistry, 2013, Volume: 63

    Topics: Binding Sites; Binding, Competitive; Crystallography, X-Ray; Drug Design; Drug Evaluation, Preclinical; Enzyme Inhibitors; Galactokinase; Galactose; Galactosemias; Humans; Models, Molecular; Molecular Conformation; Molecular Dynamics Simulation; Protein Binding; Protein Structure, Tertiary; Static Electricity; Substrate Specificity; Thermodynamics

2013
A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.
    Journal of inherited metabolic disease, 2014, Volume: 37, Issue:1

    Topics: Adolescent; Adult; Alleles; DNA Mutational Analysis; Female; Galactose; Galactosemias; Galactosephosphates; Gene Frequency; Genetic Association Studies; Homozygote; Humans; Male; Mutation, Missense; Phenotype; Portugal; RNA Splicing; UTP-Hexose-1-Phosphate Uridylyltransferase; Young Adult

2014
Manganese-based superoxide dismutase mimics modify both acute and long-term outcome severity in a Drosophila melanogaster model of classic galactosemia.
    Antioxidants & redox signaling, 2014, May-20, Volume: 20, Issue:15

    Topics: Animals; Cysteine; Disease Models, Animal; Drosophila melanogaster; Galactose; Galactosemias; Glutathione; Male; Metabolic Networks and Pathways; Metalloporphyrins; Molecular Mimicry; Oxidation-Reduction; Reactive Oxygen Species; Superoxide Dismutase

2014
Impaired NADPH oxidase activity in peripheral blood lymphocytes of galactosemia patients.
    Experimental biology and medicine (Maywood, N.J.), 2013, Volume: 238, Issue:7

    Topics: Antioxidants; Blotting, Western; Case-Control Studies; Cell Separation; Cells, Cultured; Child, Preschool; Galactose; Galactosemias; Galactosephosphates; Glucosephosphate Dehydrogenase; Humans; Infant; Lipid Peroxidation; Lymphocytes; Malondialdehyde; NADPH Oxidase 1; NADPH Oxidases; Nitrites; Phosphoproteins

2013
The unfolded protein response has a protective role in yeast models of classic galactosemia.
    Disease models & mechanisms, 2014, Volume: 7, Issue:1

    Topics: Alternative Splicing; Basic-Leucine Zipper Transcription Factors; Endoplasmic Reticulum; Fungal Proteins; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Gene Expression Regulation, Fungal; Glycoproteins; HSP70 Heat-Shock Proteins; Humans; Mutation; Oxidoreductases Acting on Sulfur Group Donors; Protein Folding; Repressor Proteins; RNA, Messenger; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Unfolded Protein Response

2014
Cell-based galactosemia diagnosis system based on a galactose assay using a bioluminescent Escherichia coli array.
    Analytical chemistry, 2013, Nov-19, Volume: 85, Issue:22

    Topics: Biomarkers; Escherichia coli; Galactose; Galactosemias; Glucose; Humans; Infant; Luminescent Measurements

2013
Galactose content of legumes, caseinates, and some hard cheeses: implications for diet treatment of classic galactosemia.
    Journal of agricultural and food chemistry, 2014, Feb-12, Volume: 62, Issue:6

    Topics: Caseins; Cheese; Diet; Fabaceae; Galactose; Galactosemias; Humans; UTP-Hexose-1-Phosphate Uridylyltransferase

2014
Usefulness of Benedict's test for the screening of galactosemia.
    Clinical biochemistry, 2014, Volume: 47, Issue:9

    Topics: Carbonates; Citrates; Copper; Cyanates; False Positive Reactions; Galactose; Galactosemias; Humans; Indicators and Reagents; Infant, Newborn; Retrospective Studies

2014
[Galactosemia].
    Pan American medical woman's journal, 1952, Volume: 59, Issue:7

    Topics: Child; Galactose; Galactosemias; Humans; Infant; Liver Cirrhosis; Malnutrition

1952
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.
    European journal of human genetics : EJHG, 2014, Volume: 22, Issue:10

    Topics: Alleles; Animals; Brain; Disease Models, Animal; Female; Galactose; Galactosemias; Genotyping Techniques; Glutathione; Heterozygote; Homozygote; Infertility; Lactation; Male; Mice; Mice, Knockout; UTP-Hexose-1-Phosphate Uridylyltransferase

2014
A brief overview of galactosemia newborn screening in the United States.
    Journal of inherited metabolic disease, 2014, Volume: 37, Issue:4

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Neonatal Screening; United States

2014
The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding.
    Archives of biochemistry and biophysics, 2014, Nov-15, Volume: 562

    Topics: Bacillus; Calorimetry; Crystallography, X-Ray; DNA Mutational Analysis; Escherichia coli; Galactose; Galactosemias; Genetic Variation; Humans; Ligands; Mutation; Protein Binding; Protein Structure, Tertiary; Proteolysis; Spectrophotometry; Substrate Specificity; Temperature; Thermolysin; UDPglucose 4-Epimerase; Uridine Diphosphate Glucose

2014
Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
    Archives of physiology and biochemistry, 2014, Volume: 120, Issue:5

    Topics: Adolescent; Adult; Child; Child, Preschool; Erythrocytes; Female; Galactose; Galactosemias; Humans; Male; UTP-Hexose-1-Phosphate Uridylyltransferase; Young Adult

2014
Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model.
    Disease models & mechanisms, 2014, Volume: 7, Issue:12

    Topics: Animals; Animals, Genetically Modified; Behavior, Animal; Disease Models, Animal; Drosophila; Galactose; Galactosemias; Genotype; Glycosylation; Humans; Mutation; Neuromuscular Junction; RNA Interference; Signal Transduction; Synapses

2014
Galactose oxidation using (13)C in healthy and galactosemic children.
    Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas, 2015, Volume: 48, Issue:3

    Topics: Breath Tests; Case-Control Studies; Child; Child, Preschool; Female; Galactose; Galactosemias; Humans; Infant; Male; Mass Spectrometry; Oxidation-Reduction; ROC Curve; UTP-Hexose-1-Phosphate Uridylyltransferase

2015
Negative Urine Benedict's Test in a Child with Galactosemia: A Diagnostic Challenge.
    Indian journal of pediatrics, 2015, Volume: 82, Issue:8

    Topics: Carbonates; Citrates; Copper; Cyanates; False Negative Reactions; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Liver Failure

2015
How strict is galactose restriction in adults with galactosaemia? International practice.
    Molecular genetics and metabolism, 2015, Volume: 115, Issue:1

    Topics: Adult; Diet; Food; Fruit; Galactose; Galactosemias; Humans; Lactose; Surveys and Questionnaires; Vegetables

2015
Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study.
    Pediatric research, 2015, Volume: 78, Issue:3

    Topics: Bone and Bones; Child; Child, Preschool; Cohort Studies; Dietary Supplements; Endocrine System; Female; Galactose; Galactosemias; Glycosylation; HEK293 Cells; Homozygote; Humans; Immunoglobulin G; Kidney; Lactose; Leptin; Liver; Male; Mutation; Pilot Projects; Receptors, Leptin; Signal Transduction

2015
The Rapid and Sensitive Quantitative Determination of Galactose by Combined Enzymatic and Colorimetric Method: Application in Neonatal Screening.
    Applied biochemistry and biotechnology, 2016, Volume: 179, Issue:2

    Topics: Biosensing Techniques; Colorimetry; Enzymes, Immobilized; Galactose; Galactose Dehydrogenases; Galactosemias; Humans; Infant, Newborn; Neonatal Screening

2016
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
    Human molecular genetics, 2016, 06-01, Volume: 25, Issue:11

    Topics: Binding Sites; Catalytic Domain; Crystallography, X-Ray; Galactose; Galactosemias; Humans; Kinetics; Models, Molecular; Mutagenesis, Site-Directed; Mutation; Protein Conformation; Structure-Activity Relationship; Ternary Complex Factors; UTP-Hexose-1-Phosphate Uridylyltransferase

2016
Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.
    Disease models & mechanisms, 2016, 11-01, Volume: 9, Issue:11

    Topics: Animals; Disease Models, Animal; Drosophila melanogaster; Female; Fertility; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Larva; Male; Metabolic Networks and Pathways; Phenotype

2016
Microchip in situ electrosynthesis of silver metallic oxide clusters for ultra-FAST detection of galactose in galactosemic newborns' urine samples.
    The Analyst, 2016, Oct-17, Volume: 141, Issue:21

    Topics: Electrochemical Techniques; Electrodes; Galactose; Galactosemias; Humans; Infant, Newborn; Microfluidic Analytical Techniques; Microscopy, Atomic Force; Oxides; Photoelectron Spectroscopy; Silver Compounds; Spectrometry, X-Ray Emission

2016
Incidence of galactose metabolic disorders in Greece.
    Minerva pediatrica, 2016, Volume: 68, Issue:6

    Topics: Galactose; Galactosemias; Greece; Humans; Incidence; Infant, Newborn; Metabolic Diseases

2016
Insight into the mechanism of galactokinase: Role of a critical glutamate residue and helix/coil transitions.
    Biochimica et biophysica acta. Proteins and proteomics, 2017, Volume: 1865, Issue:3

    Topics: Adenosine Triphosphate; Aspartic Acid; Catalysis; Catalytic Domain; Galactokinase; Galactose; Galactosemias; Glutamic Acid; Humans; Methionine; Molecular Dynamics Simulation; Protein Conformation; Substrate Specificity

2017
Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.
    Molecular genetics and metabolism, 2017, Volume: 120, Issue:3

    Topics: False Positive Reactions; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Male; Neonatal Screening; Netherlands; Phenotype; Retrospective Studies; Sensitivity and Specificity; UTP-Hexose-1-Phosphate Uridylyltransferase

2017
Classical Galactosemia: Insight into Molecular Pathomechanisms by Differential Membrane Proteomics of Fibroblasts under Galactose Stress.
    Journal of proteome research, 2017, 02-03, Volume: 16, Issue:2

    Topics: Antigens, CD; Cadherins; Calreticulin; Case-Control Studies; Child, Preschool; Endoplasmic Reticulum Chaperone BiP; Female; Fibroblasts; Galactose; Galactosemias; Gene Expression Profiling; Gene Expression Regulation; Gene Ontology; Glypicans; GPI-Linked Proteins; Heat-Shock Proteins; Humans; Infant; Male; Membrane Microdomains; Membrane Proteins; Molecular Sequence Annotation; Neoplasm Proteins; Nerve Tissue Proteins; Primary Cell Culture; Semaphorins; Signal Transduction; Stress, Physiological; UTP-Hexose-1-Phosphate Uridylyltransferase

2017
The galactose-induced decrease in phosphate levels leads to toxicity in yeast models of galactosemia.
    Biochimica et biophysica acta. Molecular basis of disease, 2017, Volume: 1863, Issue:6

    Topics: Galactokinase; Galactose; Galactosemias; Glycogen; Humans; Models, Biological; Phosphates; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins

2017
Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature.
    European journal of pediatrics, 2009, Volume: 168, Issue:6

    Topics: Adult; Breast Feeding; Cesarean Section; Erythrocytes; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Lactation; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Young Adult

2009
Galactosemia.
    The Journal of pediatrics, 1948, Volume: 33, Issue:2

    Topics: Blood; Galactose; Galactosemias; Humans

1948
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.
    Molecular genetics and metabolism, 2008, Volume: 95, Issue:4

    Topics: Child; Child Development; Child, Preschool; Female; Galactitol; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Neonatal Screening; Pilot Projects

2008
Galactosemia screening by simultaneous blood spot quantification of galactose and galactose 1-phosphate.
    Clinical chemistry, 2008, Volume: 54, Issue:12

    Topics: Adult; Anion Exchange Resins; Blood Specimen Collection; Chromatography, Ion Exchange; Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn

2008
Outcomes of siblings with classical galactosemia.
    The Journal of pediatrics, 2009, Volume: 154, Issue:5

    Topics: Adolescent; Adult; Birth Order; Brain; Child; Child, Preschool; Diet Records; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Intelligence Tests; Ireland; Lactose; Language Disorders; Magnetic Resonance Spectroscopy; Male; Neurologic Examination; Patient Compliance; Retrospective Studies; Siblings; Young Adult

2009
Galactosaemia in a Brazilian population: high incidence and cost-benefit analysis.
    Journal of inherited metabolic disease, 2009, Volume: 32 Suppl 1

    Topics: Blood Chemical Analysis; Brazil; Colorimetry; Cost-Benefit Analysis; DNA Mutational Analysis; Female; Galactose; Galactosemias; Humans; Incidence; Infant, Newborn; Male; Neonatal Screening; UDPglucose-Hexose-1-Phosphate Uridylyltransferase

2009
Determination of the lactose and galactose content of cheese for use in the galactosaemia diet.
    Journal of human nutrition and dietetics : the official journal of the British Dietetic Association, 2009, Volume: 22, Issue:5

    Topics: Cheese; Diet; Galactose; Galactosemias; Humans; Lactose; United Kingdom

2009
TNF-alpha mediated apoptosis plays an important role in the development of early diabetic retinopathy and long-term histopathological alterations.
    Molecular vision, 2009, Jul-25, Volume: 15

    Topics: Animals; Apoptosis; Capillaries; Caspase 3; Caspase Inhibitors; Diabetic Retinopathy; DNA Fragmentation; Endothelial Cells; Enzyme Activation; Etanercept; Feeding Behavior; Galactose; Galactosemias; Immunoglobulin G; In Situ Nick-End Labeling; Male; Mice; Rats; Rats, Long-Evans; Receptors, Tumor Necrosis Factor; Receptors, Tumor Necrosis Factor, Type I; Receptors, Tumor Necrosis Factor, Type II; Retina; Time Factors; Tumor Necrosis Factor-alpha

2009
Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach.
    Clinical chemistry, 2010, Volume: 56, Issue:3

    Topics: DNA; Galactose; Galactosemias; Humans; Infant, Newborn; Mutation; Neonatal Screening; UTP-Hexose-1-Phosphate Uridylyltransferase

2010
Multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry.
    Clinical chemistry, 2010, Volume: 56, Issue:5

    Topics: Chromatography, High Pressure Liquid; Enzyme Assays; Erythrocytes; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Humans; Linear Models; Reproducibility of Results; Tandem Mass Spectrometry; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

2010
Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper-borne urine and blood samples in newborn screening.
    Journal of clinical laboratory analysis, 2010, Volume: 24, Issue:2

    Topics: Carbohydrates; Chromatography, Thin Layer; Diabetes Mellitus; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Neonatal Screening; Paper

2010
Duarte galactosemia: how sweet is it?
    Clinical chemistry, 2010, Volume: 56, Issue:7

    Topics: Child; Child, Preschool; Dietary Carbohydrates; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Sugar Acids

2010
Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate.
    Clinical chemistry, 2010, Volume: 56, Issue:7

    Topics: Child; Child, Preschool; Dietary Carbohydrates; Erythrocytes; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Male; Monitoring, Physiologic; Reference Values; Sugar Acids

2010
Classic galactosemia: dietary dilemmas.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:2

    Topics: Adult; Animals; Cattle; Child, Preschool; Female; Galactose; Galactosemias; Humans; Infant; Infant Formula; Infant, Newborn; Male; Milk; UTP-Hexose-1-Phosphate Uridylyltransferase

2011
GALACTOSEMIA associated with cataracts in an infant.
    Nutrition reviews, 1946, Volume: 4, Issue:7

    Topics: Blood; Cataract; Child; Galactose; Galactosemias; Humans; Infant

1946
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:2

    Topics: Bosnia and Herzegovina; Emigration and Immigration; Female; Galactitol; Galactose; Galactosemias; Germany; Homozygote; Humans; Incidence; Infant, Newborn; Male; Mutation; Neonatal Screening; Serbia; Treatment Outcome

2011
Long-term complications in Estonian galactosemia patients with a less strict lactose-free diet and metabolic control.
    Molecular genetics and metabolism, 2011, Volume: 103, Issue:3

    Topics: Adolescent; Child; Diet; Estonia; Female; Galactitol; Galactose; Galactosemias; Genotype; Humans; Lactose; Male; Phenotype; Retrospective Studies

2011
Methionine/galactose ratio on newborn blood spots useful for reduction of false positives for homocystinuria and galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection.
    Clinica chimica acta; international journal of clinical chemistry, 2012, Jan-18, Volume: 413, Issue:1-2

    Topics: Anion Exchange Resins; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Electrochemistry; False Positive Reactions; Galactose; Galactosemias; Homocystinuria; Humans; Infant, Newborn; Methionine; Neonatal Screening; Reproducibility of Results

2012
The lactose content of Mini Babybel and suitability for galactosaemia.
    Journal of human nutrition and dietetics : the official journal of the British Dietetic Association, 2011, Volume: 24, Issue:6

    Topics: Cheese; Galactose; Galactosemias; Humans; Lactose

2011
IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia.
    Molecular genetics and metabolism, 2012, Volume: 105, Issue:2

    Topics: Adult; Biomarkers, Pharmacological; Diet; Drug Tolerance; Female; Galactose; Galactosemias; Glycosylation; Humans; Immunoglobulin G; Male; Polysaccharides

2012
Colorimetric quantification of galactose using a nanostructured multi-catalyst system entrapping galactose oxidase and magnetic nanoparticles as peroxidase mimetics.
    The Analyst, 2012, Mar-07, Volume: 137, Issue:5

    Topics: Biomimetic Materials; Catalysis; Colorimetry; Dried Blood Spot Testing; Enzymes, Immobilized; Galactose; Galactose Oxidase; Galactosemias; Humans; Linear Models; Magnets; Nanoparticles; Peroxidase; Porosity; Silicon Dioxide

2012
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6

    Topics: Adolescent; Adult; Child; Cognition Disorders; Dietary Carbohydrates; Female; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Internationality; Male; Neonatal Screening; Ovarian Diseases; Surveys and Questionnaires; Treatment Outcome

2012
Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
    Biochimica et biophysica acta, 2012, Volume: 1822, Issue:10

    Topics: Alleles; Coenzymes; Escherichia coli; Fungal Proteins; Galactose; Galactosemias; Humans; Kinetics; Models, Molecular; NAD; Peptide Hydrolases; Protein Binding; Protein Denaturation; Protein Multimerization; Protein Structure, Secondary; Recombinant Proteins; Structure-Activity Relationship; UDPglucose 4-Epimerase; Uridine Diphosphate N-Acetylglucosamine; Yeasts

2012
Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia.
    Disease models & mechanisms, 2012, Volume: 5, Issue:6

    Topics: Aging; Animals; Brain; Diet; Disease Models, Animal; Drosophila melanogaster; Drosophila Proteins; Dyskinesias; Galactose; Galactosemias; Galactosephosphates; Galactosyltransferases; Humans; Motor Activity; Movement; Muscles; Reflex, Startle; Time Factors

2012
N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.
    Molecular genetics and metabolism, 2012, Volume: 106, Issue:4

    Topics: Adult; Child; Child, Preschool; Diet; Female; Galactose; Galactosemias; Glycoproteins; Glycosylation; Humans; Infant; Infant, Newborn; Male; Polysaccharides; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Treatment Outcome; UTP-Hexose-1-Phosphate Uridylyltransferase

2012
Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia.
    Disease models & mechanisms, 2013, Volume: 6, Issue:1

    Topics: Animals; Antioxidants; Ascorbic Acid; Cysteine; Dimethyl Sulfoxide; Disease Models, Animal; Drosophila melanogaster; Drosophila Proteins; Galactose; Galactosemias; Galactosephosphates; Gene Expression; Gene Knockout Techniques; Genes, Insect; Glutathione; Glutathione Transferase; Humans; Mutation; Oxidative Stress; Paraquat; Reactive Oxygen Species; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Xanthones

2013
Termination of experimental galactosemia in rats, and progression of retinal metabolic abnormalities.
    Investigative ophthalmology & visual science, 2002, Volume: 43, Issue:10

    Topics: Animals; Disease Progression; Drug Administration Schedule; Galactose; Galactosemias; Glutathione; Hexoses; Lipid Peroxides; Male; Metabolic Diseases; Nitric Oxide Synthase; Nitric Oxide Synthase Type II; Oxidative Stress; Protein Kinase C; Rats; Rats, Sprague-Dawley; Retina; Retinal Diseases; Tyrosine

2002
Monitoring neonatal hypoglycemia with the Accu-chek advantage II glucose meter: the cautionary tale of galactosemia.
    Clinical chemistry, 2002, Volume: 48, Issue:11

    Topics: Blood Chemical Analysis; Blood Glucose; Diagnosis, Differential; Galactose; Galactosemias; Humans; Hypoglycemia; Infant, Newborn; Point-of-Care Systems; Twins

2002
Metabolism of 13C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy.
    Molecular genetics and metabolism, 2002, Volume: 77, Issue:4

    Topics: Carbon Isotopes; Galactose; Galactosemias; Humans; Lymphocytes; Magnetic Resonance Spectroscopy; Ribose; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose

2002
Prenatal exposure to high galactose adversely affects initial gonadal pool of germ cells in rats.
    Human reproduction (Oxford, England), 2003, Volume: 18, Issue:2

    Topics: Animals; Cell Count; Cell Movement; Dose-Response Relationship, Drug; Female; Galactose; Galactosemias; Germ Cells; Gonads; Liver; Male; Pregnancy; Prenatal Exposure Delayed Effects; Primary Ovarian Insufficiency; Rats; UDPglucose 4-Epimerase

2003
Galactose content of baby food meats: considerations for infants with galactosemia.
    Journal of the American Dietetic Association, 2003, Volume: 103, Issue:3

    Topics: Animals; Biological Availability; Cattle; Chickens; Chromatography, High Pressure Liquid; Food Analysis; Galactose; Galactosemias; Humans; Infant; Infant Food; Meat Products; Sheep; Swine; Turkeys

2003
Inhibitor of apoptosis proteins and ovarian dysfunction in galactosemic rats.
    Cell and tissue research, 2003, Volume: 311, Issue:3

    Topics: Animals; Apoptosis; Baculoviral IAP Repeat-Containing 3 Protein; Cell Survival; Chorionic Gonadotropin; Disease Models, Animal; Fas Ligand Protein; fas Receptor; Female; Food, Formulated; Galactose; Galactosemias; Gonadotropins, Equine; Granulosa Cells; Inhibitor of Apoptosis Proteins; Membrane Glycoproteins; Ovarian Diseases; Proteins; Rats; Rats, Sprague-Dawley

2003
A woman with untreated galactosaemia.
    Lancet (London, England), 2003, Aug-09, Volume: 362, Issue:9382

    Topics: Adult; Female; Food, Formulated; Galactose; Galactosemias; Humans; Intellectual Disability

2003
Galactosemia; a case report with a review of the literature.
    Clinical proceedings - Children's Hospital of the District of Columbia, 1952, Volume: 8, Issue:10

    Topics: Child; Galactose; Galactosemias; Humans; Pediatrics

1952
Galactosemia; report of case with autopsy.
    Pediatrics, 1952, Volume: 10, Issue:1

    Topics: Autopsy; Child; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Pediatrics

1952
[Galactosemia; general considerations and review of a case].
    Archives francaises de pediatrie, 1953, Volume: 10, Issue:1

    Topics: Child; Galactose; Galactosemias; Humans; Pediatrics

1953
Cataracts in galactosemia; observations in three cases.
    American journal of ophthalmology, 1953, Volume: 36, Issue:4

    Topics: Cataract; Galactose; Galactosemias; Humans

1953
Galactosemia; an unusual cause of neonatal jaundice.
    A.M.A. American journal of diseases of children, 1953, Volume: 85, Issue:5

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Jaundice; Jaundice, Neonatal

1953
Galactosemia.
    The Canadian nurse, 1953, Volume: 49, Issue:3

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Metabolic Diseases

1953
Galactosemia and galactosuria.
    American journal of ophthalmology, 1953, Volume: 36, Issue:6 1

    Topics: Blood; Body Fluids; Galactose; Galactosemias; Humans; Urine

1953
[Amino-aciduria in galactosemia].
    Archives francaises de pediatrie, 1953, Volume: 10, Issue:2

    Topics: Amino Acids; Antifibrinolytic Agents; Body Fluids; Chromatography; Galactose; Galactosemias; Humans

1953
Galactosemia.
    Virginia medical monthly, 1953, Volume: 80, Issue:6

    Topics: Child; Galactose; Galactosemias; Metabolic Diseases; Pediatrics

1953
Cataracts in galactosemia.
    American journal of ophthalmology, 1953, Volume: 36, Issue:10

    Topics: Cataract; Child; Galactose; Galactosemias; Humans; Infant

1953
Cataracts in galactosaemia.
    The British journal of ophthalmology, 1953, Volume: 37, Issue:11

    Topics: Cataract; Child; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases

1953
Diagnosis and treatment of galactosaemia.
    British medical journal, 1954, Jan-30, Volume: 1, Issue:4856

    Topics: Galactose; Galactosemias; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases

1954
Galactosaemia.
    Medicine illustrated, 1954, Volume: 8, Issue:1

    Topics: Blood; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1954
Case of galactosemia identified in a four day old infant by paper chromatographic technic.
    Pediatrics, 1954, Volume: 13, Issue:3

    Topics: Chromatography; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Metabolic Diseases

1954
Hyperamino-aciduria in Lignac-Fanconi disease, in galactosaemia and in an obscure syndrome.
    Archives of disease in childhood, 1954, Volume: 29, Issue:145

    Topics: Amino Acids; Galactose; Galactosemias; Humans; Metabolic Diseases; Syndrome; Urine

1954
Paper chromatography of urine in galactosaemia.
    The Medical journal of Australia, 1954, May-08, Volume: 41, Issue:1 19

    Topics: Amino Acids; Chromatography; Chromatography, Paper; Galactose; Galactosemias; Glycosuria; Humans; Urine

1954
Aminoaciduria in galactosaemia.
    Acta paediatrica, 1954, Volume: 43, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood; Body Fluids; Galactose; Galactosemias; Humans; Infant; Infant Nutritional Physiological Phenomena; Urine; Urologic Diseases

1954
Galactosaemia.
    British medical journal, 1954, Sep-11, Volume: 2, Issue:4888

    Topics: Blood; Child; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Jaundice; Liver Diseases

1954
Congenital galactosaemia; report of a case.
    British medical journal, 1954, Sep-11, Volume: 2, Issue:4888

    Topics: Blood; Erythroblastosis, Fetal; Fetus; Galactose; Galactosemias; Hematologic Diseases; Humans; Infant, Newborn; Infant, Newborn, Diseases; Kidney Diseases

1954
Amino-aciduria in galactosemia.
    A.M.A. American journal of diseases of children, 1954, Volume: 88, Issue:4

    Topics: Amino Acids; Antifibrinolytic Agents; Blood; Body Fluids; Chromatography; Galactose; Galactosemias; Humans

1954
[Galactosemia or galactose diabetes].
    Clinica nuova; rassegna del progresso medico internazionale, 1954, Jun-10, Volume: 18, Issue:11

    Topics: Blood; Child; Diabetes Mellitus; Galactose; Galactosemias; Humans; Infant; Metabolic Diseases

1954
Galactosaemia (galactose disease).
    Acta paediatrica, 1954, Volume: 43, Issue:5

    Topics: Blood; Galactose; Galactosemias

1954
Galactosemia.
    Acta paediatrica, 1954, Volume: 43, Issue:6

    Topics: Galactose; Galactosemias; Humans; Liver

1954
Galactosemia in an eight day old infant.
    The Journal of the Louisiana State Medical Society : official organ of the Louisiana State Medical Society, 1955, Volume: 107, Issue:2

    Topics: Blood; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1955
Galactosemia, a case presentation.
    The Journal of the Christian Medical Association of India, 1955, Volume: 30, Issue:3

    Topics: Blood; Galactose; Galactosemias; Humans

1955
[Congenital galactosemia].
    Archiv fur Kinderheilkunde, 1955, Volume: 151, Issue:1

    Topics: Blood; Galactose; Galactosemias

1955
GALACTOSEMIA.
    Nutrition reviews, 1956, Volume: 14, Issue:1

    Topics: Blood; Galactose; Galactosemias; Humans

1956
[Cataract of polyepiphyseal chondrodystrophic calcinosis in fetus (stippled epiphysis disease); cataract caused by galactosemia].
    Bulletins et memoires de la Societe francaise d'ophtalmologie, 1954, Volume: 67

    Topics: Achondroplasia; Blood; Calcinosis; Cataract; Child; Enchondromatosis; Epiphyses; Fetus; Galactose; Galactosemias; Humans; Infant; Osteochondrodysplasias

1954
Galactosaemia.
    Acta paediatrica, 1955, Volume: 44, Issue:2

    Topics: Blood; Galactose; Galactosemias

1955
Some disturbances of erythrocyte metabolism in galactosaemia.
    The Biochemical journal, 1956, Volume: 62, Issue:1

    Topics: Blood; Erythrocytes; Galactose; Galactosemias; Humans

1956
[Late mild forms of galactosemia in two brothers; clinical interpretation and genetic classification of the disease].
    Archives francaises de pediatrie, 1955, Volume: 12, Issue:9

    Topics: Blood; Galactose; Galactosemias; Genetic Therapy; Heredity; Humans; Siblings

1955
Congenital galactosemia, a single enzymatic block in galactose metabolism.
    Science (New York, N.Y.), 1956, Apr-13, Volume: 123, Issue:3198

    Topics: Carbohydrate Metabolism; Galactose; Galactosemias

1956
Galactosemia, a congenital defect in a nucleotide transferase.
    Biochimica et biophysica acta, 1956, Volume: 20, Issue:1

    Topics: Blood; Galactose; Galactosemias; Nucleotides; Transferases

1956
Galactose intolerance: observations on an experimental animal.
    Acta paediatrica, 1956, Volume: 45, Issue:3

    Topics: Animals; Animals, Laboratory; Galactose; Galactosemias

1956
Defect in uptake of galactose-1-phosphate into liver nucleotides in congenital galactosemia.
    Science (New York, N.Y.), 1957, Jan-18, Volume: 125, Issue:3238

    Topics: Biochemical Phenomena; Galactose; Galactosemias; Galactosephosphates; Humans; Liver; Nucleotides

1957
Galactosaemia.
    Canadian Medical Association journal, 1957, Feb-15, Volume: 76, Issue:4

    Topics: Galactose; Galactosemias

1957
Galactosemia.
    The American journal of medicine, 1957, Volume: 22, Issue:5

    Topics: Galactose; Galactosemias; Humans

1957
GALACTOSEMIA: clinical staff conference at the National Institutes of Health.
    Annals of internal medicine, 1957, Volume: 46, Issue:4

    Topics: Galactose; Galactosemias; National Institutes of Health (U.S.); United States

1957
[A case of galactosemia in a two-month-old infant].
    Archives francaises de pediatrie, 1957, Volume: 14, Issue:1

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1957
[First case of congenital galactosemia in Algeria].
    Archives francaises de pediatrie, 1957, Volume: 14, Issue:7

    Topics: Algeria; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1957
[Metabolic modifications in experimental galactosemia].
    Bollettino della Societa italiana di biologia sperimentale, 1957, Volume: 33, Issue:4

    Topics: Biochemical Phenomena; Galactose; Galactosemias

1957
Differentiation of chronic galactosemia and milk allergy in early childhood.
    The Journal of allergy, 1957, Volume: 28, Issue:5

    Topics: Cell Differentiation; Galactose; Galactosemias; Humans; Hypersensitivity; Immune System Diseases; Milk; Milk Hypersensitivity

1957
A specific enzymatic assay for the diagnosis of congenital galactosemia. I. The consumption test.
    The Journal of laboratory and clinical medicine, 1957, Volume: 50, Issue:3

    Topics: Biological Phenomena; Enzyme Assays; Galactose; Galactosemias; Humans; Physiological Phenomena; Transferases

1957
A specific enzymatic assay for the diagnosis of congenital galactosemia. II. The combined test with 4-epimerase.
    The Journal of laboratory and clinical medicine, 1957, Volume: 50, Issue:3

    Topics: Enzyme Assays; Galactose; Galactosemias; Isomerases; Racemases and Epimerases

1957
A specific enzymatic defect in congenital galactosemia.
    Acta genetica et statistica medica, 1957, Volume: 7, Issue:1

    Topics: Enzymes; Galactose; Galactosemias

1957
Laboratory diagnosis of congenital galactosaemia at birth.
    Lancet (London, England), 1958, Jan-04, Volume: 1, Issue:7010

    Topics: Clinical Laboratory Techniques; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Parturition

1958
[Current clinical & therapeutic orientation on galactosemia].
    Recenti progressi in medicina, 1957, Volume: 23, Issue:2

    Topics: Galactose; Galactosemias

1957
Galactosaemia.
    Bibliotheca paediatrica, 1958, Issue:66

    Topics: Galactose; Galactosemias

1958
Congenital galactosaemia and mental health.
    Lancet (London, England), 1958, Feb-01, Volume: 1, Issue:7014

    Topics: Galactose; Galactosemias; Mental Health

1958
Congenital galactosemia.
    United States Armed Forces medical journal, 1958, Volume: 9, Issue:1

    Topics: Galactose; Galactosemias

1958
Galactosemia: progress report on a family with three galactosemic members.
    Journal of the American Medical Women's Association, 1958, Volume: 13, Issue:5

    Topics: Galactose; Galactosemias; Humans; Research Report

1958
[Galactosemia with a discussion of the peculiarity of galactose metabolism].
    Zeitschrift fur Kinderheilkunde, 1957, Volume: 79, Issue:6

    Topics: Carbohydrate Metabolism; Galactose; Galactosemias; Humans

1957
[Secondary disorders of the proximal tubulus; cystinosis, galactosemia, Wilson's pseudosclerosis & renal glycogenosis].
    Monatsschrift fur Kinderheilkunde, 1958, Volume: 106, Issue:3

    Topics: Cystinosis; Galactose; Galactosemias; Glycogen Storage Disease; Hepatolenticular Degeneration; Humans; Kidney; Kidney Diseases; Metabolic Diseases

1958
[Two cases of galactosemia].
    Monatsschrift fur Kinderheilkunde, 1958, Volume: 106, Issue:3

    Topics: Galactose; Galactosemias; Humans

1958
Cataracts in galactosemia.
    A.M.A. archives of ophthalmology, 1958, Volume: 60, Issue:2

    Topics: Cataract; Child; Galactose; Galactosemias; Humans; Infant

1958
[Galactosemia; developmental modalities & biochemical investigations in 2 cases].
    La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1958, May-24, Volume: 34, Issue:24/5

    Topics: Galactose; Galactosemias

1958
[Etiology of congenital galactosemia].
    Polski tygodnik lekarski, 1958, May-26, Volume: 13, Issue:21

    Topics: Galactose; Galactosemias

1958
Studies of erythrocyte phosphate ester metabolism in galactosaemia.
    Clinical science, 1958, Volume: 17, Issue:3

    Topics: Erythrocytes; Esters; Galactose; Galactosemias; Humans; Phosphates; Phosphoric Monoester Hydrolases

1958
Enzyme deficiency diseases. I. Galactosemia.
    Journal of the American Dietetic Association, 1958, Volume: 34, Issue:10

    Topics: Galactose; Galactosemias; Humans; Metabolic Diseases

1958
Galactosemia: a case report.
    American journal of mental deficiency, 1958, Volume: 63, Issue:3

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1958
[Preliminary studies of total blood sugar, galactosemia and glucosemia after oral administration of lactose in premature newborn and in infants several months old].
    Minerva pediatrica, 1958, Aug-25, Volume: 10, Issue:33-34

    Topics: Administration, Oral; Blood Glucose; Carbohydrate Metabolism; Child; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Infant, Premature; Infant, Very Low Birth Weight; Lactose

1958
The heterozygous carrier in galactosaemia.
    Nature, 1958, Nov-15, Volume: 182, Issue:4646

    Topics: Galactose; Galactosemias; Heterozygote

1958
The lens in congenital galactosemia.
    A.M.A. archives of ophthalmology, 1959, Volume: 61, Issue:1

    Topics: Fabaceae; Galactose; Galactosemias; Lens, Crystalline; Lenses

1959
Congenital galactosemia; case report.
    Indian journal of medical sciences, 1958, Volume: 12, Issue:11

    Topics: Galactose; Galactosemias

1958
Jaundice associated with galactosemia in the newborn.
    The Journal of the Indiana State Medical Association, 1958, Volume: 51, Issue:12

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Jaundice

1958
[Laboratory diagnosis of congenital galactosemia in newborn].
    Pharmaceutisch weekblad, 1959, Jan-24, Volume: 94, Issue:2

    Topics: Clinical Laboratory Techniques; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1959
Enzymatic deficiency in congenital galactosemia and its heterozygous carriers.
    Annals of the New York Academy of Sciences, 1958, Oct-13, Volume: 75, Issue:1

    Topics: Galactose; Galactosemias; Heterozygote

1958
Galactosemia presenting with gangrene.
    The Journal of pediatrics, 1959, Volume: 54, Issue:3

    Topics: Child; Galactose; Galactosemias; Gangrene; Humans; Infant

1959
[Galactosemia; death despite supression of dietary galactose].
    Pediatrie, 1959, Volume: 14, Issue:1

    Topics: Death; Diet; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1959
[Galactosemia; survival].
    Pediatrie, 1959, Volume: 14, Issue:1

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1959
[Galactosemia and glycogen disease in children].
    Polski tygodnik lekarski, 1958, Nov-24, Volume: 13, Issue:47

    Topics: Galactose; Galactosemias; Glycogen; Glycogen Storage Disease

1958
Galactosaemia: cerebral haemorrhage while on a galactose-free diet.
    Proceedings of the Royal Society of Medicine, 1959, Volume: 52, Issue:4

    Topics: Cerebral Hemorrhage; Child; Diet; Galactose; Galactosemias; Humans; Infant

1959
[A new disease, galactosemia].
    Wiener medizinische Wochenschrift (1946), 1959, Jan-10, Volume: 109, Issue:2

    Topics: Galactose; Galactosemias; Humans

1959
Galactose metabolism and galactosemia.
    The American journal of medicine, 1959, Volume: 26, Issue:5

    Topics: Galactose; Galactosemias; Humans

1959
The occurrence of a positive Coombs test in a case of galactosemia.
    The Journal of pediatrics, 1959, Volume: 54, Issue:6

    Topics: Coombs Test; Galactose; Galactosemias; Hemagglutination

1959
Detection of carriers in hereditary galactosaemia.
    Nature, 1959, May-02, Volume: 183, Issue:4670

    Topics: Galactose; Galactosemias; Heterozygote

1959
[Galactosemia in infants; a further case].
    La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1959, Apr-24, Volume: 35, Issue:19/4

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1959
Drug-induced hemolytic anemias and congenital galactosemia: examples of genetically determined defects in erythrocyte metabolism.
    Bulletin of the New York Academy of Medicine, 1959, Volume: 35, Issue:7

    Topics: Anemia, Hemolytic; Erythrocytes; Galactose; Galactosemias

1959
Galactose intolerance in kwashiorkor.
    The Journal of tropical medicine and hygiene, 1961, Volume: 64

    Topics: Carbohydrate Metabolism; Galactose; Galactosemias; Kwashiorkor

1961
Galactosemia. A family study.
    American journal of diseases of children (1960), 1961, Volume: 101

    Topics: Galactose; Galactosemias; Humans; Research

1961
[On the biochemical genetics of galactosemia].
    Helvetica paediatrica acta, 1961, Volume: 16

    Topics: Galactose; Galactosemias; Genetics, Medical; Molecular Biology

1961
Galactosaemia.
    British medical bulletin, 1961, Volume: 17

    Topics: Galactose; Galactosemias; Humans

1961
Further studies on the heterozygous carrier in galactosemia.
    The Journal of laboratory and clinical medicine, 1960, Volume: 56

    Topics: Galactose; Galactosemias; Heterozygote; Humans

1960
The genetic mechanism of galactosaemia.
    Archives of disease in childhood, 1960, Volume: 35

    Topics: Galactose; Galactosemias; Genetic Therapy; Humans

1960
Growth and development of children with galactosemia.
    The Journal of pediatrics, 1961, Volume: 58

    Topics: Child; Galactose; Galactosemias; Growth; Growth and Development; Humans; Infant

1961
[Anasarca of fatal course in a newborn infant. Possible role of a congenital galactosemia].
    Pediatrie, 1961, Volume: 16

    Topics: Edema; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1961
Effects of galactosemia.
    The Anatomical record, 1960, Volume: 138

    Topics: Galactose; Galactosemias; Humans

1960
[2 cases of galactosemia--favorable outcome].
    Pediatrie, 1961, Volume: 16

    Topics: Galactose; Galactosemias; Humans

1961
The value of galactose phosphate determinations in the treatment of galactosaemia.
    Archives of disease in childhood, 1960, Volume: 35

    Topics: Galactose; Galactosemias; Humans; Phosphates

1960
Galactosaemia.
    Cerebral palsy bulletin, 1961, Volume: 3

    Topics: Galactose; Galactosemias

1961
Studies on cell lines developed from the tissues of patients with galactosemia.
    The Journal of experimental medicine, 1961, Jun-01, Volume: 113

    Topics: Cell Line; Escherichia coli; Galactose; Galactosemias; Glucose; Humans; Kinetics; Tissue Culture Techniques

1961
Galactosaemia. Report of a case.
    Acta paediatrica, 1960, Volume: 49

    Topics: Galactose; Galactosemias

1960
[Galactosemia. A congenital enzyme defect and its demonstration].
    Ugeskrift for laeger, 1960, Sep-09, Volume: 122

    Topics: Galactose; Galactosemias; Metabolic Diseases

1960
[Galactosemia-servere neonatal form. Favorable result of a new dietetic product].
    Pediatrie, 1959, Volume: 14

    Topics: Dietetics; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1959
Galactosemia. A genetic study of four generations by enzyme assay.
    American journal of diseases of children (1960), 1960, Volume: 100

    Topics: Enzyme Assays; Galactose; Galactosemias; Metabolic Diseases; Research

1960
Galactosemia.
    Pediatric clinics of North America, 1960, Volume: 7

    Topics: Galactose; Galactosemias; Humans

1960
The enzymatic expression of heterozygosity in families of children with galactosemia.
    Pediatrics, 1960, Volume: 25

    Topics: Enzymes; Galactose; Galactosemias; Heterozygote; Metabolic Diseases

1960
Genetic studies in galactosemia. I. The oral galactose tolerance test and the heterozygous state.
    Pediatrics, 1959, Volume: 24

    Topics: Galactose; Galactosemias; Heterozygote; Humans; Research

1959
[Biochemical diagnosis of galactosemia].
    Ceskoslovenska pediatrie, 1959, Volume: 14

    Topics: Galactose; Galactosemias

1959
Galactosemia with old adrenal hemorrhage and altered pancreatic secretion. Report of a case with necropsy.
    Annales paediatrici. International review of pediatrics, 1962, Volume: 198

    Topics: Adrenal Gland Diseases; Adrenal Glands; Autopsy; Galactose; Galactosemias; Hemorrhage; Humans; Pancreatic Juice

1962
A case of galactosaemia with the pathological and neuropathological findings.
    Archives of disease in childhood, 1962, Volume: 37

    Topics: Brain; Brain Diseases; Galactose; Galactosemias; Humans; Intellectual Disability; Nervous System Diseases; Neurologic Manifestations

1962
Galactosemia; a study of two cases.
    Indian journal of pediatrics, 1961, Volume: 28

    Topics: Galactose; Galactosemias

1961
[Studies of glycide metabolism in galactosemia and fructosemia].
    Revue francaise d'etudes cliniques et biologiques, 1962, Volume: 7

    Topics: Carbohydrate Metabolism; Epoxy Compounds; Fructose; Fructose Intolerance; Galactose; Galactosemias; Humans; Metabolic Diseases; Propanols

1962
[A new method for the detection of congenital galactosemia].
    Clinica chimica acta; international journal of clinical chemistry, 1962, Volume: 7

    Topics: Galactose; Galactosemias; Humans

1962
[Galactosemia and the hereditary intolerance to fructose].
    La Medecine infantile, 1962, Volume: 69

    Topics: Carbohydrate Metabolism; Fructose; Galactose; Galactosemias; Humans

1962
[Galactosemia: early detection of a case].
    Archives francaises de pediatrie, 1961, Volume: 18

    Topics: Early Diagnosis; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1961
Galactosaemia.
    Current medicine and drugs, 1961, Volume: 2

    Topics: Galactose; Galactosemias

1961
A study of the genetics of galactosaemia.
    Annals of human genetics, 1961, Volume: 25

    Topics: Galactose; Galactosemias; Humans

1961
[Observations on galactosemia].
    Archiv fur Kinderheilkunde, 1962, Volume: 166

    Topics: Galactose; Galactosemias; Humans

1962
[Apropos of the galactose cataract].
    Bulletin de l'Academie royale de medecine de Belgique, 1962, Volume: 2

    Topics: Cataract; Galactose; Galactosemias; Humans

1962
Insulin response to fructose and galactose.
    Lancet (London, England), 1963, Apr-27, Volume: 1, Issue:7287

    Topics: Fructose; Galactose; Galactosemias; Humans; Hypoglycemia; Insulin

1963
Beneficial effect of orotic acid upon galactose metabolism of erythrocytes from congenital galactosemia.
    The Tohoku journal of experimental medicine, 1962, Sep-25, Volume: 77

    Topics: Carbohydrate Metabolism; Erythrocytes; Galactose; Galactosemias; Humans; Orotic Acid

1962
Galactose metabolism: phenotypic differences among tissues of a patient with congenital galactosaemia.
    Nature, 1962, Dec-08, Volume: 196

    Topics: Carbohydrate Metabolism; Galactose; Galactosemias; Humans

1962
Insulin response to fructose and galactose.
    Lancet (London, England), 1963, Mar-02, Volume: 1, Issue:7279

    Topics: Fructose; Galactose; Galactosemias; Glucose Tolerance Test; Humans; Insulin

1963
A galactose-oxidase method for the determination of galactose in blood plasma.
    Clinica chimica acta; international journal of clinical chemistry, 1962, Volume: 7

    Topics: Blood Chemical Analysis; Galactose; Galactose Oxidase; Galactosemias; Humans; Oxidoreductases; Plasma

1962
Galactosemia: a study of twenty-seven kindreds in North America.
    Annals of human genetics, 1962, Volume: 25

    Topics: Galactose; Galactosemias; Humans; Metabolic Diseases; North America

1962
Detection of congenital galactosemia and the carrier state using galactose C14 and blood cells.
    Metabolism: clinical and experimental, 1961, Volume: 10

    Topics: Blood Cells; Carrier State; Galactose; Galactosemias

1961
A clinical test for galactosemia. The galactose-methemoglobin test.
    American journal of clinical pathology, 1963, Volume: 39

    Topics: Erythrocytes; Galactose; Galactosemias; Hemoglobinometry; Humans; Methemoglobin

1963
Variability in the clinical manifestations of galactosemia.
    The Journal of pediatrics, 1962, Volume: 61

    Topics: Galactose; Galactosemias

1962
THE ESTIMATION OF BLOOD GALACTOSE USING A GLUCOSE OXIDASE-CATALASE REAGENT.
    Journal of clinical pathology, 1963, Volume: 16

    Topics: Blood Chemical Analysis; Blood Glucose; Catalase; Galactose; Galactosemias; Glucose Oxidase; Humans; Indicators and Reagents

1963
[ON THE BLOOD LEVEL, EXCRETION AND METABOLISM OF GALACTOSE FOLLOWING PROLONGED INFUSION IN RABBITS].
    Zeitschrift fur die gesamte experimentelle Medizin, 1963, Oct-10, Volume: 137

    Topics: Animals; Biological Transport; Carbohydrate Metabolism; Duodenum; Galactose; Galactosemias; Infusions, Parenteral; Jugular Veins; Portal Vein; Rabbits; Research; Urine

1963
[GALACTOSEMIA].
    [Sogo rinsho] Clinic all-round, 1963, Volume: 12

    Topics: Biochemical Phenomena; Biochemistry; Body Fluids; Carbohydrate Metabolism; Dairy Products; Diagnosis; Diet; Diet Therapy; Galactose; Galactosemias; Humans; Milk; Pathology; Physiology; Urine

1963
SYNTHESIS OF CREATINE PHOSPHATE BY THE CRYSTALLINE LENS; IN NORMAL CONDITIONS AND DURING THE DEVELOPMENT OF GALACTOSE CATARACT.
    American journal of ophthalmology, 1964, Volume: 57

    Topics: Adenosine Triphosphate; Cataract; Coenzymes; Creatine; Creatinine; Eye Proteins; Galactose; Galactosemias; Lens, Crystalline; Magnesium; Metabolism; Phosphocreatine; Phosphotransferases; Rabbits; Rats; Research; Tissue Extracts

1964
STUDIES ON GALACTOSE OXIDATION IN DOWN'S SYNDROME.
    The New England journal of medicine, 1964, May-21, Volume: 270

    Topics: Alcohol Oxidoreductases; Carbohydrate Metabolism; Carbon Isotopes; Down Syndrome; Erythrocytes; Galactose; Galactosemias; Glucosephosphate Dehydrogenase; Leukocytes; Nucleotidyltransferases; Oxidation-Reduction

1964
A MICRODIFFUSION TEST FOR CONGENITAL GALACTOSEMIA UTILIZING GALACTOSE-1-C14.
    Pediatrics, 1964, Volume: 33

    Topics: Blood Chemical Analysis; Carbon Isotopes; Galactose; Galactosemias; Genetics, Medical; Glucose Oxidase; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases

1964
[GALACTOSE INTOLERANCE IN A NEWBORN].
    Deutsche medizinische Wochenschrift (1946), 1964, May-22, Volume: 89

    Topics: Diagnosis; Diet; Diet Therapy; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Jaundice; Jaundice, Neonatal

1964
CATION FLUXES IN GALACTOSAEMIC ERYTHROCYTES.
    Nature, 1964, Mar-21, Volume: 201

    Topics: Adenosine Triphosphatases; Alkaline Phosphatase; Biological Transport; Cations; Child; Erythrocytes; Galactose; Galactosemias; Glucose; Hexosephosphates; Infant; Metabolism; Permeability; Pharmacology; Potassium; Sodium

1964
DETERMINATION OF EXOGENOUS GALACTOSE IN BLOOD USING "SPECIALLY PURIFIED" GLUCOSE OXIDASE.
    Clinical chemistry, 1964, Volume: 10

    Topics: Colorimetry; Diagnosis; Galactose; Galactosemias; Glucose Oxidase; Humans; Liver Function Tests; Research

1964
SEROTONIN RECEPTORS. IV. SPECIFIC DEFICIENCY OF RECEPTORS IN GALACTOSE POISONING AND ITS POSSIBLE RELATIONSHIP TO THE IDIOCY OF GALACTOSEMIA.
    Proceedings of the National Academy of Sciences of the United States of America, 1964, Volume: 52

    Topics: Acetylcholine; Brain Chemistry; Cerebrosides; Dietary Carbohydrates; Epinephrine; Galactose; Galactosemias; Gangliosides; Glucose; Intellectual Disability; Lipids; Pharmacology; Phenylketonurias; Rats; Receptors, Serotonin; Research; Serotonin; Stomach; Toxicology; Transferases

1964
GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN GALACTOSAEMIA.
    Nature, 1964, Aug-22, Volume: 203

    Topics: Carbon Dioxide; Clinical Enzyme Tests; Erythrocytes; Galactose; Galactosemias; Galactosephosphates; Genetics, Medical; Humans; Leukocytes; Metabolism; Nucleotidyltransferases; UDPglucose-Hexose-1-Phosphate Uridylyltransferase

1964
GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ASSAY BY USE OF RADIOACTIVE GALACTOSE-1-PHOSPHATE.
    Clinica chimica acta; international journal of clinical chemistry, 1964, Volume: 10

    Topics: Biological Assay; Blood; Down Syndrome; Galactose; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Nucleotidyltransferases; UTP-Hexose-1-Phosphate Uridylyltransferase

1964
[PAPER CHROMATOGRAPHY OF URINARY SUGARS].
    Studii si cercetari de endocrinologie, 1964, Volume: 15

    Topics: Adolescent; Arabinose; Carbohydrates; Chromatography; Chromatography, Paper; Diabetes Mellitus; Diabetes Mellitus, Type 1; Diagnosis; Fructose; Galactose; Galactosemias; Glucose; Glycosuria; Glycosuria, Renal; Hexoses; Humans; Liver Cirrhosis; Nephrosis; Sucrose; Urine; Xylose

1964
ERYTHROCYTE METABOLISM IN GALACTOSEMIA.
    Pediatrics, 1965, Volume: 35

    Topics: Adenosine Triphosphate; Child; Erythrocytes; Galactose; Galactosemias; Glycerophosphates; Humans; Nucleotidyltransferases; Phosphates; Phosphorus Isotopes

1965
[INVESTIGATIONS IN GALACTOSAEMIA CASES].
    Annales paediatrici. International review of pediatrics, 1964, Volume: 203

    Topics: Chromosomes; Clinical Enzyme Tests; Galactose; Galactosemias; Glucose Tolerance Test; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Liver Function Tests

1964
THE ISOLATION AND IDENTIFICATION OF GALACTITOL FROM THE URINE OF PATIENTS WITH GALACTOSEMIA.
    The Journal of biological chemistry, 1964, Volume: 239

    Topics: Alcohols; Blood Chemical Analysis; Body Fluids; Carbohydrate Metabolism; Chromatography; Galactitol; Galactose; Galactosemias; Humans; Infant; Urine

1964
THE METABOLISM OF GALACTOSE BY PATIENTS WITH CONGENITAL GALACTOSEMIA.
    The American journal of medicine, 1965, Volume: 38

    Topics: Adolescent; Carbohydrate Metabolism; Carbon Isotopes; Child; Galactose; Galactosemias; Humans; Radiometry

1965
[GALACTOSE DISEASE].
    Voprosy okhrany materinstva i detstva, 1965, Volume: 10

    Topics: Child; Clinical Laboratory Techniques; Diagnosis; Galactose; Galactosemias; Humans; Laboratories

1965
POINT OF IRREVERSIBILITY OF GALACTOSE CATARACTS IN THE RAT.
    Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1965, Volume: 118

    Topics: Adenosine Triphosphate; Cataract; Dietary Carbohydrates; Galactose; Galactosemias; Hexoses; Pathology; Pharmacology; Rats; Research; Toxicology

1965
LENS ASSAYS ON DIABETIC AND GALACTOSEMIC RATS RECEIVING DIETS THAT MODIFY CATARACT DEVELOPMENT.
    Investigative ophthalmology, 1965, Volume: 4

    Topics: Amino Acids; Animals; Caseins; Cataract; Diabetes Mellitus, Experimental; Diet; Dietary Carbohydrates; Dietary Fats; Eye Proteins; Fructose; Galactose; Galactosemias; Glucose; Histocytochemistry; Hyperglycemia; Lens, Crystalline; Metabolism; Rats; Research; Sorbitol

1965
THE HANDLING OF SOYA ALPHA-GALACTOSIDES BY A NORMAL AND A GALACTOSEMIC CHILD.
    Pediatrics, 1965, Volume: 36

    Topics: Carbohydrate Metabolism; Child; Clinical Enzyme Tests; Disaccharides; Galactose; Galactosemias; Galactosidases; Galactosides; Glycine max; Humans; Intestines; Polysaccharides

1965
THE ESTIMATION OF GALACTOSE-I-PHOSPHATE IN RED CELLS.
    Clinica chimica acta; international journal of clinical chemistry, 1965, Volume: 11

    Topics: Blood Chemical Analysis; Chromatography; Erythrocytes; Galactose; Galactosemias; Hexosephosphates; Humans; Ion Exchange Resins; Phosphates

1965
TRANSPLACENTAL GALACTOSE TOXICITY IN RATS.
    The Journal of pediatrics, 1965, Volume: 67

    Topics: Abnormalities, Drug-Induced; Animals, Newborn; Cataract; Eye; Female; Fetus; Galactose; Galactosemias; Histocytochemistry; Humans; Infant, Newborn; Kidney; Liver; Maternal-Fetal Exchange; Pathology; Pregnancy; Rats; Research; Toxicology

1965
[Pathogenesis of galactosemia].
    Annales paediatrici. International review of pediatrics, 1954, Volume: 183, Issue:6

    Topics: Blood; Galactose; Galactosemias; Humans

1954
[Case of galactosemia in infant].
    Pediatrie, 1954, Volume: 9, Issue:8

    Topics: Blood; Galactose; Galactosemias; Humans; Infant; Infant, Newborn

1954
Metabolic observations on the erythrocytes from cases of galactosaemia.
    The Biochemical journal, 1955, Jan-15, Volume: 59, Issue:336th Meet

    Topics: Blood; Erythrocytes; Galactose; Galactosemias; Humans

1955
Galactosemia with cataracts; report of a case, with notes on physiopathology.
    The New England journal of medicine, 1955, May-05, Volume: 252, Issue:18

    Topics: Aged; Cataract; Galactose; Galactosemias; Humans

1955
A case of galactosaemia with special reference to mental development.
    Archives of disease in childhood, 1955, Volume: 30, Issue:150

    Topics: Galactose; Galactosemias; Humans; Intelligence

1955
The amino-aciduria in galactosaemia.
    Archives of disease in childhood, 1955, Volume: 30, Issue:150

    Topics: Amino Acids; Galactose; Galactosemias; Humans; Urine

1955
A study of the genetics of galactosaemia.
    Archives of disease in childhood, 1955, Volume: 30, Issue:150

    Topics: Galactose; Galactosemias; Heredity; Humans

1955
Idiopathic galactose intolerance in a premature infant.
    Canadian Medical Association journal, 1955, Jun-15, Volume: 72, Issue:12

    Topics: Carbohydrate Metabolism; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases

1955
Low-lactose milk for congenital galactosaemia.
    Lancet (London, England), 1955, Jun-04, Volume: 268, Issue:6875

    Topics: Animals; Blood; Breast; Galactose; Galactosemias; Humans; Lactose; Milk

1955
[Diagnosis and therapy of galactosemia and phenylketonuria].
    Monatsschrift fur Kinderheilkunde, 1955, Volume: 103, Issue:2

    Topics: Blood; Body Fluids; Galactose; Galactosemias; Humans; Phenylalanine; Phenylketonurias; Urine

1955
CONGENITAL galactosaemia.
    Lancet (London, England), 1955, Jul-09, Volume: 269, Issue:6880

    Topics: Blood; Galactose; Galactosemias

1955
Galactosaemia presenting with gangrene of the right foot.
    Proceedings of the Royal Society of Medicine, 1955, Volume: 48, Issue:5

    Topics: Blood; Foot; Foot Diseases; Galactose; Galactosemias; Gangrene; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Ischemia

1955
[On the biochemistry of essential pentosuria, congenital galactosemia and phenylketonuria].
    Klinische Wochenschrift, 1959, Jul-15, Volume: 37

    Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Galactosemias; Humans; Pentoses; Phenylketonurias; Sugar Alcohol Dehydrogenases; Xylulose

1959
Studies on the heterozygous carrier in galactosemia.
    The Journal of laboratory and clinical medicine, 1959, Volume: 54

    Topics: Galactose; Galactosemias; Heterozygote; Humans

1959
The treatment of congenital galactosaemia.
    Archives of disease in childhood, 1959, Volume: 34

    Topics: Diet; Diet Therapy; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1959
Galactosemia.
    Metabolism: clinical and experimental, 1960, Volume: 9

    Topics: Galactose; Galactosemias; Humans

1960
[Latent form of galactosemia in an infant with defect of urinary acidification].
    Pediatrie, 1960, Volume: 15

    Topics: Galactose; Galactosemias; Homeostasis; Humans; Infant; Urinary Tract

1960
Progesterone effects on galactose metabolism in prepubertal patients with congenital galactosemia and in rats maintained on high galactose diets.
    The Journal of clinical investigation, 1960, Volume: 39

    Topics: Animals; Diet; Galactose; Galactosemias; Humans; Progesterone; Rats

1960
A simplified diagnostic test for galactosemia.
    The Journal of laboratory and clinical medicine, 1960, Volume: 56

    Topics: Diagnostic Tests, Routine; Galactose; Galactosemias

1960
[Determination of erythrocyte galactose-1-phosphate uridyltransferase in experimental galactosemia and variations induced by orotic acid].
    Acta vitaminologica, 1960, Volume: 14

    Topics: Erythrocytes; Galactose; Galactosemias; Orotic Acid; Transferases; UTP-Hexose-1-Phosphate Uridylyltransferase

1960
Galactosemia: clinical, genetic, and biochemical study.
    JAMA, 1961, Dec-02, Volume: 178

    Topics: Galactose; Galactosemias; Humans

1961
Variability in the clinical manifestations of galactosemia.
    The Journal of pediatrics, 1961, Volume: 59

    Topics: Child; Galactose; Galactosemias; Infant; Metabolic Diseases

1961
Hereditary galactosemia.
    Research publications - Association for Research in Nervous and Mental Disease, 1962, Volume: 39

    Topics: Carbohydrate Metabolism; Galactose; Galactosemias; Metabolic Diseases

1962
The lens in human and experimental galactosemia.
    New York state journal of medicine, 1962, Mar-15, Volume: 62

    Topics: Fabaceae; Galactose; Galactosemias; Humans; Lens, Crystalline; Lenses

1962
[Galactosemia in infants. Apropos of a new familial case].
    Toulouse medical, 1962, Volume: 63

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases

1962
Galactosemia--a clinical and biochemical review; with report of a case.
    Delaware medical journal, 1962, Volume: 34

    Topics: Galactose; Galactosemias

1962
Development and application of a simplified colorimetric method for detecting carriers of galactosemia.
    Clinica chimica acta; international journal of clinical chemistry, 1961, Volume: 6

    Topics: Colorimetry; Galactose; Galactosemias; Genetic Carrier Screening; Humans

1961
[On liver cirrhosis in an infant with galactosemia].
    Zentralblatt fur allgemeine Pathologie u. pathologische Anatomie, 1962, May-30, Volume: 103

    Topics: Child; Galactose; Galactosemias; Humans; Infant; Liver Cirrhosis

1962
[Observations on galactosemia].
    Monatsschrift fur Kinderheilkunde, 1962, Volume: 110

    Topics: Galactose; Galactosemias; Humans; Metabolic Diseases; Transferases

1962
Renal excretion of galactose and galactitol in patients with classical galactosaemia, obligate heterozygous parents and healthy subjects.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:5

    Topics: Adolescent; Adult; Age Factors; Aged; Child; Child, Preschool; Female; Galactitol; Galactose; Galactosemias; Heterozygote; Humans; Kidney; Male; Middle Aged

2003
Stable-isotope dilution analysis of galactose metabolites in human erythrocytes.
    Rapid communications in mass spectrometry : RCM, 2003, Volume: 17, Issue:24

    Topics: Blood Chemical Analysis; Erythrocytes; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Gas Chromatography-Mass Spectrometry; Humans; Isotope Labeling; Male; Metabolic Clearance Rate; Radioisotope Dilution Technique; Reproducibility of Results; Sensitivity and Specificity

2003
Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients.
    Molecular genetics and metabolism, 2004, Volume: 81, Issue:1

    Topics: Adolescent; Adult; Age Factors; Body Height; Body Weight; Carbon Isotopes; Child; Child, Preschool; Galactitol; Galactose; Galactosemias; Humans; Infusion Pumps; Models, Biological; Mutation; Sugar Acids; UTP-Hexose-1-Phosphate Uridylyltransferase

2004
Galactonate determination in urine by stable isotope dilution gas chromatography-mass spectrometry.
    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2004, Mar-05, Volume: 801, Issue:2

    Topics: Adolescent; Adult; Carbon Isotopes; Child; Child, Preschool; Female; Galactitol; Galactose; Galactosemias; Gas Chromatography-Mass Spectrometry; Humans; Indicator Dilution Techniques; Lactones; Male; Quality Control; Sensitivity and Specificity; Sugar Acids

2004
Free galactose concentrations in fresh and stored apples (Malus domestica) and processed apple products.
    Journal of agricultural and food chemistry, 2004, Feb-11, Volume: 52, Issue:3

    Topics: Beverages; Cold Temperature; Enzymes; Food Handling; Food Preservation; Fruit; Galactose; Galactosemias; Hot Temperature; Humans; Malus; Pectins; Species Specificity

2004
Galactosemia. Report of four cases.
    Pediatrics, 1951, Volume: 7, Issue:4

    Topics: Galactose; Galactosemias; Humans

1951
Galactosemia in infancy report of a case with observation for 24 months.
    Pediatrics, 1951, Volume: 7, Issue:5

    Topics: Galactose; Galactosemias; Humans; Infant

1951
Galactosemia and its relation to Laennec's cirrhosis; review of the literature and presentation of six additional cases.
    Pediatrics, 1951, Volume: 7, Issue:6

    Topics: Galactose; Galactosemias; Humans; Liver Cirrhosis

1951
Chronic galactosemia.
    American practitioner and digest of treatment, 1951, Volume: 2, Issue:7

    Topics: Galactose; Galactosemias; Humans; Metabolism

1951
Human galactosemia cataract; report of a case.
    American journal of ophthalmology, 1951, Volume: 34, Issue:9

    Topics: Cataract; Galactose; Galactosemias

1951
Galactosemia cataract; report of a case.
    American journal of ophthalmology, 1951, Volume: 34, Issue:9

    Topics: Aged; Cataract; Galactose; Galactosemias; Humans

1951
Amino-aciduria in galactosaemia.
    British medical journal, 1952, Jan-26, Volume: 1, Issue:4751

    Topics: Galactose; Galactosemias

1952
[Familial fatty degeneration of the liver associated with galactosemia].
    Maandschrift voor kindergeneeskunde, 1951, Volume: 19, Issue:8-9

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Liver Diseases

1951
Galactosaemia.
    Archives of disease in childhood, 1952, Volume: 27, Issue:134

    Topics: Child; Galactose; Galactosemias; Humans; Pediatrics

1952
Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging.
    Journal of inherited metabolic disease, 2004, Volume: 27, Issue:1

    Topics: Acute Disease; alpha-Fetoproteins; Bile Acids and Salts; Chronic Disease; Galactose; Galactosemias; Hemangioendothelioma; Heterozygote; Humans; Infant, Newborn; Liver Neoplasms; Mass Screening; Metabolism, Inborn Errors; Portal System; Portal Vein; Severity of Illness Index; UDPglucose 4-Epimerase; Ultrasonography, Doppler, Color; UTP-Hexose-1-Phosphate Uridylyltransferase

2004
Protective effect of L-cysteine and glutathione on the modulated suckling rat brain Na+, K+, -ATPase and Mg2+ -ATPase activities induced by the in vitro galactosaemia.
    Pharmacological research, 2004, Volume: 49, Issue:5

    Topics: Animals; Animals, Suckling; Antioxidants; Brain; Brain Diseases, Metabolic, Inborn; Ca(2+) Mg(2+)-ATPase; Cysteine; Drug Combinations; Drug Evaluation, Preclinical; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Glutathione; Male; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase

2004
Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.
    Journal of molecular biology, 2004, Mar-19, Volume: 337, Issue:2

    Topics: Adenosine Diphosphate; Amino Acid Sequence; Binding Sites; Catalytic Domain; Crystallography, X-Ray; Galactokinase; Galactose; Galactosemias; Humans; Models, Molecular; Molecular Sequence Data; Mutation; Protein Conformation; Protein Folding; Pyrococcus furiosus; Saccharomyces cerevisiae; Saccharomyces cerevisiae Proteins; Sequence Homology, Amino Acid; Static Electricity; Substrate Specificity; Transcription Factors

2004
High tolerance for oral galactose in classical galactosaemia: dietary implications.
    Archives of disease in childhood, 2004, Volume: 89, Issue:11

    Topics: Administration, Oral; Adolescent; Drug Tolerance; Female; Fruit; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Male; Vegetables

2004
Molecular structure of human galactokinase: implications for type II galactosemia.
    The Journal of biological chemistry, 2005, Mar-11, Volume: 280, Issue:10

    Topics: Amino Acid Sequence; Binding Sites; Cloning, Molecular; Disulfides; Escherichia coli; Galactokinase; Galactose; Galactosemias; Humans; Mutagenesis, Site-Directed; Protein Conformation; Protein Structure, Secondary; Recombinant Proteins

2005
[Galactose].
    Nihon rinsho. Japanese journal of clinical medicine, 2004, Volume: 62 Suppl 11

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn

2004
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.
    Molecular genetics and metabolism, 2005, Volume: 84, Issue:1

    Topics: Alleles; Amino Acid Sequence; Blood Cells; Blotting, Western; Galactose; Galactosemias; Gene Expression; Humans; Molecular Sequence Data; Mutation, Missense; Plasmids; Protein Conformation; Saccharomyces cerevisiae; Sequence Alignment; Transfection; UDPglucose 4-Epimerase

2005
Mg2+-ATPase activity in suckling rat brain regions in galactosaemia in vitro. L-Cysteine and glutathione effects.
    Toxicology in vitro : an international journal published in association with BIBRA, 2005, Volume: 19, Issue:2

    Topics: Animals; Animals, Suckling; Antioxidants; Brain; Ca(2+) Mg(2+)-ATPase; Cysteine; Drug Combinations; Enzyme Activation; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Glutathione; Male; Rats; Rats, Wistar

2005
Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia.
    Molecular genetics and metabolism, 2005, Volume: 84, Issue:3

    Topics: Adult; Case-Control Studies; Circadian Rhythm; Galactose; Galactosemias; Gas Chromatography-Mass Spectrometry; Humans

2005
Mediators of galactose sensitivity in UDP-galactose 4'-epimerase-impaired mammalian cells.
    The Journal of biological chemistry, 2005, Apr-08, Volume: 280, Issue:14

    Topics: Animals; Bromodeoxyuridine; CHO Cells; Cricetinae; Escherichia coli Proteins; Galactose; Galactosemias; Humans; Substrate Specificity; UDPglucose 4-Epimerase; Uridine; Uridine Diphosphate Sugars

2005
Gene expression profiling of diabetic and galactosaemic cataractous rat lens by microarray analysis.
    Diabetologia, 2005, Volume: 48, Issue:4

    Topics: Animals; Apoptosis; bcl-2-Associated X Protein; Cataract; Diabetes Mellitus, Experimental; DNA, Complementary; Down-Regulation; Galactose; Galactosemias; Gene Expression Profiling; Insulin-Like Growth Factor I; Intercellular Signaling Peptides and Proteins; Lens, Crystalline; NF-kappa B; Oligonucleotide Array Sequence Analysis; Peroxidases; Peroxiredoxins; Polymerase Chain Reaction; Proto-Oncogene Proteins c-bcl-2; Rats; Rats, Sprague-Dawley; RNA, Messenger; Transforming Growth Factor beta; Up-Regulation

2005
UDP-galactose pyrophosphorylase in mice with galactose-1-phosphate uridyltransferase deficiency.
    Molecular genetics and metabolism, 2005, Volume: 85, Issue:1

    Topics: Animals; Blotting, Northern; Galactose; Galactosemias; Kinetics; Mice; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; UTP-Hexose-1-Phosphate Uridylyltransferase

2005
Galactosaemia: early treatment with an elemental formula.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:2

    Topics: Erythrocytes; Female; Food, Formulated; Galactose; Galactosemias; Galactosephosphates; Humans; Infant Formula; Infant, Newborn; Infant, Newborn, Diseases

2005
Dietary management of galactosemia.
    The Southeast Asian journal of tropical medicine and public health, 2003, Volume: 34 Suppl 3

    Topics: Australia; Dietetics; Galactose; Galactosemias; Humans; Infant; Infant Food; Infant Nutritional Physiological Phenomena; Infant, Newborn; Neonatal Screening; Program Development

2003
Suckling rat brain regional distribution of Na+,K+-atpase activity in the in vitro galactosaemia: the effect of L-cysteine and glutathione.
    Metabolic brain disease, 2005, Volume: 20, Issue:1

    Topics: Animals; Animals, Suckling; Antioxidants; Brain; Brain Chemistry; Cysteine; Disease Models, Animal; Enzyme Activation; Female; Free Radicals; Galactitol; Galactose; Galactosemias; Galactosephosphates; Glutathione; In Vitro Techniques; Male; Oxidative Stress; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Subcellular Fractions

2005
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.
    Glycobiology, 2005, Volume: 15, Issue:12

    Topics: Binding Sites; Chromatography, Liquid; Fucose; Galactose; Galactosemias; Glycolipids; Glycoproteins; Glycosylation; Humans; Hydrogen-Ion Concentration; Ions; Isoelectric Focusing; Male; Polysaccharides; Spectrometry, Mass, Electrospray Ionization; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; Temperature; Transferrin

2005
Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model.
    Molecular genetics and metabolism, 2005, Volume: 86, Issue:3

    Topics: Environment; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Gene Expression Profiling; Humans; Models, Biological; Mutation; Oligonucleotide Array Sequence Analysis; Saccharomyces cerevisiae; UTP-Hexose-1-Phosphate Uridylyltransferase

2005
Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose.
    Molecular genetics and metabolism, 2006, Volume: 87, Issue:2

    Topics: Acetaminophen; Adult; Amino Acid Substitution; Blood Glucose; Carbon Dioxide; Carbon Radioisotopes; Galactose; Galactosemias; Heterozygote; Homozygote; Humans; Liver; Magnetic Resonance Spectroscopy; Male; Mutation; Uridine Diphosphate Glucose; UTP-Hexose-1-Phosphate Uridylyltransferase

2006
Erythrocyte membrane acetylcholinesterase, Na+, K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia.
    Acta paediatrica (Oslo, Norway : 1992), 2005, Volume: 94, Issue:9

    Topics: Acetylcholinesterase; Ca(2+) Mg(2+)-ATPase; Child; Erythrocyte Membrane; Galactose; Galactosemias; Galactosephosphates; Greece; Humans; Hydrolases; Sodium-Potassium-Exchanging ATPase

2005
Epimerase-deficiency galactosemia is not a binary condition.
    American journal of human genetics, 2006, Volume: 78, Issue:1

    Topics: Base Sequence; Chromatography, High Pressure Liquid; DNA Mutational Analysis; DNA Primers; Erythrocytes; Galactose; Galactosemias; Georgia; Humans; Lymphocytes; Molecular Sequence Data; Sequence Analysis, DNA; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

2006
Untreated classical galactosemia patient with mild phenotype.
    Molecular genetics and metabolism, 2006, Volume: 89, Issue:3

    Topics: Adult; Carbon Isotopes; Galactose; Galactosemias; Humans; Male; Oxidation-Reduction; Phenotype

2006
Of mice and men: galactosemia.
    Molecular genetics and metabolism, 2006, Volume: 89, Issue:4

    Topics: Animals; Galactose; Galactosemias; Gene Deletion; Homozygote; Humans; Mice; Mice, Knockout; Mutation; Phenotype; UTP-Hexose-1-Phosphate Uridylyltransferase

2006
Metabolic fate of administered [13C]galactose in tissues of galactose-1-phosphate uridyl transferase deficient mice determined by nuclear magnetic resonance.
    Molecular genetics and metabolism, 2007, Volume: 90, Issue:1

    Topics: Animals; Carbon Isotopes; Galactose; Galactosemias; Magnetic Resonance Spectroscopy; Mice; Mice, Inbred BALB C; Tissue Distribution; UTP-Hexose-1-Phosphate Uridylyltransferase

2007
The endocrine system in treated patients with classical galactosemia.
    Molecular genetics and metabolism, 2006, Volume: 89, Issue:4

    Topics: Adolescent; Adult; Child; Child, Preschool; Diet, Reducing; Endocrine Glands; Female; Galactose; Galactosemias; Glycine max; Hormones; Humans; Male

2006
The unfolded protein response in lens epithelial cells from galactosemic rat lenses.
    Investigative ophthalmology & visual science, 2006, Volume: 47, Issue:9

    Topics: Activating Transcription Factor 4; Animals; Apoptosis; Caspases; Cataract; Cells, Cultured; Crystallins; Endoplasmic Reticulum; Endoplasmic Reticulum Chaperone BiP; Epithelial Cells; Female; Galactose; Galactosemias; Glutathione; Heat-Shock Proteins; Hyperglycemia; Hypoglycemia; Immunoblotting; In Situ Nick-End Labeling; Lens, Crystalline; Molecular Chaperones; Oxidative Stress; Protein Denaturation; Rats; Rats, Sprague-Dawley; Reactive Oxygen Species; Transcription Factor CHOP

2006
Two familial cases of high blood galactose of unknown aetiology.
    Journal of inherited metabolic disease, 2006, Volume: 29, Issue:6

    Topics: Carbohydrate Metabolism, Inborn Errors; Cell Membrane; Chromosomes, Human, X; Family Health; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Lactose; Male

2006
Development of a new diagnostic method for galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection.
    Journal of chromatography. A, 2007, Jan-26, Volume: 1140, Issue:1-2

    Topics: Blood Glucose; Blood Specimen Collection; Chromatography, Ion Exchange; Electrochemistry; Galactose; Galactosemias; Humans; Infant, Newborn; Reference Values; Reproducibility of Results; UDPglucose-Hexose-1-Phosphate Uridylyltransferase

2007
Inhibition of caspase-1/interleukin-1beta signaling prevents degeneration of retinal capillaries in diabetes and galactosemia.
    Diabetes, 2007, Volume: 56, Issue:1

    Topics: Animals; Capillaries; Caspase 1; Caspase 3; Caspase Inhibitors; Diabetes Mellitus, Experimental; Diabetic Retinopathy; Galactose; Galactosemias; Glucose; Interleukin-1beta; Male; Mice; Mice, Inbred C57BL; Minocycline; Models, Animal; Retinal Degeneration; Retinal Vessels; Signal Transduction; Tetracycline

2007
Age-dependent retinal capillary pericyte degeneration in galactose-fed dogs.
    Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics, 2007, Volume: 23, Issue:1

    Topics: Aging; Animals; Capillaries; Dietary Carbohydrates; Dogs; Galactose; Galactosemias; Lens, Crystalline; Male; NADH, NADPH Oxidoreductases; NADP; Pericytes; Retinal Degeneration; Retinal Vessels

2007
Effect of processing on galactose in selected fruits.
    Canadian journal of dietetic practice and research : a publication of Dietitians of Canada = Revue canadienne de la pratique et de la recherche en dietetique : une publication des Dietetistes du Canada, 2007,Spring, Volume: 68, Issue:1

    Topics: Adolescent; Child; Female; Food Handling; Fruit; Galactose; Galactosemias; Humans; Male

2007
Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia.
    European journal of pediatrics, 2008, Volume: 167, Issue:5

    Topics: Female; Follow-Up Studies; Galactose; Galactosemias; Galactosephosphates; Humans; Infant Formula; Infant, Newborn; Male

2008
The effect of diet on Paraoxonase 1/Arylesterase activities in patients with disorders of galactose metabolism.
    Clinical endocrinology, 2007, Volume: 67, Issue:5

    Topics: Antioxidants; Apolipoprotein A-I; Aryldialkylphosphatase; Carboxylic Ester Hydrolases; Case-Control Studies; Child; Diet; Follow-Up Studies; Galactose; Galactosemias; Galactosephosphates; Humans; Lipids; Lipoproteins; Spectrophotometry

2007
Cellular osmolytes reduce lens epithelial cell death and alleviate cataract formation in galactosemic rats.
    Molecular vision, 2007, Aug-10, Volume: 13

    Topics: Animals; Body Weight; Cataract; Cell Death; Cell Survival; Cells, Cultured; Disease Models, Animal; Endoplasmic Reticulum; Epithelial Cells; Galactose; Galactosemias; Humans; Lens, Crystalline; Methylamines; Phenylbutyrates; Protein Folding; Rats; Rats, Sprague-Dawley; Sodium Selenite; Taurochenodeoxycholic Acid; Tunicamycin; Up-Regulation

2007
Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air.
    Pediatric research, 2007, Volume: 62, Issue:6

    Topics: Breath Tests; Carbon Dioxide; Carbon Isotopes; Child; Child, Preschool; Exhalation; Feasibility Studies; Female; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Male; Neonatal Screening; Oxidation-Reduction; Pilot Projects; Reproducibility of Results; Time Factors; UDPglucose-Hexose-1-Phosphate Uridylyltransferase

2007
Galactose studies in an infant with idiopathic galactose intolerance.
    Pediatrics, 1948, Volume: 2, Issue:6

    Topics: Galactose; Galactosemias; Humans

1948
A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family.
    Journal of inherited metabolic disease, 2008, Volume: 31, Issue:1

    Topics: Alleles; Case-Control Studies; Cells, Cultured; Chromosome Segregation; Family; Galactose; Galactosemias; Gene Expression Regulation, Fungal; Genetic Heterogeneity; Humans; Lymphocytes; Models, Biological; Mutation, Missense; Pedigree; Severity of Illness Index; Transfection; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Yeasts

2008
Diagnosis of inherited disorders of galactose metabolism.
    Current protocols in human genetics, 2008, Volume: Chapter 17

    Topics: Carbohydrate Metabolism, Inborn Errors; DNA Mutational Analysis; DNA Primers; Galactitol; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Genetics, Medical; Humans; Infant, Newborn; Neonatal Screening; Polymerase Chain Reaction; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

2008
Effects of experimental galactosemia on the measured serotonin receptor activity of rat brain.
    Biochemistry, 1967, Volume: 6, Issue:6

    Topics: Animals; Brain Chemistry; Chromatography; Chromatography, Thin Layer; Female; Galactose; Galactosemias; Gangliosides; Glucose; Glycolipids; Hexosamines; Humans; Intellectual Disability; Rats; Serotonin; Stomach

1967
Polyol accumulations in nervous tissue of rats with experimental diabetes and galactosaemia.
    Journal of neurochemistry, 1967, Volume: 14, Issue:11

    Topics: Animals; Blood Glucose; Brain; Chromatography, Gas; Diabetes Mellitus, Experimental; Female; Fluorometry; Fructose; Galactose; Galactosemias; Glucose; Insulin; Rats; Sciatic Nerve; Sorbitol; Spinal Cord

1967
Cataracts and galactose metabolism.
    Transactions of the American Ophthalmological Society, 1967, Volume: 65

    Topics: Age Factors; Animals; Body Weight; Carbohydrate Metabolism; Cataract; Diet; Galactose; Galactosemias; Genes, Recessive; Humans; Metabolism, Inborn Errors; Rats; Retina; Time Factors; Transferases

1967
[Galactose loading test in infants and small children suffering in recurrent bronchitis and other chronic illness (author's transl)].
    Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1981, Volume: 129, Issue:8

    Topics: Bronchitis; Child; Child, Preschool; Diarrhea; Eclampsia; Female; Galactokinase; Galactose; Galactosemias; Heterozygote; Humans; Infant; Intellectual Disability; Male; Pregnancy; Recurrence; Respiratory Tract Infections

1981
Simple urinary test for lactose malabsorption.
    Lancet (London, England), 1982, Sep-04, Volume: 2, Issue:8297

    Topics: Adult; Diagnosis, Differential; Female; Galactose; Galactosemias; Humans; Lactose Intolerance; Male; Reagent Strips

1982
Clouds over galactosemia.
    Lancet (London, England), 1983, Jan-22, Volume: 1, Issue:8317

    Topics: Female; Galactose; Galactosemias; Humans; Maternal-Fetal Exchange; Pregnancy; Prognosis

1983
Galactose-specific elimination of human asialotransferrin by the bone marrow in the rabbit.
    Archives of biochemistry and biophysics, 1980, Volume: 205, Issue:1

    Topics: alpha-Fetoproteins; Animals; Asialoglycoproteins; Bone Marrow; Fetuins; Galactose; Galactosemias; Glycoproteins; Humans; Liver; Male; Orosomucoid; Rabbits; Transferrin

1980
[Ovarian insufficiency in congenital galactosemia].
    Presse medicale (Paris, France : 1983), 1984, Dec-08, Volume: 13, Issue:44

    Topics: Adolescent; Child, Preschool; Female; Galactose; Galactosemias; Humans; Hypogonadism; Ovarian Diseases

1984
Cataracts related to enzymes of galactose metabolism.
    Metabolic and pediatric ophthalmology, 1981, Volume: 5, Issue:3-4

    Topics: Aged; Cataract; Female; Galactokinase; Galactose; Galactosemias; Heterozygote; HLA Antigens; Humans; Male; Nucleotidyltransferases; Pedigree; UTP-Hexose-1-Phosphate Uridylyltransferase

1981
Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation.
    Journal of inherited metabolic disease, 1983, Volume: 6, Issue:1

    Topics: Biotransformation; Carbohydrate Epimerases; Dietary Carbohydrates; Erythrocytes; Female; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Infant, Newborn; UDPglucose 4-Epimerase; Uridine Diphosphate Galactose

1983
Heterogeneity of sugar composition of factor VIII/von Willebrand factor in von Willebrand's disease: analysis by crossed affinoimmunoelectrophoresis using lectin (ricinus communis agglutinin-120).
    Thrombosis and haemostasis, 1983, Apr-28, Volume: 49, Issue:2

    Topics: Blood Coagulation Factors; Carbohydrates; Factor VIII; Galactose; Galactosemias; Humans; Immunoelectrophoresis, Two-Dimensional; Lectins; Plant Lectins; von Willebrand Diseases; von Willebrand Factor

1983
Blood-brain transfer of galactose in experimental galactosemia, with special reference to the competitive interaction between galactose and glucose.
    Journal of neurochemistry, 1984, Volume: 43, Issue:6

    Topics: Animals; Binding, Competitive; Biological Transport; Blood Glucose; Blood-Brain Barrier; Cell Membrane Permeability; Galactose; Galactosemias; Glucose; Male; Rats; Rats, Inbred Strains

1984
[Results of the treatment of children with galactosemia].
    Pediatria polska, 1984, Volume: 59, Issue:11

    Topics: Adolescent; Adult; Child; Child, Preschool; Female; Follow-Up Studies; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Male; Psychomotor Performance; Time Factors

1984
Metabolic effects produced in baboons associated with the ingestion of diets based on lactose hydrolysate.
    Annals of nutrition & metabolism, 1982, Volume: 26, Issue:6

    Topics: Animals; Blood Glucose; Body Weight; Dietary Carbohydrates; Female; Galactose; Galactosemias; Glucose; Hydrolysis; Insulin; Lactose; Lipids; Male; Papio; Sucrose

1982
Estimates and implications of co-operativity for enzyme kinetics in the intact liver: method of flow invariants.
    Journal of theoretical biology, 1983, Jan-07, Volume: 100, Issue:1

    Topics: Animals; Galactose; Galactosemias; Kinetics; Liver; Liver Circulation; Models, Biological; Perfusion; Rats

1983
Potential role of galactokinase in neonatal carbohydrate assimilation.
    Science (New York, N.Y.), 1983, Apr-15, Volume: 220, Issue:4594

    Topics: Adult; Animals; Animals, Newborn; Carbohydrate Metabolism; Dogs; Galactokinase; Galactose; Galactosemias; Glucose; Humans; Infant, Newborn; Liver; Liver Glycogen; Phosphorylation; Rats

1983
Kinetic tests of models for sugar transport in human erythrocytes and a comparison of fresh and cold-stored cells.
    Biochimica et biophysica acta, 1983, Jan-19, Volume: 727, Issue:2

    Topics: 3-O-Methylglucose; Biological Transport, Active; Blood Glucose; Blood Specimen Collection; Cold Temperature; Erythrocyte Membrane; Erythrocytes; Galactose; Galactosemias; Humans; Kinetics; Methylglucosides

1983
[A mass screening procedure for galactosemia utilizing E. coli Q396 and Bacteriophage U3. (2) Study on the specificity for galactose (author's transl)].
    Rinsho byori. The Japanese journal of clinical pathology, 1980, Volume: 28, Issue:2

    Topics: Bacteriophages; Biological Assay; Escherichia coli; Galactose; Galactosemias; Humans; Substrate Specificity

1980
[Infusion of glucose and galactose in newborns of diabetic and nondiabetic mothers and the effect on metabolism and insulin levels].
    Ceskoslovenska pediatrie, 1980, Volume: 35, Issue:12

    Topics: Blood Glucose; Female; Galactose; Galactosemias; Glucose; Humans; Infant, Newborn; Infusions, Parenteral; Insulin; Lactates; Pregnancy; Pregnancy in Diabetics

1980
[Half-life of galactose in the blood plasma of lambs and sheep and the effect on various blood components after an i.v. galactose solution infusion].
    Archiv fur experimentelle Veterinarmedizin, 1980, Volume: 34, Issue:2

    Topics: Animals; Blood Glucose; Fructose; Galactose; Galactosemias; Half-Life; Infusions, Parenteral; Insulin; Lactates; Pyruvates; Sheep; Time Factors

1980
Galactose and galactose-1-phosphate spot test for galactosemia screening.
    Clinica chimica acta; international journal of clinical chemistry, 1981, Mar-19, Volume: 111, Issue:1

    Topics: Escherichia coli; Fluorescence; Galactose; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; NAD

1981
A new method of screening for inherited disorders of galactose metabolism.
    The Journal of laboratory and clinical medicine, 1982, Volume: 99, Issue:6

    Topics: Bacteriophages; Escherichia coli; Galactose; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Infant, Newborn; Mass Screening; Microbiological Techniques; Mutation

1982
Serum galactose levels in lactose-intolerant persons receiving a galactose:glucose mixture.
    Human nutrition. Clinical nutrition, 1982, Volume: 36, Issue:2

    Topics: Blood Glucose; Female; Galactose; Galactosemias; Glucose; Humans; Insulin; Lactose Intolerance; Male

1982
Galactose intolerance in individuals with double heterozygosity for Duarte variant and galactosemia.
    The Journal of pediatrics, 1982, Volume: 100, Issue:5

    Topics: Blood Glucose; Child; Child, Preschool; Erythrocytes; Galactose; Galactosemias; Galactosephosphates; Genes; Heterozygote; Humans; Infant; Prospective Studies; UTP-Hexose-1-Phosphate Uridylyltransferase

1982
Galactosylated albumin in galactosemia.
    The New England journal of medicine, 1982, Jun-10, Volume: 306, Issue:23

    Topics: Animals; Galactose; Galactosemias; Glycated Serum Albumin; Glycation End Products, Advanced; Humans; Infant; Infant, Newborn; Jaundice, Neonatal; Rats; Serum Albumin

1982
[Intestinal absorption of glucose and galactose in the rat determined by blood hexose].
    International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition, 1982, Volume: 52, Issue:1

    Topics: Animals; Blood Glucose; Female; Galactose; Galactosemias; Glucose; Hexoses; Hyperglycemia; Intestinal Absorption; Male; Rats; Rats, Inbred Strains

1982
Effect of sodium concentration and plasma sugar concentration on hexose absorption by the rat jejunum in vivo. Further evidence of two transport mechanisms.
    Pflugers Archiv : European journal of physiology, 1982, Volume: 393, Issue:1

    Topics: Absorption; Animals; Biological Transport; Biomechanical Phenomena; Blood Glucose; Galactose; Galactosemias; Hexoses; Jejunum; Kinetics; Male; Phlorhizin; Rats; Rats, Inbred Strains; Sodium

1982
Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia.
    The Tohoku journal of experimental medicine, 1982, Volume: 137, Issue:3

    Topics: Alkaline Phosphatase; Galactose; Galactose Dehydrogenases; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Infant; Methods

1982
Elevated hemoglobin A1 in streptozotocin diabetic rats and in rats on sucrose and galactose-enriched diets.
    Clinical biochemistry, 1982, Volume: 15, Issue:3

    Topics: Animals; Blood Glucose; Diabetes Mellitus, Experimental; Dietary Carbohydrates; Disease Models, Animal; Female; Galactose; Galactosemias; Hemoglobin A; Male; Rats; Rats, Inbred Strains; Sucrose

1982
First-order clearance of plasma galactose: the effect of liver disease.
    Gastroenterology, 1982, Volume: 83, Issue:5

    Topics: Erythrocytes; Galactose; Galactosemias; Hepatitis; Humans; Kidney; Kinetics; Liver; Liver Circulation; Liver Cirrhosis

1982
[Biochemical mechanisms of the development of hereditary galactosemia in W/SSM strain rats].
    Genetika, 1982, Volume: 18, Issue:3

    Topics: Animals; Erythrocytes; Galactokinase; Galactose; Galactosemias; Hybridization, Genetic; Liver; Rats; Rats, Inbred Strains; UTP-Hexose-1-Phosphate Uridylyltransferase

1982
[Correction of the symptoms of hereditary galactosemia in W/SSM strain rats by enzymatic imprinting].
    Genetika, 1982, Volume: 18, Issue:3

    Topics: Animals; Animals, Newborn; Enzyme Induction; Erythrocytes; Galactose; Galactosemias; Imprinting, Psychological; Liver; Rats; Rats, Inbred Strains; UTP-Hexose-1-Phosphate Uridylyltransferase

1982
A simple method of cannulating the portal vein and obtaining multiple blood samples in the rat.
    Experientia, 1981, Volume: 37, Issue:9

    Topics: Animals; Blood Specimen Collection; Catheterization; Galactose; Galactosemias; Infusions, Parenteral; Portal Vein; Rats

1981
Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.
    Archives of disease in childhood, 1981, Volume: 56, Issue:11

    Topics: Carbohydrate Epimerases; Erythrocytes; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Male; UDPglucose 4-Epimerase

1981
Microdetermination of galactose and galactose 1-phosphate in dried blood spots.
    Analytical biochemistry, 1981, Volume: 117, Issue:1

    Topics: Adult; Autoanalysis; Drug Stability; Galactose; Galactosemias; Galactosephosphates; Hemoglobins; Hexosephosphates; Humans; Infant, Newborn; Microchemistry; Protein Denaturation; Substrate Specificity

1981
Continuous-flow fluorometry of low galactose concentrations in blood or plasma.
    Clinical chemistry, 1980, Volume: 26, Issue:2

    Topics: Anticoagulants; Fluorometry; Galactose; Galactosemias; Humans; Liver; Liver Cirrhosis; Regional Blood Flow; Specimen Handling

1980
Evaluation of an immobilized-enzyme analyzer for measuring galactose in serum.
    Clinical chemistry, 1980, Volume: 26, Issue:2

    Topics: Enzymes, Immobilized; Galactose; Galactose Oxidase; Galactosemias; Humans; Infant, Newborn

1980
Functioning liver mass in uncomplicated and fulminant acute hepatitis.
    Scandinavian journal of gastroenterology, 1980, Volume: 15, Issue:1

    Topics: Acute Disease; Adolescent; Adult; Aged; Alanine Transaminase; Antipyrine; Bilirubin; Chemical and Drug Induced Liver Injury; Female; Galactose; Galactosemias; Hepatitis, Viral, Human; Humans; Liver Function Tests; Male; Middle Aged; Prognosis

1980
[Blood clearance of galactose: its clinical interest].
    Revista espanola de las enfermedades del aparato digestivo, 1980, Volume: 57, Issue:3

    Topics: Galactose; Galactosemias; Humans; Liver Cirrhosis

1980
Effects of anesthetic alcohols on membrane transport processes in human erythrocytes.
    Biochimica et biophysica acta, 1980, Aug-14, Volume: 600, Issue:3

    Topics: Alcohols; Anesthetics; Biological Transport; Diffusion; Erythritol; Erythrocyte Membrane; Erythrocytes; Galactose; Galactosemias; Humans; Kinetics; Membrane Fluidity; Potassium; Sodium; Spectrometry, Fluorescence; Structure-Activity Relationship; Uridine

1980
[The diagnosis of galactosemia: screening or clinical diagnosis?].
    Nederlands tijdschrift voor geneeskunde, 1980, Jul-26, Volume: 124, Issue:30

    Topics: Female; Galactokinase; Galactose; Galactosemias; Humans; Infant, Newborn; Pregnancy; Racemases and Epimerases; Uridine Diphosphate Galactose; UTP-Hexose-1-Phosphate Uridylyltransferase

1980
Role of nonenzymatic glycosylation in experimental cataract formation.
    Biochemical and biophysical research communications, 1980, Jul-31, Volume: 95, Issue:2

    Topics: Animals; Cataract; Disease Models, Animal; Galactose; Galactosemias; Glycoproteins; Imidazoles; Imidazolidines; Lens, Crystalline; Proteins; Rats

1980
[Correction of the symptoms of hereditary diseases by means of enzymatic imprinting].
    Doklady Akademii nauk SSSR, 1980, Volume: 253, Issue:6

    Topics: Animals; Aryl Hydrocarbon Hydroxylases; Cholesterol 7-alpha-Hydroxylase; Enzyme Induction; Galactose; Galactosemias; Hyperlipoproteinemia Type II; Mice; Mice, Inbred Strains; Pregnenolone; Rats; Rats, Inbred Strains; UTP-Hexose-1-Phosphate Uridylyltransferase

1980
Acridine orange differential staining of total DNA and RNA in normal and galactosemic lens epithelial cells in culture using flow cytometry.
    Current eye research, 1995, Volume: 14, Issue:4

    Topics: Acridine Orange; Animals; Cattle; Cell Cycle; Cells, Cultured; DNA; Epithelium; Flow Cytometry; Galactose; Galactosemias; Glucose; Lens, Crystalline; Mitosis; RNA; Staining and Labeling

1995
Effect of glucose and galactose loading in normal subjects on red and white blood cell uridine diphosphate sugars.
    Biochemical and molecular medicine, 1995, Volume: 55, Issue:1

    Topics: Administration, Oral; Adult; Blood Glucose; Dietary Carbohydrates; Erythrocytes; Female; Galactose; Galactosemias; Galactosephosphates; Glucose; Glycosuria; Humans; Leukocytes; Male; Middle Aged; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose

1995
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia.
    Lancet (London, England), 1995, Oct-21, Volume: 346, Issue:8982

    Topics: Adult; Female; Galactose; Galactosemias; Humans; Male

1995
Assessment of mammary gland metabolism in the sow. II. Cellular metabolites in the mammary secretion and plasma during lactogenesis II.
    The Journal of dairy research, 1995, Volume: 62, Issue:2

    Topics: Animals; Blood Glucose; Female; Fructose; Galactose; Galactosemias; Glucose; Glucosephosphates; Kinetics; Lactation; Lactose; Mammary Glands, Animal; Milk; Nucleotides; Phosphates; Swine

1995
Assessment of mammary gland metabolism in the sow. III. Cellular metabolites in the mammary secretion and plasma following weaning.
    The Journal of dairy research, 1995, Volume: 62, Issue:2

    Topics: Animals; Blood Glucose; Female; Galactose; Galactosemias; Glucose; Glucosephosphates; Kinetics; Lactose; Mammary Glands, Animal; Milk; Nucleotides; Phosphates; Swine; Weaning

1995
Endothelial changes in galactose-fed dogs.
    Current eye research, 1995, Volume: 14, Issue:4

    Topics: Animals; Cell Count; Cell Size; Diet; Dogs; Endothelium, Corneal; Galactitol; Galactose; Galactosemias; Male

1995
Novel galactose single point method as a measure of residual liver function: example of cefoperazone kinetics in patients with liver cirrhosis.
    Journal of clinical pharmacology, 1995, Volume: 35, Issue:3

    Topics: Adult; Cefoperazone; Chromatography, High Pressure Liquid; Galactose; Galactosemias; Half-Life; Humans; Liver Cirrhosis; Liver Function Tests; Male; Metabolic Clearance Rate

1995
Diabetic retinopathy: galactose-fed rat model.
    Investigative ophthalmology & visual science, 1995, Volume: 36, Issue:9

    Topics: Animals; Diabetes Mellitus, Experimental; Diabetic Retinopathy; Disease Models, Animal; Galactose; Galactosemias; Rats; Retina

1995
Galactitol in galactosemia.
    European journal of pediatrics, 1995, Volume: 154, Issue:7 Suppl 2

    Topics: Age Factors; Galactitol; Galactose; Galactosemias; Humans; Infant

1995
Galactosemia: clinical and pathologic features, tissue staining patterns with labeled galactose- and galactosamine-binding lectins, and possible loci of nonenzymatic galactosylation.
    Perspectives in pediatric pathology, 1993, Volume: 17

    Topics: Child; Chromosome Mapping; Female; Galactosamine; Galactose; Galactosemias; Glycosyltransferases; Humans; Infant; Infant, Newborn; Lectins; Staining and Labeling

1993
Demonstration that polyol accumulation is responsible for diabetic cataract by the use of transgenic mice expressing the aldose reductase gene in the lens.
    Proceedings of the National Academy of Sciences of the United States of America, 1995, Mar-28, Volume: 92, Issue:7

    Topics: Aldehyde Reductase; Animals; Blotting, Southern; Cataract; Crosses, Genetic; Diabetes Mellitus, Experimental; Diabetic Retinopathy; DNA, Complementary; Female; Galactitol; Galactose; Galactosemias; Genotype; Humans; Lens, Crystalline; Male; Mice; Mice, Inbred BALB C; Mice, Transgenic; Polymerase Chain Reaction

1995
Comparison of retinal lesions in alloxan-diabetic rats and galactose-fed rats.
    Current eye research, 1994, Volume: 13, Issue:12

    Topics: Alloxan; Animals; Basement Membrane; Capillaries; Diabetes Mellitus, Experimental; Diabetic Retinopathy; Galactose; Galactosemias; Glycated Hemoglobin; Hyperglycemia; Male; Rats; Rats, Sprague-Dawley; Retinal Vessels

1994
Galactose biosensors using composite polymers to prevent interferences.
    Biosensors & bioelectronics, 1995, Volume: 10, Issue:3-4

    Topics: Biosensing Techniques; Galactose; Galactosemias; Humans; Polymers

1995
Galactosemia produces ARI-preventable nodal changes similar to those of diabetic neuropathy.
    Diabetes research and clinical practice, 1994, Volume: 25, Issue:2

    Topics: Aldehyde Reductase; Animals; Axons; Body Weight; Diabetic Neuropathies; Fructose; Galactitol; Galactose; Galactosemias; Inositol; Microscopy, Electron; Nerve Fibers, Myelinated; Nerve Regeneration; Neural Conduction; Rats; Rats, Sprague-Dawley; Sciatic Nerve; Sorbitol; Sural Nerve

1994
Galactose-induced retinal microangiopathy in rats.
    Investigative ophthalmology & visual science, 1995, Volume: 36, Issue:2

    Topics: Aldehyde Reductase; Animals; Basement Membrane; Capillaries; Cataract; Diabetic Retinopathy; Disease Models, Animal; Erythrocytes; Galactitol; Galactose; Galactosemias; Imidazoles; Imidazolidines; Male; Rats; Rats, Sprague-Dawley; Retina; Retinal Vessels; Sciatic Nerve

1995
The galactosemic dog. A valid model for both early and late stages of diabetic retinopathy.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1995, Volume: 113, Issue:3

    Topics: Animals; Diabetic Retinopathy; Disease Models, Animal; Dogs; Galactose; Galactosemias; Optic Disk; Retinal Neovascularization; Sorbitol

1995
Retinopathy in galactosemic dogs continues to progress after cessation of galactosemia.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1995, Volume: 113, Issue:3

    Topics: Animals; Blood Chemical Analysis; Diabetes Mellitus, Experimental; Diabetic Retinopathy; Disease Models, Animal; Disease Progression; Dogs; Galactose; Galactosemias; Hyperglycemia; Retinal Vessels

1995
Low efficiency of [14C]galactose incorporation by galactosemic skin fibroblasts: relationship with neurological sequelae.
    Biochemical medicine and metabolic biology, 1994, Volume: 52, Issue:2

    Topics: Adolescent; Cells, Cultured; Child; Fibroblasts; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Leucine; Nervous System Diseases; Phenotype; Skin; UTP-Hexose-1-Phosphate Uridylyltransferase

1994
Characterization of the mechanism for the chronic activation of diacylglycerol-protein kinase C pathway in diabetes and hypergalactosemia.
    Diabetes, 1994, Volume: 43, Issue:9

    Topics: Animals; Aorta; Arachidonic Acid; Cell Membrane; Cells, Cultured; Cytosol; Diabetes Mellitus, Experimental; Diglycerides; Dogs; Endothelium, Vascular; Female; Galactose; Galactosemias; Glucose; Kinetics; Male; Muscle, Smooth, Vascular; Palmitic Acid; Palmitic Acids; Phosphatidylcholines; Protein Kinase C; Random Allocation; Rats; Rats, Sprague-Dawley; Reference Values; Retina; Tritium

1994
Impaired hexose uptake by diploid skin fibroblasts from galactosaemic patients. Connection with cell growth and amino acid metabolism, and possible bearing on late-onset clinical symptoms.
    Journal of inherited metabolic disease, 1993, Volume: 16, Issue:1

    Topics: Adolescent; Amino Acids; Blood Glucose; Carbohydrate Metabolism, Inborn Errors; Cell Division; Cells, Cultured; Child; Child, Preschool; Diploidy; Fibroblasts; Galactose; Galactosemias; Glucose; Glutamate-Ammonia Ligase; Hexoses; Humans; Infant; Infant, Newborn; Lactates; Skin

1993
Suppression of pentosidine formation in galactosemic rat lens by an inhibitor of aldose reductase.
    Diabetes, 1994, Volume: 43, Issue:4

    Topics: Aldehyde Reductase; Animals; Arginine; Ascorbic Acid; Diet; Female; Galactitol; Galactose; Galactosemias; Glutathione; Imidazoles; Imidazolidines; Lens, Crystalline; Lysine; Maillard Reaction; Rats; Rats, Sprague-Dawley; Time Factors

1994
Proliferative changes of lens epithelial cells in rat and mouse galactose cataracts--examination using whole-mount preparations.
    Japanese journal of ophthalmology, 1993, Volume: 37, Issue:1

    Topics: Animals; Autoradiography; Cataract; Cell Division; Dietary Carbohydrates; Disease Models, Animal; Epithelium; Galactose; Galactosemias; Lens, Crystalline; Male; Mice; Mice, Inbred ICR; Rats; Rats, Sprague-Dawley; Thymidine

1993
Effect of pregnancy on development of galactose-induced cataract in rat.
    Japanese journal of ophthalmology, 1993, Volume: 37, Issue:1

    Topics: Animals; Cataract; Dietary Carbohydrates; Female; Galactitol; Galactose; Galactosemias; Incidence; Lens, Crystalline; Male; Pregnancy; Pregnancy, Animal; Rats; Rats, Sprague-Dawley

1993
Effect of galactose regimen on glomerular heparan sulfate synthesis and albumin excretion in diabetic rats.
    Research communications in chemical pathology and pharmacology, 1993, Volume: 80, Issue:2

    Topics: Albuminuria; Animals; Blood Glucose; Diabetes Mellitus, Experimental; Diet; Galactose; Galactosemias; Heparitin Sulfate; Kidney Glomerulus; Male; Rats; Rats, Sprague-Dawley; Streptozocin

1993
Differences on treating children with galactosemia.
    Journal of the American Dietetic Association, 1993, Volume: 93, Issue:10

    Topics: Galactose; Galactosemias; Humans; Infant; Infant Food; Infant, Newborn

1993
Galactose content of selected fruit and vegetable baby foods: implications for infants on galactose-restricted diets.
    Journal of the American Dietetic Association, 1993, Volume: 93, Issue:3

    Topics: Fruit; Galactose; Galactosemias; Humans; Infant; Infant Food; Vegetables

1993
Current controversies about galactosemia.
    Clinical biochemistry, 1993, Volume: 26, Issue:2

    Topics: Adult; Child; Child, Preschool; Galactose; Galactosemias; Humans; Immunoenzyme Techniques; Uridine; Uridine Diphosphate Galactose; UTP-Hexose-1-Phosphate Uridylyltransferase

1993
The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency.
    Journal of inherited metabolic disease, 1993, Volume: 16, Issue:1

    Topics: Adolescent; Adult; Diet; Erythrocytes; Female; Fruit; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; UTP-Hexose-1-Phosphate Uridylyltransferase; Vegetables

1993
Galactosemic neuropathy in transgenic mice for human aldose reductase.
    Diabetes, 1996, Volume: 45, Issue:1

    Topics: Aldehyde Reductase; Animals; Base Sequence; DNA Primers; Female; Galactitol; Galactose; Galactosemias; Gene Expression Regulation, Enzymologic; Mice; Mice, Transgenic; Molecular Sequence Data; Neural Conduction; Peripheral Nervous System Diseases; Sciatic Nerve

1996
Magnetic resonance imaging of the galactosemic dog eye using magnetization transfer contrast.
    Current eye research, 1995, Volume: 14, Issue:11

    Topics: Animals; Cataract; Disease Models, Animal; Dogs; Galactose; Galactosemias; Lens, Crystalline; Magnetic Resonance Imaging; Male; Severity of Illness Index

1995
The galactose elimination capacity test: a study of the technique based on the analysis of 868 measurements.
    The American journal of gastroenterology, 1996, Volume: 91, Issue:5

    Topics: Adolescent; Adult; Aged; Galactose; Galactosemias; Humans; Liver Function Tests; Middle Aged; Osmolar Concentration; Regression Analysis; Retrospective Studies; Time Factors

1996
Liquefaction of cortical tissue in diabetic and galactosemic rat lenses defined by confocal laser scanning microscopy.
    Investigative ophthalmology & visual science, 1996, Volume: 37, Issue:8

    Topics: Animals; Cataract; Cell Membrane; Diabetes Mellitus, Experimental; Female; Galactose; Galactosemias; Lens Cortex, Crystalline; Microscopy, Confocal; Microtomy; Rats; Rats, Wistar; Streptozocin

1996
Update: newborn screening for galactosemia.
    The Journal of the Arkansas Medical Society, 1996, Volume: 92, Issue:11

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Neonatal Screening; Reference Values

1996
A mouse model of diabetic retinopathy.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1996, Volume: 114, Issue:8

    Topics: Aneurysm; Animals; Diabetic Retinopathy; Disease Models, Animal; Galactose; Galactosemias; Male; Mice; Mice, Inbred BALB C; Mice, Inbred C57BL; Myocardium; Polymers; Retina; Retinal Artery; Sciatic Nerve

1996
Early biosynthetic changes in the diabetic-like retinopathy of galactose-fed rats.
    Diabetologia, 1996, Volume: 39, Issue:6

    Topics: Actins; Animal Feed; Animals; Collagen; Densitometry; Diabetic Retinopathy; Disease Models, Animal; DNA Primers; Fibronectins; Galactose; Galactosemias; Gene Expression; Male; Molecular Sequence Data; Polymerase Chain Reaction; Rats; Rats, Sprague-Dawley; Reference Standards; Retina; RNA, Messenger

1996
Quantitation of galactosemic cataracts in dogs using magnetization transfer contrast-enhanced magnetic resonance imaging.
    Investigative ophthalmology & visual science, 1996, Volume: 37, Issue:11

    Topics: Animals; Cataract; Disease Progression; Dogs; Galactose; Galactosemias; Lens, Crystalline; Magnetic Resonance Imaging; Male; Severity of Illness Index

1996
Glycolytic pathway, redox state of NAD(P)-couples and energy metabolism in lens in galactose-fed rats: effect of an aldose reductase inhibitor.
    Current eye research, 1997, Volume: 16, Issue:1

    Topics: Aldehyde Reductase; Animals; Energy Metabolism; Enzyme Inhibitors; Galactitol; Galactose; Galactosemias; Gas Chromatography-Mass Spectrometry; Glycolysis; Inositol; Lens, Crystalline; Male; NADP; Naphthalenes; Oxidation-Reduction; Pyruvic Acid; Rats; Rats, Sprague-Dawley

1997
Application of immunoapheresis for delaying hyperacute rejection during isolated xenogeneic pig liver perfusion.
    Transplantation, 1997, Mar-27, Volume: 63, Issue:6

    Topics: Acute Disease; Ammonia; Animals; Antibodies, Heterophile; Blood Component Removal; Complement C3; Complement C4; Enzyme-Linked Immunosorbent Assay; Enzymes; Extracorporeal Circulation; Galactose; Galactosemias; Graft Rejection; Hepatic Encephalopathy; Humans; Immunoglobulin A; Immunoglobulin G; Immunoglobulin M; Lactates; Liver; Liver Function Tests; Perfusion; Sheep; Swine; Transplantation, Heterologous

1997
An aldose reductase inhibitor and aminoguanidine prevent vascular endothelial growth factor expression in rats with long-term galactosemia.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1997, Volume: 115, Issue:8

    Topics: Aldehyde Reductase; Animals; Cataract; Diabetic Retinopathy; Endothelial Growth Factors; Enzyme Inhibitors; Factor VIII; Female; Fluorescent Antibody Technique, Indirect; Galactose; Galactosemias; Glial Fibrillary Acidic Protein; Guanidines; Lymphokines; Rats; Rats, Sprague-Dawley; Retina; Retinal Vessels; Vascular Endothelial Growth Factor A; Vascular Endothelial Growth Factors; Vimentin

1997
Quantitative assessment of whole body galactose metabolism in galactosemic patients.
    European journal of pediatrics, 1997, Volume: 156 Suppl 1

    Topics: Adolescent; Adult; Breath Tests; Carbon Isotopes; Case-Control Studies; Child; Female; Galactose; Galactosemias; Humans; Male; Oxidation-Reduction; UTP-Hexose-1-Phosphate Uridylyltransferase

1997
Defective galactosylation of serum transferrin in galactosemia.
    Glycobiology, 1998, Volume: 8, Issue:4

    Topics: Carbohydrate Sequence; Chromatography, High Pressure Liquid; Dietary Carbohydrates; Erythrocytes; Galactose; Galactosemias; Galactosephosphates; Glycosylation; Humans; Molecular Sequence Data; Molecular Structure; Polysaccharides; Transferrin; UDPglucose-Hexose-1-Phosphate Uridylyltransferase

1998
Retinopathy and tissue hexose in drug-treated animals.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1998, Volume: 116, Issue:4

    Topics: Aldehyde Reductase; Animals; Diabetic Retinopathy; Endothelial Growth Factors; Enzyme Inhibitors; Galactose; Galactosemias; Glycated Hemoglobin; Guanidines; Lymphokines; Rats; Retina; Vascular Endothelial Growth Factor A; Vascular Endothelial Growth Factors

1998
Diabetic-like corneal sensitivity loss in galactose-fed rats ameliorated with aldose reductase inhibitors.
    Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics, 1998, Volume: 14, Issue:2

    Topics: Aldehyde Reductase; Animals; Blinking; Cataract; Cornea; Diabetes Mellitus, Experimental; Diet; Enzyme Inhibitors; Fluorenes; Galactose; Galactosemias; Hydantoins; Male; Physical Stimulation; Rats; Rats, Sprague-Dawley; Thiazoles; Thiazolidinediones

1998
Retinal vessel changes in galactose-fed dogs.
    Archives of ophthalmology (Chicago, Ill. : 1960), 1998, Volume: 116, Issue:6

    Topics: Animals; Aphakia; Capillary Permeability; Diabetic Retinopathy; Dietary Carbohydrates; Disease Models, Animal; Disease Progression; Dogs; Fluorescein Angiography; Fundus Oculi; Galactose; Galactosemias; Lens, Crystalline; Male; Retinal Hemorrhage; Retinal Vessels

1998
Elevated galactose in newborn screening due to congenital absence of the portal vein.
    European journal of pediatrics, 1998, Volume: 157, Issue:7

    Topics: Female; Galactose; Galactosemias; Humans; Infant, Newborn; Portal Vein; Portasystemic Shunt, Surgical

1998
Diabetic-like retinopathy: early and late intervention therapies in galactose-fed rats.
    Investigative ophthalmology & visual science, 1998, Volume: 39, Issue:10

    Topics: Aldehyde Reductase; Animals; Basement Membrane; Blood Glucose; Diabetic Retinopathy; Female; Galactose; Galactosemias; Glycated Hemoglobin; Random Allocation; Rats; Rats, Sprague-Dawley; Retinal Vessels

1998
Komrower Lecture. Galactosaemia today: the enigma and the challenge.
    Journal of inherited metabolic disease, 1998, Volume: 21, Issue:5

    Topics: Animals; Galactose; Galactosemias; Humans; UTP-Hexose-1-Phosphate Uridylyltransferase

1998
Decreases in Raf-1 levels in galactosaemic lens epithelial cells are partially reversed by myo-inositol.
    Acta diabetologica, 1998, Volume: 35, Issue:3

    Topics: Animals; Cattle; Cell Division; Cells, Cultured; DNA; Epithelial Cells; Galactose; Galactosemias; Inositol; Isoenzymes; Lens, Crystalline; Protein Kinase C; Protein Kinase C-alpha; Proto-Oncogene Proteins c-raf

1998
Effect of substance P, insulin-like growth factor-1 and vasoactive intestinal polypeptide on corneal re-epithelialization in galactosemic rats.
    Current eye research, 1998, Volume: 17, Issue:12

    Topics: Animals; Cornea; Debridement; Drug Therapy, Combination; Epithelium; Galactose; Galactosemias; Image Processing, Computer-Assisted; Insulin-Like Growth Factor I; Male; Ophthalmic Solutions; Rats; Rats, Sprague-Dawley; Regeneration; Substance P; Vasoactive Intestinal Peptide; Wound Healing

1998
Attenuation of galactose-induced cataract by pyruvate.
    Free radical research, 1999, Volume: 30, Issue:4

    Topics: Adenosine Triphosphate; Animals; Aqueous Humor; Cataract; Diet; Galactose; Galactosemias; Glycoproteins; Glycosylation; Lens, Crystalline; Male; Pyruvic Acid; Rats; Rats, Sprague-Dawley; Rubidium Radioisotopes

1999
Corneal transport of circulating glutathione in normal and galactosemic guinea pigs.
    Cornea, 1999, Volume: 18, Issue:3

    Topics: Aging; Animals; Biological Transport; Cornea; Dietary Carbohydrates; Female; Galactose; Galactosemias; Glutathione; Guinea Pigs; Male

1999
Homogeneous bioluminescence assay for galactosuria: interference and kinetic analysis.
    Analytical biochemistry, 1999, Jul-01, Volume: 271, Issue:2

    Topics: Adenosine Triphosphate; False Positive Reactions; Galactitol; Galactokinase; Galactose; Galactosemias; Humans; Kinetics; Luciferases; Luminescent Measurements; Sensitivity and Specificity; Sugar Acids

1999
Cataract development in 12-month-old rats fed a 25% galactose diet and its relation to osmotic stress and oxidative damage.
    Ophthalmic research, 1999, Volume: 31, Issue:5

    Topics: Animals; Body Water; Cataract; Cholesterol; Crystallins; Diet; Galactitol; Galactose; Galactosemias; Glutathione; Lens, Crystalline; Lipid Peroxides; Male; Osmotic Pressure; Oxidative Stress; Rats; Rats, Wistar; Vitamin E

1999
Subnormal retinal oxygenation response precedes diabetic-like retinopathy.
    Investigative ophthalmology & visual science, 1999, Volume: 40, Issue:9

    Topics: Animals; Blood Glucose; Carbon Dioxide; Diabetic Retinopathy; Fructose; Galactitol; Galactose; Galactosemias; Glucose; Inositol; Magnetic Resonance Imaging; Oxygen; Partial Pressure; Rats; Retina; Sorbitol

1999
Expression of human inositol monophosphatase suppresses galactose toxicity in Saccharomyces cerevisiae: possible implications in galactosemia.
    Biochimica et biophysica acta, 1999, Aug-30, Volume: 1454, Issue:3

    Topics: 5'-Nucleotidase; Escherichia coli; Galactokinase; Galactose; Galactosemias; Gene Expression Regulation; HeLa Cells; Humans; Phosphoric Monoester Hydrolases; Plasmids; Suppression, Genetic; UTP-Glucose-1-Phosphate Uridylyltransferase; UTP-Hexose-1-Phosphate Uridylyltransferase

1999
Urine screening of five-day-old newborns: metabolic profiling of neonatal galactosuria.
    Journal of chromatography. B, Biomedical sciences and applications, 1999, Sep-24, Volume: 732, Issue:2

    Topics: Galactose; Galactosemias; Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Mass Screening; Phenylpropionates

1999
Attenuation of sugar cataract by ethyl pyruvate.
    Molecular and cellular biochemistry, 1999, Volume: 200, Issue:1-2

    Topics: Adenosine Triphosphate; Animals; Aqueous Humor; Cataract; Crystallins; Dietary Sucrose; Galactitol; Galactose; Galactosemias; Glycosylation; Male; Ophthalmic Solutions; Pyruvates; Rats; Rats, Sprague-Dawley

1999
Diabetes-induced metabolic abnormalities in myocardium: effect of antioxidant therapy.
    Free radical research, 2000, Volume: 32, Issue:1

    Topics: Animals; Antioxidants; Body Weight; Cardiomyopathies; Diabetes Mellitus, Experimental; Eating; Galactose; Galactosemias; Hyperglycemia; Lipid Metabolism; Myocardium; Oxidative Stress; Rats; Rats, Sprague-Dawley; Thiobarbituric Acid Reactive Substances

2000
Delay of liver maturation as a cause of transient neonatal galactosemia.
    Pediatrics international : official journal of the Japan Pediatric Society, 2000, Volume: 42, Issue:1

    Topics: alpha-Fetoproteins; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Liver; Mass Screening

2000
Endothelins, their receptors, and retinal vascular dysfunction in galactose-fed rats.
    Diabetes research and clinical practice, 2000, Volume: 48, Issue:2

    Topics: Animals; Antihypertensive Agents; Blood Flow Velocity; Bosentan; Endothelin-1; Endothelin-3; Galactose; Galactosemias; Gene Expression Regulation; Male; Rats; Rats, Sprague-Dawley; Receptor, Endothelin A; Receptor, Endothelin B; Receptors, Endothelin; Regional Blood Flow; Retinal Vessels; RNA, Messenger; Sulfonamides; Time Factors; Transcription, Genetic; Ultrasonography, Doppler

2000
Free galactose content of fresh fruits and strained fruit and vegetable baby foods: more foods to consider for the galactose-restricted diet.
    Journal of the American Dietetic Association, 2000, Volume: 100, Issue:5

    Topics: Food Analysis; Food Handling; Food Preservation; Fruit; Galactose; Galactosemias; Humans; Infant; Infant Food; Infant, Newborn; Vegetables

2000
Functional and structural studies of alpha-crystallin from galactosemic rat lenses.
    Biochemical and biophysical research communications, 2000, Jun-24, Volume: 273, Issue:1

    Topics: Anilino Naphthalenesulfonates; Animals; Binding Sites; Cataract; Chromatography, High Pressure Liquid; Circular Dichroism; Crystallins; Dithiothreitol; Female; Galactose; Galactosemias; Insulin; Lens, Crystalline; Molecular Chaperones; Molecular Weight; Protein Binding; Protein Conformation; Protein Denaturation; Rats; Rats, Sprague-Dawley; Spectrometry, Fluorescence; Structure-Activity Relationship; Temperature; Time Factors

2000
Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency.
    Pediatric research, 2000, Volume: 48, Issue:2

    Topics: Animals; Brain; Carbon Dioxide; Carbon Isotopes; Carbon Radioisotopes; Erythrocytes; Galactose; Galactosemias; Gas Chromatography-Mass Spectrometry; Heterozygote; Homozygote; Humans; Kidney; Kinetics; Liver; Mice; UDPglucose-Hexose-1-Phosphate Uridylyltransferase

2000
Preventive effect of vitamin E-containing liposome instillation on cataract progression in 12-month-old rats fed a 25% galactose diet.
    Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics, 2000, Volume: 16, Issue:4

    Topics: 1,2-Dipalmitoylphosphatidylcholine; Animals; Body Water; Cataract; Cholesterol; Diet; Disease Progression; Drug Carriers; Galactitol; Galactose; Galactosemias; Glutathione; Lens, Crystalline; Lipid Peroxides; Liposomes; Male; Phosphatidylcholines; Rats; Rats, Wistar; Vitamin E

2000
Response of capillary cell death to aminoguanidine predicts the development of retinopathy: comparison of diabetes and galactosemia.
    Investigative ophthalmology & visual science, 2000, Volume: 41, Issue:12

    Topics: Animals; Apoptosis; Capillaries; Cell Survival; Diabetes Mellitus, Experimental; Diabetic Retinopathy; Endothelium, Vascular; Galactose; Galactosemias; Glycation End Products, Advanced; Guanidines; In Situ Nick-End Labeling; Male; Pericytes; Rats; Rats, Sprague-Dawley; Retinal Vessels

2000
Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening.
    European journal of pediatrics, 2000, Volume: 159, Issue:11

    Topics: Biliary Atresia; Erythrocyte Count; Galactose; Galactosemias; Heterozygote; Humans; Infant, Newborn; Liver Diseases; Mass Screening; Uridine Diphosphate Galactose

2000
Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry.
    Metabolism: clinical and experimental, 2000, Volume: 49, Issue:11

    Topics: Adolescent; Adult; Child; Child, Preschool; Galactitol; Galactose; Galactosemias; Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; UTP-Hexose-1-Phosphate Uridylyltransferase

2000
Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:7

    Topics: Amino Acid Substitution; Galactose; Galactosemias; Galactosephosphates; Gene Expression; Humans; Kinetics; Methionine; Saccharomyces cerevisiae; UDPglucose 4-Epimerase; Uridine Diphosphate N-Acetylgalactosamine; Valine

2000
[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report].
    Klinische Monatsblatter fur Augenheilkunde, 2001, Volume: 218, Issue:2

    Topics: Cataract; Child, Preschool; Galactose; Galactosemias; Genetic Predisposition to Disease; Heterozygote; Humans; Male; UDPglucose 4-Epimerase

2001
Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene.
    Molecular genetics and metabolism, 2001, Volume: 72, Issue:4

    Topics: Blotting, Southern; Breath Tests; Child, Preschool; DNA Primers; Female; Galactose; Galactosemias; Gene Deletion; Glucose; Humans; Lymphocyte Activation; Mass Spectrometry; Mutation; Oxidation-Reduction; Polymerase Chain Reaction; Reproducibility of Results; UTP-Hexose-1-Phosphate Uridylyltransferase

2001
Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia.
    Prenatal diagnosis, 2001, Volume: 21, Issue:4

    Topics: Amniotic Fluid; Chorionic Villi; Chorionic Villi Sampling; Diet; Female; Galactose; Galactosemias; Gestational Age; Humans; Pregnancy; Prenatal Diagnosis; UTP-Hexose-1-Phosphate Uridylyltransferase

2001
Synthesis and evaluation of novel aldose reductase inhibitors: Effects on lens protein kinase Cgamma.
    Molecular vision, 2001, Jul-18, Volume: 7

    Topics: Acetates; Aldehyde Reductase; Animals; Benzopyrans; Blotting, Western; Connexins; Diabetes Mellitus; Drug Evaluation, Preclinical; Enzyme Inhibitors; Epithelial Cells; Galactose; Galactosemias; Gap Junctions; Isoenzymes; Lens Cortex, Crystalline; Lens, Crystalline; Molecular Structure; Phosphorylation; Polymers; Protein Kinase C; Rabbits; Rats; Rats, Sprague-Dawley; Serine

2001
Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts.
    Journal of inherited metabolic disease, 2001, Volume: 24, Issue:4

    Topics: Adolescent; Adult; Carbon Dioxide; Carbon Radioisotopes; Cell Line, Transformed; Child; Child, Preschool; Galactose; Galactosemias; Glucose; Herpesvirus 4, Human; Homozygote; Humans; Kinetics; Lymphocytes; Mutation; Oxidation-Reduction; UTP-Hexose-1-Phosphate Uridylyltransferase

2001
Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemia.
    Journal of inherited metabolic disease, 2001, Volume: 24, Issue:4

    Topics: Bromocriptine; Diet; Female; Galactose; Galactosemias; Heterozygote; Humans; Lactose; Pregnancy; Pregnancy Complications

2001
Correction of early subnormal superior hemiretinal DeltaPO(2) predicts therapeutic efficacy in experimental diabetic retinopathy.
    Investigative ophthalmology & visual science, 2001, Volume: 42, Issue:12

    Topics: Aldehyde Reductase; Animals; Blood Glucose; Diabetes Mellitus, Experimental; Diabetic Retinopathy; Enzyme Inhibitors; Galactose; Galactosemias; Guanidines; Magnetic Resonance Imaging; Nitric Oxide Synthase; Oxygen; Oxygen Consumption; Partial Pressure; Rats; Retina; Risk Factors

2001
Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening.
    Journal of inherited metabolic disease, 2002, Volume: 25, Issue:1

    Topics: Citrullinemia; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Mass Screening; Membrane Transport Proteins; Mitochondrial Membrane Transport Proteins; Mitochondrial Proteins

2002
Effect of galactose diet removal on the progression of retinal vessel changes in galactose-fed dogs.
    Investigative ophthalmology & visual science, 2002, Volume: 43, Issue:6

    Topics: Animals; Capillaries; Diabetic Retinopathy; Diet; Disease Progression; Dogs; Endothelium, Vascular; Galactose; Galactosemias; Male; Pericytes; Retinal Vessels

2002
The effect of pH on incorporation of galactose by a normal human cell line and cell lines from patients with defective galactose metabolism.
    Journal of cellular physiology, 1976, Volume: 87, Issue:3

    Topics: Cell Line; Galactose; Galactosemias; Hydrogen-Ion Concentration; Kinetics

1976
A simple assay for galactokinase using DEAE-cellulose column chromatography.
    Clinica chimica acta; international journal of clinical chemistry, 1977, Jan-03, Volume: 74, Issue:1

    Topics: Adult; Child; Child, Preschool; Chromatography, DEAE-Cellulose; Chromatography, Thin Layer; Female; Galactose; Galactosemias; Heterozygote; Humans; Hydrogen-Ion Concentration; Infant; Kinetics; Magnesium; Phosphotransferases; Pregnancy; Reference Values

1977
Enzymes of galactose metabolism in human hair roots.
    The British journal of dermatology, 1977, Volume: 97, Issue:5

    Topics: Clinical Enzyme Tests; Galactose; Galactosemias; Hair; Humans; Hydrogen-Ion Concentration; Microchemistry; Nucleotidyltransferases; Phosphotransferases; Radiochemistry; Temperature; UTP-Hexose-1-Phosphate Uridylyltransferase

1977
[Study of the fucose-rich oligosaccharides in the urine of healthy and melituric subjects with A, B and O blood groups].
    Biochimie, 1976, Volume: 58, Issue:7

    Topics: ABO Blood-Group System; Chromatography; Chromatography, Paper; Diabetes Mellitus; Epitopes; Female; Fucose; Galactose; Galactosemias; Glycosuria; Humans; Lactose; Lewis Blood Group Antigens; Male; Molecular Weight; Oligosaccharides

1976
False-negative testing for galactosuria.
    Lancet (London, England), 1979, Mar-03, Volume: 1, Issue:8114

    Topics: Adult; Chromatography, Thin Layer; Evaluation Studies as Topic; False Negative Reactions; Galactose; Galactosemias; Glucose Oxidase; Humans; Infant; Infant, Newborn; Reagent Kits, Diagnostic

1979
Other carbohydrate intolerances.
    Current concepts in nutrition, 1979, Volume: 8

    Topics: beta-Galactosidase; Carbohydrate Metabolism, Inborn Errors; Dietary Carbohydrates; Galactose; Galactosemias; Glucose; Humans; Lactose; Lactose Intolerance; Malabsorption Syndromes

1979
CP-45,634: a novel aldose reductase inhibitor that inhibits polyol pathway activity in diabetic and galactosemic rats.
    Metabolism: clinical and experimental, 1979, Volume: 28, Issue:4 Suppl 1

    Topics: Aldehyde Reductase; Animals; Benzopyrans; Cataract; Chromans; Diabetes Mellitus, Experimental; Galactitol; Galactose; Galactosemias; Imidazoles; Imidazolidines; Kinetics; Lens, Crystalline; Male; Polymers; Rats; Sciatic Nerve; Sorbitol; Sugar Alcohol Dehydrogenases

1979
Plasma insulin, carbohydrate, and free fatty acid changes in newly born infants of diabetic and non-diabetic mothers after loading with glucose, fructose, and galactose.
    Physiologia Bohemoslovaca, 1979, Volume: 28, Issue:2

    Topics: Blood Glucose; Fatty Acids, Nonesterified; Female; Fructose; Galactose; Galactosemias; Glucose; Humans; Infant, Newborn; Insulin; Lactates; Monosaccharides; Pregnancy; Pregnancy in Diabetics; Pyruvates

1979
Galactose and glucose metabolism in galactokinase deficient, galactose-1-P-uridyl transferase deficient and normal human fibroblasts.
    Journal of cellular physiology, 1975, Volume: 85, Issue:3

    Topics: Adult; Biochemistry; Carbohydrate Metabolism, Inborn Errors; Carbon Dioxide; Cell Line; Child; Child, Preschool; Female; Fibroblasts; Galactose; Galactosemias; Glucose; Humans; Infant; Infant, Newborn; Kinetics; Male; Middle Aged; Nucleotidyltransferases; Phenotype; Phosphotransferases; UTP-Hexose-1-Phosphate Uridylyltransferase

1975
Detection of inborn errors of metabolism. IV. Galactokinase deficiency.
    Clinical genetics, 1975, Volume: 8, Issue:3

    Topics: Carbohydrate Metabolism, Inborn Errors; Cell Line; Female; Fibroblasts; Galactose; Galactosemias; Humans; Phosphotransferases; Pregnancy; Prenatal Diagnosis

1975
Studies on the molecular defect in galactosemia.
    UCLA forum in medical sciences, 1975, Issue:18

    Topics: Adenosine Triphosphate; Catalysis; Cells, Cultured; Erythrocytes; Fibroblasts; Galactose; Galactosemias; Humans; Phosphotransferases; UTP-Hexose-1-Phosphate Uridylyltransferase

1975
Galactose metabolism in relation to cataract formation in marsupials.
    The Australian journal of experimental biology and medical science, 1975, Volume: 53, Issue:3

    Topics: Adult; Age Factors; Animals; Cataract; Cattle; Disease Models, Animal; Erythrocytes; Galactose; Galactosemias; Humans; Macropodidae; Marsupialia; Milk; Phosphotransferases; UTP-Hexose-1-Phosphate Uridylyltransferase

1975
[Galactokinase deficiency, cause of hereditary cataract. Recent publications].
    Revue medicale de Liege, 1975, Jun-01, Volume: 30, Issue:11

    Topics: Adolescent; Cataract; Child; Child, Preschool; Galactose; Galactosemias; Humans; Infant; Phosphotransferases

1975
[Diagnosis and therapy of 6 hereditary, to mental-deficiency-leading, metabolic disorders. 2].
    Medizinische Klinik, 1976, Apr-30, Volume: 71, Issue:18

    Topics: Acute Disease; Diagnosis, Differential; Galactose; Galactosemias; Germany, West; Histidine; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Methionine; Phosphotransferases

1976
[Congenital enzyme deficiency in carbohydrate metabolism. Its significance for clinical pediatrics and human biochemical genetics (author's transl)].
    MMW, Munchener medizinische Wochenschrift, 1976, May-07, Volume: 118, Issue:19

    Topics: Carbohydrate Metabolism, Inborn Errors; Fructose Intolerance; Fructose-1,6-Diphosphatase Deficiency; Galactose; Galactosemias; Glycogen Storage Disease Type I; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type VI; Glycogen Synthase; Humans; Infant; Infant, Newborn; Lactates; Liver; Phosphotransferases; Pyruvate Carboxylase Deficiency Disease; Pyruvate Dehydrogenase Complex Deficiency Disease; Racemases and Epimerases

1976
Biokinetics of galactose in the homozygotes and heterozygotes of both forms of galactosemia.
    Clinica chimica acta; international journal of clinical chemistry, 1976, Nov-01, Volume: 72, Issue:3

    Topics: Adolescent; Child; Child, Preschool; Female; Galactose; Galactosemias; Heterozygote; Homozygote; Humans; Liver Diseases; Male; Nucleotidyltransferases; Phosphotransferases; UTP-Hexose-1-Phosphate Uridylyltransferase

1976
[Screening of newborns for inborn errors of galactose metabolism. Methods and results].
    Monatsschrift fur Kinderheilkunde, 1976, Volume: 129, Issue:9

    Topics: Biological Assay; Clinical Enzyme Tests; Erythrocytes; Escherichia coli; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Nucleotidyltransferases; Phosphotransferases; Switzerland; UTP-Hexose-1-Phosphate Uridylyltransferase

1976
[Cataract due to galactokinase deficiency in a premature infant].
    Archives francaises de pediatrie, 1976, Volume: 33, Issue:1

    Topics: Cataract; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Premature, Diseases; Phosphotransferases

1976
Prenatal diagnosis of galactosemia.
    Clinica chimica acta; international journal of clinical chemistry, 1977, Feb-01, Volume: 74, Issue:3

    Topics: Amniotic Fluid; Cells, Cultured; Clinical Enzyme Tests; Electrophoresis, Starch Gel; Erythrocytes; Female; Fetus; Fibroblasts; Galactose; Galactosemias; Humans; Liver; Lung; Phosphotransferases; Pregnancy; Prenatal Diagnosis; Skin; UTP-Hexose-1-Phosphate Uridylyltransferase

1977
Excretion of galactitol in the urine of heterozygotes of both forms of galactosemia.
    Clinica chimica acta; international journal of clinical chemistry, 1977, Mar-01, Volume: 75, Issue:2

    Topics: Galactose; Galactosemias; Heterozygote; Homozygote; Humans; Phosphotransferases; Sugar Alcohols; UTP-Hexose-1-Phosphate Uridylyltransferase

1977
The activity of galactose-1-phosphate uridyltransferase and galactokinase in human fetal organs.
    Pediatric research, 1977, Volume: 11, Issue:10 Pt 1

    Topics: Child; Fetus; Galactose; Galactosemias; Gestational Age; Humans; Infant; Kinetics; Liver; Methods; Nucleotidyltransferases; Phosphotransferases; UTP-Hexose-1-Phosphate Uridylyltransferase

1977
Ultrastructural features of human galactosaemic fibroblasts: effects of different nutritional environments.
    Cytobios, 1976, Volume: 17, Issue:67-68

    Topics: Autolysis; Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Glucose; Humans; Phosphotransferases; UTP-Hexose-1-Phosphate Uridylyltransferase; Vacuoles

1976
Errors of carbohydrate metabolism in infants and children: a survey.
    Clinical pediatrics, 1978, Volume: 17, Issue:11

    Topics: Carbohydrate Metabolism, Inborn Errors; Diarrhea; Fructokinases; Fructose Intolerance; Fructose-1,6-Diphosphatase Deficiency; Galactokinase; Galactose; Galactosemias; Glucose; Humans; Lactose Intolerance; Malabsorption Syndromes; Sucrase-Isomaltase Complex; Syndrome; Transferases; Uridine Diphosphate Galactose

1978
[Clinical and biochemical diagnosis of galactosemia among our cases].
    Problemy medycyny wieku rozwojowego, 1979, Volume: 8

    Topics: Adult; Blood Glucose; Erythrocytes; Female; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Infant, Newborn; Male; Pedigree; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; UTP-Hexose-1-Phosphate Uridylyltransferase

1979
[Galactosemia].
    Problemy medycyny wieku rozwojowego, 1979, Volume: 8

    Topics: Alleles; Galactokinase; Galactose; Galactosemias; Heterozygote; Homozygote; Humans; Infant; Infant, Newborn; Polymorphism, Genetic; UDPglucose 4-Epimerase; UDPglucose-Hexose-1-Phosphate Uridylyltransferase

1979
Inhibitory action of galactose on phagocytes from normal and hypergalactosemic chicks.
    Infection and immunity, 1977, Volume: 16, Issue:1

    Topics: Animals; Chickens; Escherichia coli; Galactose; Galactosemias; Liver; Organ Size; Phagocytes; Phagocytosis; Spleen; Time Factors

1977
Alterations of lens protein synthesis in galactosemic rats.
    Investigative ophthalmology & visual science, 1979, Volume: 18, Issue:7

    Topics: Animals; Cataract; Crystallins; Diet; Eye Proteins; Galactose; Galactosemias; Lens, Crystalline; Potassium; Rats; Sodium

1979
Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.
    Science (New York, N.Y.), 1979, Sep-28, Volume: 205, Issue:4413

    Topics: Cells, Cultured; Galactose; Galactosemias; Galactosephosphates; Glucose; Humans; Nucleotidyltransferases; Sulfates; UTP-Hexose-1-Phosphate Uridylyltransferase

1979
Changes in blood glucose and plasma insulin after intravenous galactose in human injury.
    Clinical science (London, England : 1979), 1979, Volume: 57, Issue:3

    Topics: Adolescent; Adult; Aged; Blood Glucose; Female; Galactose; Galactosemias; Glucose Tolerance Test; Hip; Humans; Hyperglycemia; Injections, Intravenous; Insulin; Ketones; Lactates; Liver; Male; Middle Aged; Wounds and Injuries

1979
[Examination of galactose metabolism].
    Nihon rinsho. Japanese journal of clinical medicine, 1979, Jun-29, Volume: Suppl

    Topics: Galactose; Galactosemias; Humans; Methods

1979
Serum carbohydrate levels following galactose and galactose plus glucose given to rats.
    The Proceedings of the Nutrition Society, 1979, Volume: 38, Issue:2

    Topics: Animals; Blood Glucose; Drug Synergism; Galactose; Galactosemias; Glucose; Male; Rats; Species Specificity

1979
Quantitative gas-liquid chromatography of neutral sugars in human serum glycoproteins. Fucose, mannose, and galactose as predictors in ovarian and small cell lung carcinoma.
    Journal of chromatography, 1979, Apr-11, Volume: 162, Issue:4

    Topics: Carcinoma; Chromatography, Gas; Drug Stability; Female; Fucose; Galactose; Galactosemias; Gas Chromatography-Mass Spectrometry; Glucose; Glycoproteins; Humans; Lung Neoplasms; Mannose; Ovarian Neoplasms

1979
Some metabolic effects of ingesting galactose, before and after a high-lactose diet.
    The Proceedings of the Nutrition Society, 1978, Volume: 37, Issue:1

    Topics: Animals; Blood Glucose; Galactose; Galactosemias; Humans; Lactose; Lactose Tolerance Test; Milk; Time Factors

1978
Effect of sites of blood sampling in determination of the galactose elimination capacity.
    Scandinavian journal of clinical and laboratory investigation, 1977, Volume: 37, Issue:4

    Topics: Adult; Aged; Arteries; Blood Specimen Collection; Capillaries; Female; Galactose; Galactosemias; Humans; Injections, Intravenous; Male; Metabolic Clearance Rate; Middle Aged; Time Factors; Veins

1977
The metabolic response to galactose as a measure of hepatic glucose release in man.
    Clinical science and molecular medicine, 1978, Volume: 54, Issue:1

    Topics: Adult; Aged; Blood Glucose; Female; Galactose; Galactosemias; Glucose; Half-Life; Humans; Insulin; Lactates; Liver; Male; Middle Aged

1978
Effect of sinusoidal perfusion on galactose elimination kinetics in perfused rat liver.
    The Journal of pharmacology and experimental therapeutics, 1978, Volume: 205, Issue:2

    Topics: Animals; Female; Galactose; Galactosemias; Kinetics; Liver; Models, Biological; Perfusion; Rats

1978
[Galactosemia and cow's milk intolerance (author's transl)].
    Anales espanoles de pediatria, 1978, Volume: 11, Issue:2

    Topics: Animals; Cattle; Galactose; Galactosemias; Humans; Infant, Newborn; Lactose Intolerance; Malabsorption Syndromes; Male; UDPglucose-Hexose-1-Phosphate Uridylyltransferase

1978
Newborn screening for galactosemia and other galactose metabolic defects.
    The Journal of pediatrics, 1978, Volume: 92, Issue:6

    Topics: Carbohydrate Metabolism, Inborn Errors; Costs and Cost Analysis; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening

1978
[Disorder of galactose metabolism and damage of the small intestine. Possible causal relationship based on the analysis of 40 pediatric cases].
    Orvosi hetilap, 1978, Jul-02, Volume: 119, Issue:27

    Topics: Child, Preschool; Diagnosis, Differential; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Malabsorption Syndromes; Metabolism, Inborn Errors

1978
Coated charcoal hemoperfusion for the removal galactose in rats.
    The International journal of artificial organs, 1978, Volume: 1, Issue:3

    Topics: Adsorption; Animals; Charcoal; Cocos; Galactose; Galactosemias; Hemoperfusion; Kidneys, Artificial; Male; Petroleum; Rats

1978
Reproducibility of the intravenous galactose tolerance test.
    Acta hepato-gastroenterologica, 1978, Volume: 25, Issue:4

    Topics: Galactose; Galactosemias; Humans; Methods

1978
[Intravenous galactose overload as a test of hepatic function].
    Revista clinica espanola, 1978, Volume: 150, Issue:3-4

    Topics: Adolescent; Adult; Aged; Female; Galactose; Galactosemias; Humans; Injections, Intravenous; Liver Diseases; Liver Function Tests; Liver Neoplasms; Male; Middle Aged

1978
[Galactose metabolism disturbance and small intestine lesions].
    Verhandlungen der Deutschen Gesellschaft fur Pathologie, 1978, Volume: 62

    Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Galactosemias; Humans; Infant; Intestinal Mucosa; Intestine, Small

1978
[Galactosemia and its prenatal diagnosis].
    Ginekologia polska, 1978, Volume: 49, Issue:12

    Topics: Amniocentesis; Amniotic Fluid; Female; Fetus; Galactose; Galactosemias; Hexosephosphates; Humans; Nucleotidyltransferases; Pregnancy; Prenatal Diagnosis; UDPglucose-Hexose-1-Phosphate Uridylyltransferase

1978
Quantitative comparison and evaluation of utilization of parenteral administered carbohydrates.
    Nutrition and metabolism, 1975, Volume: 18 Suppl 1

    Topics: Blood Glucose; Dietary Carbohydrates; Ethanol; Fructose; Galactose; Galactosemias; Glucose; Glycosuria; Humans; Insulin; Parenteral Nutrition; Uric Acid; Xylitol

1975
[Prenatal diagnosis of metabolic abnormalities in cell cultures (author's transl)].
    MMW, Munchener medizinische Wochenschrift, 1975, Oct-24, Volume: 117, Issue:43

    Topics: Amniotic Fluid; Autoradiography; Carbon Dioxide; Carbon Radioisotopes; Cell Line; Cells, Cultured; Culture Media; Cytodiagnosis; Female; Fibroblasts; Galactose; Galactosemias; Humans; Lesch-Nyhan Syndrome; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Mucopolysaccharidoses; Pregnancy; Prenatal Diagnosis; Sulfur

1975
Impaired galactose tolerance in older patients with galactosaemia.
    Australian paediatric journal, 1977, Volume: 13, Issue:1

    Topics: Adolescent; Adult; Blood Glucose; Child; Child, Preschool; Female; Galactose; Galactosemias; Humans; Insulin; Male

1977
Evaluation of metabolic pathway activity in cultured skin fibroblasts and blood leukocytes.
    Clinica chimica acta; international journal of clinical chemistry, 1977, Jun-15, Volume: 77, Issue:3

    Topics: Acidosis; Adult; Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Galactose; Galactosemias; Glucose; Humans; Hypoxanthines; Infant; Lactates; Lesch-Nyhan Syndrome; Leukocytes; Male; Metabolic Diseases; Methylmalonic Acid; Middle Aged; Oxidation-Reduction; Propionates; Pyruvates; Skin

1977
Biochemical expression of the galactosemic defect in lymphocytes and the effects on glycoprotein synthesis.
    Metabolism: clinical and experimental, 1977, Volume: 26, Issue:9

    Topics: Adolescent; Adult; Child, Preschool; Female; Fucose; Galactosamine; Galactose; Galactosemias; Glycoproteins; Hexosamines; Hexoses; Humans; Lectins; Leucine; Lymphocyte Activation; Lymphocytes; Male; Mannose; Thymidine

1977
[Galactosemia: report of a case (author's transl)].
    Lijecnicki vjesnik, 1976, Volume: 98, Issue:2

    Topics: Diagnosis, Differential; Diarrhea, Infantile; Galactose; Galactosemias; Hepatomegaly; Humans; Infant

1976
Renal sugar transport in the winter flounder. I. Renal clearance studies.
    The American journal of physiology, 1976, Volume: 231, Issue:2

    Topics: Animals; Deoxy Sugars; Deoxyglucose; Fishes; Galactose; Galactosemias; Glomerular Filtration Rate; Glucose; Kidney Tubules; Methylglucosides; Methylglycosides; Phlorhizin

1976
Problems encountered in the diagnosis of galactosaemia.
    Australian paediatric journal, 1976, Volume: 12, Issue:1

    Topics: Female; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Male

1976
Galactose-1-phosphate uridyl transferase in fibroblasts: isozymes in normal and variant states.
    Annals of human genetics, 1975, Volume: 39, Issue:2

    Topics: Electrophoresis, Starch Gel; Fibroblasts; Galactose; Galactosemias; Genetic Variation; Humans; Nucleotidyltransferases; Skin; UTP-Hexose-1-Phosphate Uridylyltransferase

1975
[A case of atypical galactosemia(author's transl)].
    Humangenetik, 1975, Volume: 27, Issue:4

    Topics: Erythrocytes; Female; Galactose; Galactosemias; Genes, Recessive; Humans; Infant, Newborn; Male; Nucleotidyltransferases; Pedigree

1975
Rennes-like variant of galactosemia: clinical and biochemical studies.
    The Journal of pediatrics, 1975, Volume: 87, Issue:1

    Topics: Adult; Clinical Enzyme Tests; Electrophoresis, Starch Gel; Erythrocytes; Female; Fibroblasts; Galactose; Galactosemias; Genes; Genetic Variation; Hemolysis; Humans; Infant; Male; Nucleotidyltransferases; Uridine Diphosphate Glucose; Uridine Diphosphate Sugars; UTP-Hexose-1-Phosphate Uridylyltransferase; White People

1975
[Stimulation of DNA synthesis and mitoses in the rat liver in experimental galactosemia caused by the prolonged administration of galactose].
    Tsitologiia, 1975, Volume: 17, Issue:9

    Topics: Animals; Autoradiography; Diet; DNA; Enzyme Activation; Galactose; Galactosemias; Liver; Male; Mitosis; Organ Size; Rats; Time Factors; UTP-Hexose-1-Phosphate Uridylyltransferase

1975
Mannitol excretion in galactosemia patients.
    Clinica chimica acta; international journal of clinical chemistry, 1975, Oct-01, Volume: 64, Issue:1

    Topics: Adenosine Diphosphate; Adenosine Triphosphate; Blood Glucose; Erythrocytes; Fructose; Galactitol; Galactose; Galactosemias; Humans; Mannitol

1975
Concentration and transport of different sugars in the lymph of the thoracic duct and in blood of the portal vein in dogs after enteral and parenteral administration.
    Digestion, 1975, Volume: 12, Issue:4-6

    Topics: Animals; Biological Transport; Blood Glucose; Carbohydrate Metabolism; Catheterization; Dogs; Fructose; Galactose; Galactosemias; Glucose; Hepatic Veins; Injections, Intravenous; Intestinal Absorption; Inulin; Lymph; Mesenteric Veins; Portal Vein; Thoracic Duct

1975
Increased serum urate in galactosemia patients after a galactose load: a possible role of nucleotide deficiency in galactosemic liver injury.
    Klinische Wochenschrift, 1975, Dec-15, Volume: 53, Issue:24

    Topics: Blood Glucose; Child; Erythrocytes; Galactose; Galactosemias; Humans; Liver Diseases; UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Uracil Nucleotides; Uric Acid

1975
Increased intracranial pressure in galactosemia. Consider this diagnosis with a bulging fontanel, hepatomegaly, and failure to thrive.
    Clinical pediatrics, 1976, Volume: 15, Issue:4

    Topics: Diet Therapy; Galactose; Galactosemias; Growth Disorders; Hepatomegaly; Humans; Infant; Intracranial Pressure; Male; Neurologic Manifestations

1976
Michaelis-Menten kinetics of galactose elimination by the isolated perfused pig liver.
    The American journal of physiology, 1976, Volume: 230, Issue:5

    Topics: Animals; Female; Galactose; Galactosemias; Hexosephosphates; In Vitro Techniques; Kinetics; Liver; Mathematics; Models, Biological; Swine; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose

1976
Galactosemia: evaluation with MR imaging.
    Radiology, 1992, Volume: 184, Issue:1

    Topics: Adolescent; Adult; Age Factors; Brain Diseases; Child; Child, Preschool; Diagnosis, Differential; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Phosphotransferases; Racemases and Epimerases; Transferases

1992
Newborn screening for galactosemia in Tennessee.
    Journal of the Tennessee Medical Association, 1992, Volume: 85, Issue:11

    Topics: Follow-Up Studies; Galactose; Galactosemias; Humans; Infant, Newborn; Neonatal Screening; Tennessee; UTP-Hexose-1-Phosphate Uridylyltransferase

1992
Transient elevation of aldose reductase mRNA in lens of rats developing galactose cataracts.
    Molecular and cellular biochemistry, 1992, Sep-22, Volume: 115, Issue:1

    Topics: Aldehyde Reductase; Animals; Cataract; Crystallins; Enzyme Induction; Epithelium; Eye Proteins; Female; Galactose; Galactosemias; Lens, Crystalline; Proto-Oncogene Proteins c-myc; Rats; Rats, Sprague-Dawley; RNA, Messenger

1992
Polyol pathway-mediated changes in cardiac muscle contractile properties: studies in streptozotocin-diabetic and galactose-fed rats.
    Experimental physiology, 1992, Volume: 77, Issue:6

    Topics: Animals; Carbohydrate Metabolism; Diabetes Mellitus, Experimental; Diet; Galactose; Galactosemias; Heart Ventricles; Isoproterenol; Male; Myocardial Contraction; Myocardium; Papillary Muscles; Polymers; Rats; Rats, Sprague-Dawley

1992
Expression of c-myc protooncogene in rat lens cells during development, maturation and reversal of galactose cataracts.
    Molecular and cellular biochemistry, 1992, May-13, Volume: 112, Issue:1

    Topics: Animals; Cataract; Epithelium; Female; Galactose; Galactosemias; Gene Expression; Genes, myc; Lens, Crystalline; Rats; Rats, Inbred Strains; RNA, Messenger

1992
[Formation of congenital cataract in the offspring of galactosemic rats].
    Nippon Ganka Gakkai zasshi, 1992, Volume: 96, Issue:1

    Topics: Administration, Oral; Animal Feed; Animals; Cataract; Female; Galactose; Galactosemias; Gestational Age; Pregnancy; Rats; Rats, Inbred Strains

1992
[Cell kinetics of lens epithelial cells on the whole-mount preparation (3). Changes in mouse cataract lens by feeding galactose].
    Nippon Ganka Gakkai zasshi, 1992, Volume: 96, Issue:1

    Topics: Administration, Oral; Animal Feed; Animals; Cataract; Cell Cycle; Cytological Techniques; Epithelium; Galactose; Galactosemias; Lens, Crystalline; Mice; Mice, Inbred ICR

1992
Relationship between hepatic blood flow and tissue lipid peroxidation in the early postburn period.
    Critical care medicine, 1992, Volume: 20, Issue:6

    Topics: Animals; Blood Gas Analysis; Blood Pressure; Burns; Galactose; Galactosemias; Lipid Peroxidation; Liver; Liver Circulation; Resuscitation; Sheep; Time Factors

1992
Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency.
    Pediatric research, 1992, Volume: 31, Issue:5

    Topics: Carbohydrate Metabolism; Carbohydrate Sequence; Carbohydrates; Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Glycosylation; Humans; Molecular Sequence Data; Uridine Diphosphate Galactose; UTP-Hexose-1-Phosphate Uridylyltransferase

1992
A study of galactose intolerance in human and rat liver in vivo by 31P magnetic resonance spectroscopy.
    Pediatric research, 1992, Volume: 32, Issue:1

    Topics: Adenosine Triphosphate; Adult; Animals; Child; Disease Models, Animal; Female; Galactose; Galactosemias; Galactosephosphates; Humans; Liver; Magnetic Resonance Spectroscopy; Male; NAD; Phosphates; Rats; Rats, Inbred Strains; Uridine Diphosphate Galactose

1992
Mechanism of delayed hepatic glycogen synthesis after an oral galactose load vs. an oral glucose load in adult rats.
    The American journal of physiology, 1992, Volume: 263, Issue:1 Pt 1

    Topics: Absorption; Administration, Oral; Animals; Blood Glucose; Galactose; Galactosemias; Glucose; Glycogen; Glycogen Synthase; Liver; Male; Osmolar Concentration; Rats; Rats, Inbred Strains; Time Factors

1992
Urinary and serum galactitol in galactosemic patients.
    Acta paediatrica Japonica : Overseas edition, 1991, Volume: 33, Issue:1

    Topics: Child; Child, Preschool; Galactitol; Galactose; Galactosemias; Humans; Infant; Male

1991
Bad taste.
    Nature, 1991, Aug-08, Volume: 352, Issue:6335

    Topics: Animal Feed; Animals; Diabetes Mellitus; Diabetes Mellitus, Experimental; Galactose; Galactosemias; Humans; Research Design; Taste

1991
Fruits and vegetables are a source of galactose: implications in planning the diets of patients with galactosaemia.
    Journal of inherited metabolic disease, 1991, Volume: 14, Issue:2

    Topics: Fruit; Galactose; Galactosemias; Humans; Vegetables

1991
Renal hemodynamics in experimentally galactosemic dogs and diabetic dogs.
    Metabolism: clinical and experimental, 1991, Volume: 40, Issue:5

    Topics: Aldehyde Reductase; Animals; Diabetes Mellitus, Experimental; Dogs; Galactose; Galactosemias; Glomerular Filtration Rate; Glucose; Hemodynamics; Renal Circulation

1991
Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes.
    Biochemical medicine and metabolic biology, 1991, Volume: 46, Issue:1

    Topics: Acetylgalactosamine; Brain; Cell Line; Cerebrosides; Galactose; Galactosemias; Gangliosides; Glycolipids; Glycosphingolipids; Humans; Infant, Newborn; Lymphocytes; Uridine Diphosphate Galactose

1991
Modulation of rat tissue galactose-1-phosphate uridyltransferase by uridine and uridine triphosphate.
    Pediatric research, 1991, Volume: 30, Issue:3

    Topics: Animals; Animals, Newborn; Brain; Female; Galactose; Galactosemias; Ovary; Pregnancy; Rats; Uridine; Uridine Triphosphate; UTP-Hexose-1-Phosphate Uridylyltransferase

1991
Fulminant hepatitis B and neonatal hepatitis with galactosemia-like presentation.
    Clinical pediatrics, 1991, Volume: 30, Issue:3

    Topics: Galactose; Galactosemias; Hepatitis; Hepatitis B; Humans; Infant, Newborn; Jaundice, Neonatal; Male

1991
Culture of galactosaemic fibroblasts in the presence of galactose: effect of inosine.
    Journal of inherited metabolic disease, 1990, Volume: 13, Issue:6

    Topics: Cell Division; Cells, Cultured; Child, Preschool; Culture Media; Fibroblasts; Galactokinase; Galactose; Galactosemias; Galactosephosphates; Humans; Infant; Inosine; UTP-Hexose-1-Phosphate Uridylyltransferase

1990
Increases in collagen type IV and laminin in galactose-induced retinal capillary basement membrane thickening--prevention by an aldose reductase inhibitor.
    Experimental eye research, 1990, Volume: 50, Issue:3

    Topics: Aldehyde Reductase; Animals; Basement Membrane; Capillaries; Collagen; Diabetic Retinopathy; Galactose; Galactosemias; Imidazoles; Imidazolidines; Laminin; Rats; Rats, Inbred WKY; Retinal Vessels; Sugar Alcohol Dehydrogenases

1990
Results of newborn screening for galactose metabolic disorders.
    Journal of inherited metabolic disease, 1990, Volume: 13, Issue:1

    Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Galactosemias; Galactosephosphates; Genetic Carrier Screening; Humans; Infant, Newborn; Mass Screening; UDPglucose 4-Epimerase

1990
Vascular filtration function in galactose-fed versus diabetic rats: the role of polyol pathway activity.
    Metabolism: clinical and experimental, 1990, Volume: 39, Issue:7

    Topics: Animals; Aorta; Blood Vessels; Cobalt Radioisotopes; Diabetes Mellitus, Experimental; Edetic Acid; Eye; Galactose; Galactosemias; Glomerular Filtration Rate; Hemodynamics; Imidazoles; Imidazolidines; Immunoglobulin G; Iodine Radioisotopes; Kidney; Male; Metabolic Clearance Rate; Polymers; Rats; Rats, Inbred Strains; Sciatic Nerve; Serum Albumin, Bovine

1990
Galactosaemia: sensitive bioluminescent assays for galactose and red cell galactose-1-phosphate.
    Journal of inherited metabolic disease, 1990, Volume: 13, Issue:3

    Topics: Erythrocytes; Galactose; Galactosemias; Galactosephosphates; Humans; Luciferases; Luminescent Measurements

1990
The effects of sorbinil, an aldose reductase inhibitor, on the corneal endothelium in galactosemic dogs.
    Investigative ophthalmology & visual science, 1990, Volume: 31, Issue:11

    Topics: Aldehyde Reductase; Animals; Cell Count; Dogs; Endothelium, Corneal; Galactose; Galactosemias; Image Processing, Computer-Assisted; Imidazoles; Imidazolidines; Male; Random Allocation

1990
Aldose reductase messenger RNA in the lens epithelium in vivo: effects of diabetes mellitus and galactosaemia.
    Clinical science (London, England : 1979), 1990, Volume: 79, Issue:6

    Topics: Aldehyde Reductase; Animals; Diabetes Mellitus; Epithelium; Female; Galactose; Galactosemias; Lens, Crystalline; Nucleic Acid Hybridization; Rats; Rats, Inbred Strains; RNA, Messenger

1990
[Oral galactose tolerance test in the study of glucose metabolism disorders in patients with liver disease].
    Giornale di clinica medica, 1990, Volume: 71, Issue:3

    Topics: Blood Glucose; Chronic Disease; Diabetes Mellitus, Type 2; Female; Galactose; Galactosemias; Glucose Tolerance Test; Hepatitis; Humans; Insulin; Liver Cirrhosis; Male; Middle Aged; Time Factors

1990
Metabolic studies of galactosemic cataract.
    Experimental eye research, 1990, Volume: 51, Issue:4

    Topics: Animals; Cataract; Galactitol; Galactose; Galactosemias; Lens, Crystalline; Magnetic Resonance Spectroscopy; Male; Osmolar Concentration; Phosphorus; Rats; Rats, Inbred Strains

1990
A simple procedure to exclude false-positive galactose screening test results caused by antibiotics.
    Clinica chimica acta; international journal of clinical chemistry, 1990, Nov-15, Volume: 192, Issue:1

    Topics: Anti-Bacterial Agents; False Positive Reactions; Galactose; Galactosemias; Humans; Spectrophotometry

1990
Plasma 1,5-anhydroglucitol in experimental galactosemia in the rat.
    Experientia, 1990, Jan-15, Volume: 46, Issue:1

    Topics: Animals; Deoxy Sugars; Deoxyglucose; Fructose; Galactose; Galactosemias; Glucose; Rats; Rats, Inbred Strains; Xylose

1990
Effect of prolonged galactose consumption on galactose tolerance in young healthy humans.
    Annals of nutrition & metabolism, 1990, Volume: 34, Issue:1

    Topics: Adult; Blood Glucose; Dietary Carbohydrates; Dose-Response Relationship, Drug; Female; Galactitol; Galactokinase; Galactose; Galactosemias; Glycosylation; Humans; Male; Sex Factors; Sugar Alcohols; Time Factors

1990
Allopurinol promotes and butylated hydroxy toluene prevents sugar-induced cataractogenesis.
    Biochemical and biophysical research communications, 1990, May-16, Volume: 168, Issue:3

    Topics: Allopurinol; Animals; Butylated Hydroxytoluene; Cataract; Diabetes Mellitus, Experimental; Diet; Galactose; Galactosemias; Lipid Peroxidation; Male; Rats; Rats, Inbred Strains

1990
A simple, sensitive liquid chromatographic method for quantitation of D-galactose and D-glucose in blood plasma.
    Biomedical chromatography : BMC, 1990, Volume: 4, Issue:2

    Topics: Animals; Blood Glucose; Chromatography, Liquid; Diet; Galactose; Galactosemias; Male; Quality Control; Rats; Rats, Inbred Strains

1990
Defective galactosylation of proteins in cultured skin fibroblasts from galactosaemic patients.
    Annals of clinical biochemistry, 1990, Volume: 27 ( Pt 3)

    Topics: Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Glycoproteins; Humans

1990
Gonadal function and ovarian galactose metabolism in classic galactosemia.
    Acta endocrinologica, 1989, Volume: 120, Issue:2

    Topics: Adolescent; Adult; Carbon Dioxide; Estradiol; Female; Follicle Stimulating Hormone; Galactose; Galactosemias; Humans; Luteinizing Hormone; Menotropins; Ovary; Ovulation

1989
The prevention of biochemical changes in lens, retina, and nerve of galactosemic dogs by the aldose reductase inhibitor AL01576.
    Journal of ocular pharmacology, 1989,Fall, Volume: 5, Issue:3

    Topics: Administration, Oral; Aldehyde Reductase; Analysis of Variance; Animals; Dogs; Fluorenes; Galactitol; Galactose; Galactosemias; Glutathione; Hydantoins; Inositol; Lens, Crystalline; Male; Retina; Sciatic Nerve; Sugar Alcohol Dehydrogenases

1989
Idiopathic presenile cataract formation and galactosaemia.
    The British journal of ophthalmology, 1989, Volume: 73, Issue:1

    Topics: Adult; Cataract; Cataract Extraction; Erythrocytes; Female; Galactokinase; Galactose; Galactosemias; Humans; Male; Middle Aged; Nucleotidyltransferases; UTP-Hexose-1-Phosphate Uridylyltransferase

1989
Effect of 5% galactose diet on galactose and dulcitol in plasma and lens of male and female pigs.
    Annals of nutrition & metabolism, 1989, Volume: 33, Issue:6

    Topics: Analysis of Variance; Animals; Dietary Carbohydrates; Female; Galactitol; Galactose; Galactosemias; Lens, Crystalline; Male; Sex Factors; Sugar Alcohols; Swine

1989
[Significance of galactose analysis in clinical tests].
    Nihon rinsho. Japanese journal of clinical medicine, 1989, Volume: 48 Suppl

    Topics: Galactose; Galactosemias; Humans; Spectrophotometry

1989
Newborn screening for galactosemia: a new method used in Manitoba.
    Pediatrics, 1989, Volume: 84, Issue:2

    Topics: Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Manitoba; Mass Screening

1989
Galactose metabolism in human ovarian tissue.
    Pediatric research, 1989, Volume: 25, Issue:2

    Topics: Adult; Aged; Female; Galactose; Galactosemias; Humans; Hypogonadism; Middle Aged; Ovary

1989
Hyperglycemia as a cause of diabetic retinopathy.
    Metabolism: clinical and experimental, 1986, Volume: 35, Issue:4 Suppl 1

    Topics: Aldehyde Reductase; Animals; Basement Membrane; Cataract; Diabetes Mellitus, Experimental; Diabetic Retinopathy; Dogs; Galactose; Galactosemias; Glycated Hemoglobin; Hexoses; Humans; Hyperglycemia; Rats; Retinal Vessels

1986
Aldose reductase activity and basement membrane thickening.
    Metabolism: clinical and experimental, 1986, Volume: 35, Issue:4 Suppl 1

    Topics: Aldehyde Reductase; Animals; Basement Membrane; Collagen; Diabetes Mellitus; Dogs; Female; Galactose; Galactosemias; Humans; Imidazoles; Imidazolidines; Mice; Microscopy, Electron; Rats; Rats, Inbred WKY; Retinal Vessels; Sugar Alcohol Dehydrogenases

1986
Resistant ovary syndrome and premature ovarian failure in young women with galactosaemia.
    Clinical reproduction and fertility, 1986, Volume: 4, Issue:2

    Topics: Adult; Female; Follicle Stimulating Hormone; Galactose; Galactosemias; Humans; Luteinizing Hormone; Ovarian Diseases; Ovary

1986
r-Galactonolactone in experimental galactosemic animals.
    Archives of biochemistry and biophysics, 1986, Nov-15, Volume: 251, Issue:1

    Topics: Aldehyde Reductase; Animals; Galactose; Galactosemias; Guinea Pigs; Imidazoles; Imidazolidines; Lactones; Liver; Male; Metabolic Clearance Rate; Oxidation-Reduction; Tissue Distribution

1986
Tubular function of kidney after galactose loading in two patients with glycogen storage disease type XL.
    Journal of inherited metabolic disease, 1987, Volume: 10, Issue:3

    Topics: Adolescent; Adult; Bicarbonates; Fanconi Syndrome; Galactose; Galactosemias; Glycogen Storage Disease; Humans; Hyperlipidemias; Kidney Tubules; Male; Phosphates; Uric Acid

1987
Transient neonatal galactosaemia.
    Archives of disease in childhood, 1988, Volume: 63, Issue:11

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Lactose; Male; Time Factors; Transferases

1988
Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosaemia.
    Prenatal diagnosis, 1988, Volume: 8, Issue:9

    Topics: Adult; Amniotic Fluid; Female; Galactitol; Galactose; Galactosemias; Humans; Lactose; Pregnancy; Pregnancy Complications; Sugar Alcohols

1988
Patterns of serum glucose and galactose concentrations in term newborn infants after milk feeding.
    Biology of the neonate, 1988, Volume: 54, Issue:6

    Topics: Analysis of Variance; Animals; Blood Glucose; Female; Galactose; Galactosemias; Humans; Infant Food; Infant, Newborn; Liver Function Tests; Male; Milk; Milk, Human

1988
[Galactosemia].
    Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1988, Volume: 33, Issue:5

    Topics: Carbohydrate Epimerases; Chromosome Mapping; Galactokinase; Galactose; Galactosemias; Humans; UDPglucose 4-Epimerase; UTP-Hexose-1-Phosphate Uridylyltransferase

1988
Collagen browning and cross-linking are increased in chronic experimental hyperglycemia. Relevance to diabetes and aging.
    Diabetes, 1988, Volume: 37, Issue:7

    Topics: Aging; Animals; Collagen; Diabetes Mellitus, Experimental; Female; Galactose; Galactosemias; Glucose; Glycosylation; Rats; Rats, Inbred Strains; Spectrometry, Fluorescence; Spectrophotometry; Tendons

1988
Hepatic clearances of antipyrine, indocyanine green, and galactose in normal subjects and in patients with chronic liver diseases.
    Clinical pharmacology and therapeutics, 1988, Volume: 44, Issue:2

    Topics: Adult; Aged; Antipyrine; Chronic Disease; Female; Galactose; Galactosemias; Hepatitis; Humans; Indocyanine Green; Liver; Liver Circulation; Liver Cirrhosis; Liver Diseases; Male; Middle Aged; Models, Biological

1988
[Influence of glucose on the conversion of galactose into galactitol in the young adult].
    Annals of nutrition & metabolism, 1986, Volume: 30, Issue:3

    Topics: Adult; Blood Glucose; Female; Galactitol; Galactose; Galactosemias; Glucose; Humans; Insulin; Male; Sugar Alcohols

1986
Galactose tolerance in patients with atopic cataracts.
    The British journal of dermatology, 1987, Volume: 117, Issue:1

    Topics: Adolescent; Adult; Cataract; Child; Eczema; Galactose; Galactosemias; Humans; Lens, Crystalline

1987
Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia.
    The New England journal of medicine, 1986, May-08, Volume: 314, Issue:19

    Topics: Acetylgalactosamine; Animals; Carbohydrate Epimerases; Cells, Cultured; Cricetinae; Female; Fibroblasts; Galactose; Galactosemias; Humans; Male; Receptors, LDL; Structure-Activity Relationship; UDPglucose 4-Epimerase

1986
Microassay for estimation of galactose and galactose-1-phosphate in dried blood specimens.
    Clinical biochemistry, 1986, Volume: 19, Issue:4

    Topics: Alkaline Phosphatase; Blood Stains; Fluorometry; Galactose; Galactose Dehydrogenases; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Infant, Newborn; Microchemistry

1986
Oral intake of glucose plus galactose and erythrocyte galactose-1-phosphate. A nutritional evaluation of hydrolyzed lactose.
    Zeitschrift fur Ernahrungswissenschaft, 1986, Volume: 25, Issue:3

    Topics: Adult; Erythrocytes; Female; Galactose; Galactosemias; Galactosephosphates; Glucose; Glucose Solution, Hypertonic; Hexosephosphates; Humans; Male; Middle Aged; Risk

1986
Galactose metabolism in male and female rats. II. Eye-ball differences.
    International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition, 1986, Volume: 56, Issue:3

    Topics: Animals; Aqueous Humor; Cataract; Dietary Carbohydrates; Female; Galactitol; Galactose; Galactosemias; Glucose; Lactose; Lens, Crystalline; Male; Rats

1986
Changes of some biochemical parameters of the lens in galactose-treated weaned rats with and without vitamin E therapy.
    Ophthalmic research, 1985, Volume: 17, Issue:1

    Topics: Aldehyde Reductase; Animals; Cataract; Crystallins; Galactose; Galactosemias; Lens, Crystalline; Rats; Rats, Inbred Strains; Sulfhydryl Compounds; Vitamin E

1985
Galactose and galactitol in the urine of children with compound heterozygosity for Duarte variant and classical galactosemia (GtD/gt) after an oral galactose load.
    Clinical chemistry, 1985, Volume: 31, Issue:3

    Topics: Aging; Child; Child, Preschool; Galactitol; Galactose; Galactosemias; Heterozygote; Humans; Infant; Sugar Alcohols

1985
Prevention of cataract development in severely galactosemic rats by the aldose reductase inhibitor, tolrestat.
    Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1985, Volume: 178, Issue:4

    Topics: Animals; Cataract; Dose-Response Relationship, Drug; Galactitol; Galactose; Galactosemias; Humans; Lens, Crystalline; Male; Naphthalenes; Rats

1985
[Criticism of oral galactose loading as a diagnostic screening method in diseases of the small intestine].
    Orvosi hetilap, 1985, Apr-14, Volume: 126, Issue:15

    Topics: Administration, Oral; Child; Galactose; Galactosemias; Humans; Hungary; Intestine, Small; Lactose Intolerance; Mass Screening; UTP-Hexose-1-Phosphate Uridylyltransferase

1985
A temporal and spatial study of the synthesis and degradation of water-soluble and insoluble proteins in galactosemic rat lenses.
    Experimental eye research, 1985, Volume: 41, Issue:4

    Topics: Animals; Autoradiography; Cataract; Crystallins; Electrophoresis, Polyacrylamide Gel; Female; Galactose; Galactosemias; Methionine; Rats; Rats, Inbred Strains; Solubility; Time Factors

1985
Galactose toxicity in chick cells in vitro.
    Comparative biochemistry and physiology. A, Comparative physiology, 1973, Sep-01, Volume: 46, Issue:1

    Topics: Aging; Animals; Carbon Dioxide; Carbon Radioisotopes; Cell Line; Cells, Cultured; Chick Embryo; Diploidy; Embryonic and Fetal Development; Female; Fibroblasts; Fructose; Galactose; Galactosemias; Glucose; Humans; Lung; Male; Mannose; Species Specificity; Time Factors

1973
Galactose-I-phosphate uridyl transferase: a new manometric assay specially suited to erythrocyte studies in galactosaemia.
    Clinica chimica acta; international journal of clinical chemistry, 1973, Dec-27, Volume: 49, Issue:3

    Topics: Erythrocytes; Evaluation Studies as Topic; Galactose; Galactosemias; Glucose; Glucosephosphate Dehydrogenase; Glucosephosphates; Hemolysis; Hexosediphosphates; Hexosephosphates; Humans; Kinetics; Manometry; Mathematics; Methods; NADP; Nucleotidyltransferases; Oxygen Consumption; Phosphoglucomutase; Uridine Diphosphate Sugars

1973
Prenatal diagnosis of galactosaemia.
    British medical journal, 1974, Nov-16, Volume: 4, Issue:5941

    Topics: Amniocentesis; Amniotic Fluid; Carbon Radioisotopes; Cells, Cultured; Female; Galactose; Galactosemias; Hexosephosphates; Humans; NAD; NADP; Nucleotidyltransferases; Pregnancy; Prenatal Diagnosis

1974
Human galactose 1-phosphate uridylyltransferase. Absence of half-reaction activity of galactosemic proteins.
    The Journal of biological chemistry, 1974, Nov-10, Volume: 249, Issue:21

    Topics: Carbon Radioisotopes; Chromatography, DEAE-Cellulose; Chromatography, Paper; Cross Reactions; Erythrocytes; Galactose; Galactosemias; Genotype; Glucose; Hexosephosphates; Humans; Immunodiffusion; Kinetics; Nucleotidyltransferases; Structure-Activity Relationship; Uridine Diphosphate Sugars

1974
[Effect of vasopressin on galactose distribution in eviscerated, hepatectomized and nephrectomized dogs].
    Comptes rendus des seances de la Societe de biologie et de ses filiales, 1971, Volume: 165, Issue:3

    Topics: Animals; Dogs; Galactose; Galactosemias; Hepatectomy; Infusions, Parenteral; Insulin; Intestines; Lysine; Nephrectomy; Vasopressins

1971
Polyol accumulation in galactosemic and diabetic rats: control by an aldose reductase inhibitor.
    Science (New York, N.Y.), 1973, Dec-14, Volume: 182, Issue:4117

    Topics: Acetates; Administration, Oral; Alcohol Oxidoreductases; Animals; Cataract; Culture Techniques; Diabetes Complications; Diabetes Mellitus; Diabetic Neuropathies; Fructose; Galactose; Galactosemias; Glucose; Isoquinolines; Lens, Crystalline; Rats; Sciatic Nerve; Sorbitol; Streptozocin; Sugar Alcohols

1973
[Metabolically conditioned forms of imbecility and their diagnosis. II. Galactosemia].
    Zeitschrift fur klinische Chemie und klinische Biochemie, 1966, Volume: 4, Issue:3

    Topics: Carbon Dioxide; Carbon Isotopes; Chemistry, Clinical; Galactose; Galactosemias; Heterozygote; Hexosephosphates; Humans; Leukocytes; Manometry; Molecular Biology; NAD; Nucleotidyltransferases; Spectrophotometry; Uracil Nucleotides

1966
[Studies on the enzymatic determination of galactose with galactose oxidase].
    Zeitschrift fur klinische Chemie und klinische Biochemie, 1967, Volume: 5, Issue:4

    Topics: Acetates; Alcohol Oxidoreductases; Aniline Compounds; Barbiturates; Blood Chemical Analysis; Buffers; Chemistry, Clinical; Galactose; Galactosemias; Glutathione; Perchlorates; Peroxidases; Uric Acid

1967
Studies on myo-inositol metabolism in galactosemia.
    Annals of the New York Academy of Sciences, 1969, Oct-17, Volume: 165, Issue:2

    Topics: Adenosine Triphosphate; Aging; Alcohols; Alkaline Phosphatase; Animals; Brain; Carbon Isotopes; Dietary Carbohydrates; Galactose; Galactosemias; Glucose; Glucosephosphate Dehydrogenase; Hexokinase; Hexosephosphates; Inositol; Microsomes; NAD; Phosphoric Monoester Hydrolases; Rats; Time Factors

1969
[Enzymatic galactose determination without deproteinization and centrifugation in very small blood samples (10 mul)].
    Klinische Wochenschrift, 1970, Jan-01, Volume: 48, Issue:1

    Topics: Blood Glucose; Child; Galactose; Galactosemias; Humans; Methods; NAD; Oxidoreductases

1970
[Hereditary defects of fructose and galactose metabolism].
    Monatsschrift fur Kinderheilkunde, 1973, Volume: 121, Issue:5

    Topics: Adult; Biopsy; Carbohydrate Metabolism, Inborn Errors; Female; Fructose; Fructose-Bisphosphatase; Fructose-Bisphosphate Aldolase; Galactose; Galactosemias; Genetics, Medical; Humans; Infant; Infant, Newborn; Isomerases; Liver; Male; Pedigree; Phosphotransferases; Uridine Diphosphate Sugars

1973
Galactokinase deficiency in twins: clinical and biochemical studies.
    Pediatrics, 1974, Volume: 53, Issue:3

    Topics: Carbohydrate Metabolism, Inborn Errors; Carbon Radioisotopes; Cataract; Diet Therapy; Dietary Carbohydrates; Diseases in Twins; Erythrocytes; Female; Galactose; Galactosemias; Humans; Infant; Infant Food; Nucleotidyltransferases; Oxidative Phosphorylation; Phosphotransferases

1974
A fluorescent spot test for the detection of galactokinase deficiency.
    Clinica chimica acta; international journal of clinical chemistry, 1974, Mar-15, Volume: 51, Issue:2

    Topics: Adult; Cataract; Drug Stability; Evaluation Studies as Topic; Fluorides; Galactose; Galactosemias; Humans; Infant, Newborn; Mass Screening; Methods; Phosphotransferases; Spectrometry, Fluorescence; Time Factors

1974
[The family of a patient with galactokinase-defect 2nd communication (author's transl)].
    Klinische Padiatrie, 1974, Volume: 186, Issue:1

    Topics: Adult; Age Factors; Alleles; Cataract; Child; Female; Galactose; Galactosemias; Hemoglobins; Heterozygote; Homozygote; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Pedigree; Phosphotransferases; Pregnancy; Twins

1974
[Galactosemia: detection of galactokinase deficiency].
    Comptes rendus des seances de la Societe de biologie et de ses filiales, 1973, Volume: 167, Issue:6

    Topics: Carbon Radioisotopes; Chromatography, Paper; Erythrocytes; Galactose; Galactosemias; Hemolysis; Heterozygote; Humans; Phosphotransferases

1973
[Enzymatic methods for the diagnosis of galactosemia and galactose deficiency].
    Klinische Wochenschrift, 1970, Apr-01, Volume: 48, Issue:7

    Topics: Clinical Enzyme Tests; Deficiency Diseases; Galactose; Galactosemias; Glucokinase; Hexosyltransferases; Humans; Isomerases; NADP; Transferases

1970
Experience of routine live-birth screening for galactosaemia in a British hospital, with emphasis on heterozygote detection.
    Archives of disease in childhood, 1972, Volume: 47, Issue:251

    Topics: Erythrocytes; Female; Galactose; Galactosemias; Gene Frequency; Heterozygote; Humans; Infant, Newborn; Male; Mass Screening; Methylene Blue; NADP; Nucleotidyltransferases; United Kingdom

1972
Improved method of mass-screening for galactosemia.
    Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 39, Issue:1

    Topics: Ammonium Sulfate; Chromatography, Paper; Fluorescence; Galactose; Galactosemias; Heterozygote; Humans; Infant, Newborn; Mass Screening; Methods; NADP; Nucleoside Diphosphate Sugars; Nucleotidyltransferases; Uracil Nucleotides

1972
Effect of ethanol and fructose on galactose elimination in rat.
    Scandinavian journal of clinical and laboratory investigation, 1974, Volume: 34, Issue:1

    Topics: Adenosine Diphosphate; Adenosine Monophosphate; Adenosine Triphosphate; Animals; Depression, Chemical; Ethanol; Fasting; Female; Fructose; Galactose; Galactosemias; Glucose; Lactates; Liver; Nephrectomy; Pyruvates; Rats

1974
Study of a family with both galactosemic and Duarte variants of galactose-1-phospho uridyl transferase.
    Biochemical medicine, 1974, Volume: 11, Issue:1

    Topics: Alleles; Blood Protein Electrophoresis; Cells, Cultured; Erythrocytes; Female; Fibroblasts; Galactose; Galactosemias; Genetic Variation; Heterozygote; Hexosephosphates; Humans; Infant, Newborn; Male; Nucleotidyltransferases; Pedigree; Uracil Nucleotides

1974
[Diagnosis of galactosemia].
    Orvosi hetilap, 1974, Oct-27, Volume: 115, Issue:43

    Topics: Galactose; Galactosemias; Humans; Hypoglycemia; Infant; Transferases

1974
Aspects of galactose metabolism in normal and galactosemic cell cultures.
    The Medical annals of the District of Columbia, 1972, Volume: 41, Issue:4

    Topics: Cell Line; Fibroblasts; Galactose; Galactosemias; Humans

1972
Re-evaluation of a galactosemic family by enzymatic and electrophoretic methods.
    The Journal of pediatrics, 1973, Volume: 83, Issue:3

    Topics: Adolescent; Adult; Clinical Enzyme Tests; Electrophoresis, Starch Gel; Escherichia coli; Female; Galactose; Galactosemias; Humans; Male; Nucleotidyltransferases; Phosphotransferases; Uracil Nucleotides

1973
Human galactose 1-phosphate uridyltransferase. Purification, antibody production, and comparison of the wild type, Duarte variant, and galactosemic gene products.
    The Journal of biological chemistry, 1972, Oct-25, Volume: 247, Issue:20

    Topics: Alleles; Animals; Chromatography, Gel; Cross Reactions; Dithiothreitol; Electrophoresis, Disc; Enzyme Activation; Erythrocytes; Galactose; Galactosemias; Genes; Genetics, Medical; Hexosephosphates; Humans; Hydrogen-Ion Concentration; Immunodiffusion; Kinetics; Liver; Molecular Weight; Nucleotidyltransferases; Precipitin Tests; Rabbits; Uridine Diphosphate Sugars

1972
A study of galactokinase and glucose 4-epimerase from normal and galactosemic skin fibroblasts.
    Biochimica et biophysica acta, 1972, Oct-12, Volume: 284, Issue:2

    Topics: Carbohydrate Epimerases; Cells, Cultured; Drug Stability; Fibroblasts; Galactose; Galactosemias; Glucose; Humans; Hydrogen-Ion Concentration; Kinetics; Phosphotransferases; Temperature; Uridine Diphosphate Sugars

1972
[Value of various modifications of the oral galactose tolerance test as an indicator of liver function].
    Zeitschrift fur die gesamte innere Medizin und ihre Grenzgebiete, 1972, Jul-01, Volume: 27, Issue:13

    Topics: Acute Disease; Administration, Oral; Chronic Disease; Fatty Liver; Galactose; Galactosemias; Hepatitis; Humans; Liver Cirrhosis; Liver Diseases; Liver Function Tests; Methods

1972
[Oral galactose tolerance test for the testing of intestinal absorption?].
    Medizinische Klinik, 1972, Oct-27, Volume: 67, Issue:43

    Topics: Administration, Oral; Adult; Capillaries; Female; Galactose; Galactosemias; Humans; Intestinal Absorption; Malabsorption Syndromes; Male

1972
Galactokinase-deficiency cataracts in identical twins.
    American journal of ophthalmology, 1972, Volume: 74, Issue:5

    Topics: Cataract; Diseases in Twins; Erythrocytes; Female; Galactose; Galactosemias; Humans; Infant; Metabolism, Inborn Errors; Phosphotransferases

1972
Plasma insulin and growth hormone in galactosemia.
    Hormones, 1972, Volume: 3, Issue:4

    Topics: Child, Preschool; Diet Therapy; Female; Galactose; Galactosemias; Glucose Tolerance Test; Growth Hormone; Hematocrit; Humans; Insulin; Radioimmunoassay; Time Factors

1972
Absorption of lactulose in man.
    Digestion, 1972, Volume: 6, Issue:3

    Topics: Adult; Blood Glucose; Chromatography, Thin Layer; Disaccharides; Female; Galactose; Galactosemias; Glucose; Glycosuria; Humans; Intestinal Absorption; Lactates; Male; Middle Aged

1972
[Gene frequency of hereditary galactosemia with reference to the Duarte variant].
    Zeitschrift fur Kinderheilkunde, 1972, Volume: 113, Issue:3

    Topics: Adolescent; Adult; Austria; California; Child; Child, Preschool; Clinical Enzyme Tests; Diagnosis, Differential; Erythroblastosis, Fetal; Female; Galactose; Galactosemias; Gene Frequency; Germany, West; Heterozygote; Hexosephosphates; Homozygote; Humans; Infant; Infant, Newborn; Middle Aged; Nucleotidyltransferases; Pregnancy; Sepsis; Uracil Nucleotides

1972
Normal pregnancy and childbirth in a galactosemic woman.
    The Journal of pediatrics, 1972, Volume: 81, Issue:6

    Topics: Amniotic Fluid; Black or African American; Erythrocytes; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Labor, Obstetric; Male; Nucleotidyltransferases; Phosphotransferases; Placenta; Pregnancy

1972
Detection of inborn errors of metabolism: galactosemia.
    Science (New York, N.Y.), 1973, Mar-16, Volume: 179, Issue:4078

    Topics: Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Carbon Dioxide; Carbon Isotopes; Cells, Cultured; Cystic Fibrosis; Female; Fibroblasts; Galactose; Galactosemias; Gangliosides; Humans; Infant; Kinetics; Lactones; Lipid Metabolism, Inborn Errors; Male; Pregnancy; Prenatal Diagnosis; Skin; Tritium

1973
Galactitol accumulation and irreversible lens opacities in galactosemic rats.
    Investigative ophthalmology, 1973, Volume: 12, Issue:1

    Topics: Animals; Cataract; Dietary Carbohydrates; Galactitol; Galactose; Galactosemias; Lens, Crystalline; Male; Rats; Remission, Spontaneous; Sugar Alcohols; Time Factors

1973
Galactokinase deficiency as a cause of cataracts.
    The New England journal of medicine, 1973, Jun-07, Volume: 288, Issue:23

    Topics: Adolescent; Adult; Age Factors; Cataract; Child; Child, Preschool; Diet Therapy; Dietary Carbohydrates; Erythrocytes; Galactose; Galactosemias; Heterozygote; Humans; Infant; Infant, Newborn; Middle Aged; Nucleotidyltransferases; Phosphotransferases

1973
The lens, cataracts, and galactosemia.
    The New England journal of medicine, 1973, Jun-07, Volume: 288, Issue:23

    Topics: Cataract; Diet Therapy; Erythrocytes; Galactose; Galactosemias; Heterozygote; Humans; Infant; Infant, Newborn; Lens, Crystalline; Nucleotidyltransferases; Phosphotransferases

1973
Urinary galactitol in galactosemic patients.
    Biochemical medicine, 1973, Volume: 7, Issue:2

    Topics: Diet; Dietary Proteins; Erythrocytes; Galactitol; Galactose; Galactosemias; Humans; Phosphates; Sugar Alcohols; Time Factors

1973
[Influence of dihydroergotamine on the induced galactosemia-galactosuria test].
    Revue medicale de Liege, 1973, May-01, Volume: 28, Issue:9

    Topics: Adult; Ergotamine; Female; Galactose; Galactosemias; Glucose; Humans; Liver; Male

1973
Pitfalls in the diagnosis of galactosemia.
    The Journal of pediatrics, 1973, Volume: 83, Issue:3

    Topics: Clinical Enzyme Tests; Diagnostic Errors; Erythrocytes; Galactose; Galactosemias; Genetic Counseling; Genotype; Humans; Transferases

1973
The metabolism of galactose by galactosemic fibroblasts in vitro.
    Biochimica et biophysica acta, 1973, Jun-20, Volume: 313, Issue:1

    Topics: Biological Transport; Carbon Radioisotopes; Cell Line; Chromatography, Paper; Fibroblasts; Galactose; Galactosemias; Glucose; Heterozygote; Hexosephosphates; Humans; Isotope Labeling; Skin; Time Factors

1973
Effect of ethanol on the rate of elimination of galactose in women during the puerperium.
    Annals of clinical research, 1973, Volume: 5, Issue:2

    Topics: Administration, Oral; Adult; Depression, Chemical; Ethanol; Female; Galactose; Galactosemias; Humans; Lactation; Postpartum Period; Pregnancy; Time Factors

1973
[Hepatic galactose elimination lapacity in chronic renal insufficiency (author's transl)].
    Klinische Wochenschrift, 1973, Sep-15, Volume: 51, Issue:18

    Topics: Female; Galactose; Galactosemias; Humans; Kidney Failure, Chronic; Liver; Renal Dialysis; Uremia

1973
The diagnostic value of the inhibitory effect of ethanol on galactose elimination in liver disease.
    Acta medica Scandinavica, 1973, Volume: 194, Issue:6

    Topics: Adult; Aged; Alcoholism; Biopsy; Depression, Chemical; Ethanol; Fatty Liver; Female; Galactose; Galactosemias; Half-Life; Humans; Liver; Liver Cirrhosis; Male; Middle Aged

1973
[Galactosemia: detection of galactose-phosphate-uridyltransferase deficiency].
    Comptes rendus des seances de la Societe de biologie et de ses filiales, 1973, Volume: 167, Issue:10

    Topics: Chromatography, DEAE-Cellulose; Chromatography, Paper; Chromatography, Thin Layer; Galactose; Galactosemias; Heterozygote; Hexosephosphates; Homozygote; Humans; Nucleotidyltransferases; Spectrometry, Fluorescence; Uracil Nucleotides

1973
Effect of galactose-ethanol feeding on growth in rats.
    The Journal of nutrition, 1974, Volume: 104, Issue:3

    Topics: Adenosine Diphosphate; Adenosine Monophosphate; Adenosine Triphosphate; Analysis of Variance; Animals; Body Weight; Diet; Disease Models, Animal; Ethanol; Galactose; Galactosemias; Growth; Hexosediphosphates; Hexosephosphates; Liver; Rats; Uridine Diphosphate Sugars

1974
Letter: Galactosemia and galactonolactone: further biochemical observations.
    Science (New York, N.Y.), 1974, Feb-22, Volume: 183, Issue:4126

    Topics: Amniocentesis; Amniotic Fluid; Autoradiography; Fibroblasts; Galactose; Galactosemias; Humans; Hydrogen-Ion Concentration; Lactones; Sugar Acids; Tritium

1974
Letter: Negative urine sugars in galactosemia.
    Pediatrics, 1974, Volume: 53, Issue:5

    Topics: Adolescent; Cataract; Galactose; Galactosemias; Hexosephosphates; Humans; Infant; Nucleotidyltransferases; Uracil Nucleotides

1974
Interference with growth of galactokinase-less Escherichia coli mutants by galactose.
    Archives of biochemistry and biophysics, 1967, Volume: 120, Issue:1

    Topics: Escherichia coli; Galactose; Galactosemias; Genetics, Microbial; Molecular Biology; Mutation; Phosphotransferases

1967
Galactosemia screening of newborns in Massachusetts.
    The New England journal of medicine, 1971, Apr-08, Volume: 284, Issue:14

    Topics: Biological Assay; Clinical Enzyme Tests; Erythrocytes; Escherichia coli Infections; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Mass Screening; Massachusetts; Methods; Nucleotidyltransferases

1971
Bacterial virus gene expression in human cells.
    Nature, 1971, Oct-08, Volume: 233, Issue:5319

    Topics: Bacteriophages; Cell Line; Cells, Cultured; Chromatography; Fibroblasts; Galactose; Galactosemias; Genes; Genetic Code; Humans; Nucleotidyltransferases; RNA, Viral; Transduction, Genetic

1971
A patient with hereditary galactosemia studied with a screening method for galactose in urine.
    Acta paediatrica Scandinavica, 1969, Volume: 58, Issue:3

    Topics: Amino Acids; Cerebrospinal Fluid; Chromatography, Paper; Diet Therapy; Electroencephalography; Erythrocytes; Exchange Transfusion, Whole Blood; Galactose; Galactosemias; Glycosuria; Humans; Infant; Infant, Newborn; Male; Methods; Parenteral Nutrition; Phenylalanine; RNA Nucleotidyltransferases; Spinal Puncture; Time Factors

1969
[Metabolic kinetics of galactose in children].
    Deutsche medizinische Wochenschrift (1946), 1972, Mar-24, Volume: 97, Issue:12

    Topics: Adult; Age Factors; Body Weight; Capillaries; Child; Child, Preschool; Galactose; Galactosemias; Hepatitis A; Humans; Infant; Infant, Newborn; Injections, Intravenous; Liver; Time Factors

1972
Uridine diphosphoglucose pyrophosphorylase and uridine diphosphogalactose pyrophosphorylase in human skin fibroblasts derived from normal and galactosemic individuals.
    Biochimica et biophysica acta, 1972, Apr-07, Volume: 268, Issue:1

    Topics: Biopsy; Cells, Cultured; Drug Stability; Electrophoresis, Starch Gel; Fibroblasts; Galactose; Galactosemias; Glucosephosphates; Hexosephosphates; Hot Temperature; Humans; Hydrogen-Ion Concentration; Kinetics; Nucleoside Diphosphate Sugars; Nucleotidyltransferases; Skin; Time Factors; Uracil Nucleotides

1972
A study of erythrocyte life-span in galactosemia using Cr 51 .
    The Journal of pediatrics, 1972, Volume: 80, Issue:5

    Topics: Chromium Isotopes; Erythrocyte Aging; Erythrocytes; Galactose; Galactosemias; Half-Life; Humans; Infant, Newborn; Male

1972
[Micromethods for the determination of galactose and fructose in blood].
    Das Medizinische Laboratorium, 1972, Volume: 25, Issue:2

    Topics: Carbohydrate Metabolism, Inborn Errors; Child, Preschool; Diabetes Mellitus; Diagnosis, Differential; Fructose; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Methods

1972
Galactose toxicity in the chick: hyperosmolality or depressed brain energy reserves?
    Science (New York, N.Y.), 1972, May-19, Volume: 176, Issue:4036

    Topics: Adenosine Triphosphate; Administration, Oral; Animals; Blood Glucose; Brain; Brain Chemistry; Carbon Isotopes; Chickens; Fructosephosphates; Galactose; Galactosemias; Glucose; Injections, Intraperitoneal; Lactates; Osmolar Concentration; Phosphocreatine; Time Factors

1972
[Determination of galactose-1-phosphate-uridyl-transferase activity in children with galactosemia and their relatives].
    Padiatrie und Grenzgebiete, 1972, Volume: 11, Issue:1

    Topics: Child; Clinical Enzyme Tests; Female; Galactose; Galactosemias; Humans; Male; Nucleotidyltransferases; Pedigree; Uracil Nucleotides

1972
Decreased uptake of glucose by brain of the galactose toxic chick.
    Brain research, 1972, Aug-25, Volume: 43, Issue:2

    Topics: Adenosine Triphosphate; Animals; Biological Transport, Active; Brain; Carbon Isotopes; Chickens; Disease Models, Animal; Galactose; Galactosemias; Glucose

1972
Galactose utilization in galactosemia.
    Science (New York, N.Y.), 1972, Mar-24, Volume: 175, Issue:4028

    Topics: Carbon Dioxide; Carbon Isotopes; Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Glucose; Humans

1972
[Galactosemia, generally with a fulminating course. 10 cases found through an early detection program].
    Wiener klinische Wochenschrift, 1972, Feb-11, Volume: 84, Issue:6

    Topics: Austria; Blood Transfusion; Deficiency Diseases; Diagnosis, Differential; Diet Therapy; Dietary Carbohydrates; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Nucleotidyltransferases; Time Factors

1972
A Duarte variant with clinical signs.
    Journal of medical genetics, 1972, Volume: 9, Issue:1

    Topics: Electrophoresis, Starch Gel; Fluorescence; Galactose; Galactosemias; Hepatomegaly; Heterozygote; Homozygote; Humans; Infant; Infant, Newborn; Isoenzymes; Jaundice, Neonatal; Male; Nucleotidyltransferases; Phenotype

1972
Detection of some clinically important carbohydrates in plasma and urine by means of thin-layer chromatography.
    Clinica chimica acta; international journal of clinical chemistry, 1971, Volume: 32, Issue:3

    Topics: Arabinose; Blood Glucose; Carbohydrates; Chemistry, Clinical; Chromatography, Thin Layer; Diabetes Mellitus; Fructose; Galactose; Galactosemias; Glycosuria; Humans; Lactose; Lactose Intolerance; Methods; Pentoses; Ribose

1971
Lactose absorption and mucosal disaccharidases in convalescent pellagra and kwashiorkor children.
    Archives of disease in childhood, 1971, Volume: 46, Issue:248

    Topics: Animals; Biopsy; Blood Glucose; Child; Child, Preschool; Convalescence; Diarrhea; Diet; Female; Galactose; Galactosemias; Glucose; Glycoside Hydrolases; Humans; Infant; Intestinal Absorption; Intestinal Mucosa; Intestine, Small; Kwashiorkor; Lactose; Male; Milk; Pellagra; Sucrase

1971
[Early diagnosis of congenital metabolic diseases].
    Revista clinica espanola, 1971, Jun-30, Volume: 121, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biological Assay; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Methods; Pregnancy

1971
A fluorometric method for the assay of galactose-1-phosphate in red blood cells.
    The Journal of laboratory and clinical medicine, 1971, Volume: 78, Issue:6

    Topics: Alcohol Oxidoreductases; Alkaline Phosphatase; Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Erythrocytes; Fluorometry; Galactose; Galactosemias; Hexosephosphates; Humans; Methods; Nucleotidyltransferases; Phosphotransferases; Spectrophotometry

1971
[An unusual form of galactose metabolism disorder].
    Orvosi hetilap, 1971, Dec-19, Volume: 112, Issue:51

    Topics: Cataract; Child, Preschool; Diagnosis, Differential; Female; Galactose; Galactosemias; Hexosephosphates; Humans; Metabolism, Inborn Errors; Phosphorus; Phosphotransferases

1971
[Effect of vasopressin on galactose distribution in eviscerated, hepatectomized and nephrectomized dogs].
    Journal de physiologie, 1971, Volume: 63, Issue:6

    Topics: Animals; Dogs; Galactose; Galactosemias; Hepatectomy; Insulin; Intestines; Nephrectomy; Vasopressins

1971
[Activity of galaktose-1-phosphate-uridyltransferase in erythrozytes of galactosemia heterocygotes of different ages (author's transl)].
    Padiatrie und Padologie, 1971, Volume: 6, Issue:3

    Topics: Adult; Child; Child, Preschool; Erythrocytes; Female; Galactose; Galactosemias; Heterozygote; Humans; Infant; Infant, Newborn; Male; Nucleotidyltransferases; Uracil Nucleotides

1971
[Screening test for galactosemia (author's transl)].
    Zeitschrift fur klinische Chemie und klinische Biochemie, 1971, Volume: 9, Issue:6

    Topics: Blood Sedimentation; Clinical Enzyme Tests; Fluorescence; Galactose; Galactosemias; Humans; Iontophoresis

1971
Enzyme kinetics in mammalian cells. I. Rate constants for galactose metabolism in erythrocytes of normal galactosemic, and heterozygous subjects.
    Proceedings of the National Academy of Sciences of the United States of America, 1967, Volume: 57, Issue:6

    Topics: Carbon Isotopes; Erythrocytes; Galactose; Galactosemias; Hexosephosphates; Humans; In Vitro Techniques; Kinetics; Molecular Biology; Nucleotidyltransferases; Phosphotransferases; Uracil Nucleotides

1967
[Metabolism of galactose in children].
    Annales Academiae Medicae Stetinensis, 1969, Volume: 15

    Topics: Adolescent; Animals; Cerebral Hemorrhage; Child; Child, Preschool; Diabetes Mellitus, Type 1; Female; Galactose; Galactosemias; Glycogen Storage Disease; Humans; Hypothyroidism; Infant; Infant, Newborn; Lactose; Male; Milk

1969
[Insulin secretion following carbohydrate administration].
    Zeitschrift fur Ernahrungswissenschaft. Journal of nutritional sciences. Supplementa, 1971, Volume: 11

    Topics: Administration, Oral; Blood Glucose; Capillaries; Fatty Acids, Nonesterified; Galactose; Galactosemias; Glucose; Humans; Infusions, Parenteral; Insulin; Insulin Secretion; Intestinal Absorption; Xylitol

1971
Effect of galactose toxicity on growth of the rat fetus and brain.
    Pediatric research, 1969, Volume: 3, Issue:5

    Topics: Animals; Body Weight; Brain; Brain Chemistry; Dietary Carbohydrates; DNA; Embryonic and Fetal Development; Female; Galactose; Galactosemias; Gestational Age; Growth Disorders; Maternal-Fetal Exchange; Organ Size; Phosphates; Pregnancy; Pregnancy Complications; Proteins; Rats

1969
Fluorometric screening procedure for galactosemia utilizing the autoanalyzer.
    Clinical chemistry, 1969, Volume: 15, Issue:10

    Topics: Autoanalysis; Equipment and Supplies; Female; Fluorometry; Galactose; Galactosemias; Humans; Indicators and Reagents; Infant, Newborn; Male; Mass Screening; Methods; Nucleotidyltransferases; Phenylalanine; Time Factors

1969
[Analogue computer analysis of the effect of insulin on the metabolism of galactose in humans].
    Zeitschrift fur klinische Chemie und klinische Biochemie, 1969, Volume: 7, Issue:3

    Topics: Adult; Computers, Analog; Galactose; Galactosemias; Humans; Insulin; Intestinal Absorption; Intestine, Small; Male; Models, Biological; Stimulation, Chemical; Stomach

1969
[Automated enzymatic determination of galactose in whole blood].
    Zeitschrift fur klinische Chemie und klinische Biochemie, 1969, Volume: 7, Issue:4

    Topics: Alcohol Oxidoreductases; Analysis of Variance; Autoanalysis; Blood Chemical Analysis; Galactose; Galactosemias; Methods

1969
[Relation between galactose and the crystalline lens].
    Documenta ophthalmologica. Advances in ophthalmology, 1969, Volume: 26

    Topics: Cataract; Galactose; Galactosemias; Humans; Lens, Crystalline; Nucleotidyltransferases; Phosphates; Phosphotransferases

1969
[From genes to enzymes: galactosemia].
    La Presse medicale, 1969, Oct-22, Volume: 77, Issue:44

    Topics: Blood Glucose; Cataract; Diet Therapy; Galactose; Galactosemias; Humans; Kidney Diseases; Liver Cirrhosis; Liver Function Tests; Proteinuria

1969
Glucose-galactose malabsorption. A clinical study of 6 cases.
    Acta paediatrica Scandinavica, 1969

    Topics: Adult; Birth Weight; Blood Glucose; Blood Proteins; Carbohydrate Metabolism, Inborn Errors; Chromatography, Paper; Diarrhea, Infantile; Disaccharides; Electrolytes; Female; Fever; Galactose; Galactosemias; Glucose Tolerance Test; Glycosuria; Hemoglobins; Humans; Infant; Infant, Newborn; Intestinal Absorption; Malabsorption Syndromes; Male

1969
[Clinical and morphological findings in during galactosemia].
    Monatsschrift fur Kinderheilkunde, 1969, Volume: 117, Issue:1

    Topics: Autopsy; Biopsy; Carbohydrate Metabolism, Inborn Errors; Diagnosis, Differential; Diet Therapy; Erythroblastosis, Fetal; Female; Galactose; Galactosemias; Heterozygote; Homozygote; Humans; Infant; Liver Cirrhosis, Biliary; Liver Regeneration; Male; Nucleotidyltransferases; Pregnancy

1969
[Mass testing of newborn infants for galactosemia and galactose deficiency].
    Hippokrates, 1970, Volume: 41, Issue:2

    Topics: Deficiency Diseases; Galactose; Galactosemias; Humans; Infant, Newborn; Mass Screening; Methods

1970
Long-term follow-up of galactosaemia.
    Archives of disease in childhood, 1970, Volume: 45, Issue:241

    Topics: Adolescent; Body Height; Child; Child Development; Child, Preschool; Diet Therapy; Female; Follow-Up Studies; Galactose; Galactosemias; Growth; Health; Humans; Intelligence Tests; Learning Disabilities; Male; Social Adjustment

1970
Suspending agents in medicaments as possible sources of galactose to galactosaemic child.
    Archives of disease in childhood, 1970, Volume: 45, Issue:241

    Topics: Agar; Amylases; Bacteria; Carrageenan; Child; Chromatography, Thin Layer; Food Analysis; Galactose; Galactosemias; Gastroenteritis; Glycoside Hydrolases; Humans; Resins, Plant; Suspensions

1970
Characteristics of galactose-1-phosphate uridyl transferase in intestinal mucosa of normal and galactosemic humans.
    Metabolism: clinical and experimental, 1970, Volume: 19, Issue:9

    Topics: Adult; Black or African American; Child, Preschool; Female; Galactose; Galactosemias; Heterozygote; Humans; Hydrogen-Ion Concentration; Infant; Intestinal Mucosa; Intestine, Small; Jejunum; Kinetics; Liver; Male; Nucleotidyltransferases

1970
Differences in concentration of galactose in arterial, capillary, and venous blood following a single intravenous injection.
    Scandinavian journal of clinical and laboratory investigation, 1970, Volume: 26, Issue:3

    Topics: Adult; Aged; Arteries; Capillaries; Female; Galactose; Galactosemias; Humans; Injections, Intravenous; Liver Cirrhosis; Male; Middle Aged; Veins

1970
[Galactosemia urine--screening with test paper].
    Lakartidningen, 1970, Sep-30, Volume: 67, Issue:40

    Topics: False Positive Reactions; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Methods; Time Factors

1970
A patient with hereditary galactokinase deficiency.
    Acta paediatrica Scandinavica, 1970, Volume: 59, Issue:6

    Topics: Diet Therapy; Erythrocytes; Eye Manifestations; Galactose; Galactosemias; Humans; Infant, Newborn; Male; Nucleotidyltransferases; Phosphotransferases

1970
The relationship of galactose-1-phosphate accumulation and uridyl transferase activity to the differential galactose toxicity in male and female chicks.
    Biochemical and biophysical research communications, 1970, May-22, Volume: 39, Issue:4

    Topics: Animals; Brain; Chickens; Dietary Carbohydrates; Female; Galactose; Galactosemias; Hexosephosphates; Isomerases; Liver; Male; Nucleotidyltransferases; Phosphotransferases; Sex Factors; Uracil Nucleotides

1970
[Endocrine regulation of the galactose metabolism].
    Die Medizinische Welt, 1970, Sep-05, Volume: 36

    Topics: Computers, Analog; Endocrine System Diseases; Galactose; Galactosemias; Humans; Insulin

1970
[Secondary results of a Guthrie test programm. Galactose blood level in children of various ages following approximate physiologic galactose administrations].
    Monatsschrift fur Kinderheilkunde, 1970, Volume: 118, Issue:6

    Topics: Adolescent; Adult; Age Factors; Body Weight; Child; Child, Preschool; Galactose; Galactosemias; Glucokinase; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Transferases

1970
Yogurt-induced cataracts: comments on their significance to man.
    JAMA, 1970, Dec-07, Volume: 214, Issue:10

    Topics: Cataract; Dairy Products; Dietary Fats; Galactose; Galactosemias; Humans

1970
[Galactosemia as based on the records of Department I of Pediatrics of the Silesian Medical Academy].
    Pediatria polska, 1971, Volume: 46, Issue:2

    Topics: Body Weight; Cataract; Child, Preschool; Female; Galactose; Galactosemias; Hepatomegaly; Heterozygote; Homozygote; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Pedigree; Splenomegaly

1971
Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred.
    The American journal of medicine, 1971, Volume: 50, Issue:3

    Topics: Adult; Aged; Carbohydrate Metabolism, Inborn Errors; Cataract; Child; Erythrocytes; Female; Galactose; Galactosemias; Genes, Recessive; Humans; Male; Pedigree; Phosphotransferases; United States

1971
Liver failure in galactosemia successfully treated by exchange blood transfusion.
    Canadian Medical Association journal, 1971, Aug-07, Volume: 105, Issue:3

    Topics: Ascites; Cholestasis; Edema; Exchange Transfusion, Whole Blood; Galactose; Galactosemias; Hepatomegaly; Humans; Infant, Newborn; Infant, Newborn, Diseases; Liver; Liver Diseases; Male

1971
Childbearing by a galactosemic woman.
    The Journal of pediatrics, 1971, Volume: 78, Issue:6

    Topics: Alcohols; Amino Acids; Amniotic Fluid; Colostrum; Female; Fructose; Galactose; Galactosemias; Glucose; Glycosuria; Homozygote; Humans; Infant, Newborn; Lactose; Male; Nucleotidyltransferases; Pregnancy; Pregnancy Complications; Sucrose

1971
Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.
    Helvetica paediatrica acta, 1967, Volume: 22, Issue:3

    Topics: Adult; Blood Glucose; Chromatography, Gas; Deficiency Diseases; Electrophoresis; Female; Galactose; Galactosemias; Gels; Humans; Infant, Newborn; Male; Nucleotidyltransferases; Pedigree; Starch

1967
[Galactose malabsorption in adulthood].
    Klinische Wochenschrift, 1967, Jun-01, Volume: 45, Issue:11

    Topics: Adult; Galactose; Galactosemias; Humans; Lactose; Malabsorption Syndromes; Male; Middle Aged

1967
UDP-glucose: alpha-D-galactose-1-phosphate uridylytransferase activity in cultured human fibroblasts.
    Biochemical genetics, 1967, Volume: 1, Issue:1

    Topics: Carbon Isotopes; Clinical Enzyme Tests; Culture Techniques; Cysteine; Fibroblasts; Galactose; Galactosemias; Glucose; Heterozygote; Homozygote; Humans; Hydrogen-Ion Concentration; Kinetics; Nucleotidyltransferases; Uracil Nucleotides

1967
[Galactose metabolism disturbance in juvenile cataracts].
    Munchener medizinische Wochenschrift (1950), 1967, Feb-03, Volume: 109, Issue:5

    Topics: Adolescent; Adult; Cataract; Child; Female; Galactose; Galactosemias; Humans; Lens, Crystalline; Male; Middle Aged

1967
The transport of 14C-alpha-aminoisobutyric acid in galactose cataracts in rats and rabbit lenses incubated in high galactose media.
    Investigative ophthalmology, 1968, Volume: 7, Issue:1

    Topics: Aminoisobutyric Acids; Animals; Aqueous Humor; Biological Transport; Carbon Isotopes; Cataract; Galactose; Galactosemias; Glucose; In Vitro Techniques; Lens, Crystalline; Rabbits; Rats

1968
The sorbitol pathway in diabetes and galactosemia: enzyme and sobstrate localization and changes in kidney.
    Diabetes, 1968, Volume: 17

    Topics: Alcohol Oxidoreductases; Animals; Diabetes Mellitus; Galactose; Galactosemias; Kidney; Nerve Tissue; Organ Size; Rats; Sorbitol

1968
[Carbohydrate composition of plant nutrients as the basis for the diet therapy of hereditary metabolic disorders].
    Klinische Wochenschrift, 1968, May-01, Volume: 46, Issue:9

    Topics: Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Chromatography, Paper; Diet Therapy; Food Analysis; Fruit; Galactose; Galactosemias; Humans; Lactose Intolerance; Malabsorption Syndromes; Plants, Edible; Sucrose; Vegetables

1968
Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn.
    Pediatrics, 1968, Volume: 42, Issue:3

    Topics: Animals; Breast Feeding; Diet; Female; Galactose; Galactosemias; Hepatomegaly; Humans; Infant, Newborn; Mass Screening; Milk; Phosphotransferases; Splenomegaly

1968
[Our present knowledge of galactosemia].
    Medizinische Klinik, 1968, May-17, Volume: 63, Issue:20

    Topics: Child; Diagnosis, Differential; Diet Therapy; Galactose; Galactosemias; Humans; Nucleotidyltransferases; Orotic Acid

1968
Sugars in blood and urine of milk-fed normal young infants.
    Scandinavian journal of clinical and laboratory investigation, 1968, Volume: 22, Issue:2

    Topics: Blood Glucose; Female; Galactose; Galactosemias; Glycosuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Lactose; Male; Mass Screening; Milk, Human

1968
Test paper for galactose in urine.
    Scandinavian journal of clinical and laboratory investigation, 1968, Volume: 22, Issue:2

    Topics: Adsorption; Alcohol Oxidoreductases; Aniline Compounds; Ascorbic Acid; Cellulose; Chemistry, Clinical; Chromatography, Paper; Equipment and Supplies; Galactose; Galactosemias; Glutathione; Humans; Infant, Newborn; Mass Screening; Methods; Methylcellulose; Paper; Peroxidases; Time Factors

1968
Human hepatic uridine diphosphate galactose pyrophosphorylase. Its characterization and activity during development.
    The Journal of biological chemistry, 1969, Feb-25, Volume: 244, Issue:4

    Topics: Age Factors; Carbon Isotopes; Cellulose; Chromatography, Ion Exchange; Galactose; Galactosemias; Hexosephosphates; Humans; Kinetics; Liver; Magnesium; Nucleotidyltransferases; Tritium; Uracil Nucleotides

1969
Lethal effect of feeding rats on galactose-ethanol.
    Nature, 1969, Apr-12, Volume: 222, Issue:5189

    Topics: Animals; Depression, Chemical; Dietary Carbohydrates; Ethanol; Fatty Liver; Female; Galactose; Galactosemias; Isomerases; Male; Models, Biological; Rats

1969
A note on some difficulties in the determination of galactose-1-phosphate in galactosaemia.
    Clinica chimica acta; international journal of clinical chemistry, 1969, Volume: 24, Issue:1

    Topics: Chromatography, Ion Exchange; Galactose; Galactosemias; Hexosephosphates; Ion Exchange Resins; Methods

1969
[Studies on a family with galactosemia].
    Deutsche medizinische Wochenschrift (1946), 1969, Volume: 94, Issue:2

    Topics: Body Weight; Chromatography, Thin Layer; Consanguinity; Female; Galactose; Galactosemias; Growth; Heterozygote; Humans; Infant; Infant, Newborn; Male; Nucleotidyltransferases; Pedigree

1969
[Galactosemia: 14C galactose metabolism in blood cells. Application to the detection of heterozygotes].
    Revue francaise d'etudes cliniques et biologiques, 1969, Volume: 14, Issue:1

    Topics: Autoradiography; Blood Cells; Carbon Dioxide; Carbon Isotopes; Chromatography; Galactose; Galactosemias; Heterozygote; Humans; Liver; Methods; Oxygen Consumption; Transferases

1969
Electrophoretic abnormality of galactose-1-phosphate uridyl transferase in galactosemia.
    Biochemical and biophysical research communications, 1969, May-22, Volume: 35, Issue:4

    Topics: Chemical Phenomena; Chemistry; Electrophoresis; Erythrocytes; Female; Galactose; Galactosemias; Hemolysis; Humans; Infant; Male; Nucleotidyltransferases; Uracil Nucleotides

1969
Galactose in the urine of newborn infants.
    The Journal of pediatrics, 1969, Volume: 75, Issue:3

    Topics: Alcohol Oxidoreductases; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infant, Premature; Jaundice, Neonatal; Male; Methods; Urine

1969
Formation of galactose-1-phosphate from uridine diphosphate galactose in erythrocytes from patients with galactosemia.
    Pediatric research, 1969, Volume: 3, Issue:4

    Topics: Carbon Isotopes; Chemical Phenomena; Chemistry; Chromatography; Culture Techniques; Erythrocytes; Galactose; Galactosemias; Glucosyltransferases; Hexosephosphates; Humans; Infant; Uracil Nucleotides

1969
Heterozygous state of galactosemia with clinical signs of the disease?
    Journal de genetique humaine, 1969, Volume: 17, Issue:1

    Topics: Adult; Cataract; Child, Preschool; Erythrocytes; Female; Galactose; Galactosemias; Heterozygote; Humans; Infant; Male; Oxygen Consumption

1969
Cataracts in galactosemia. The Jonas S. Friedenwald Memorial Lecture.
    Investigative ophthalmology, 1965, Volume: 4, Issue:5

    Topics: Adenosine Triphosphate; Alcohols; Amino Acids; Animals; Aqueous Humor; Cataract; Galactose; Galactosemias; Humans; Ion Exchange; Lens, Crystalline; Osmosis; Permeability; Potassium; Rats; Sodium

1965
Topical corticosteroids and galactose cataracts.
    Investigative ophthalmology, 1965, Volume: 4, Issue:5

    Topics: Alcohols; Animals; Betamethasone; Cataract; Fructose-Bisphosphate Aldolase; Galactose; Galactosemias; Ophthalmic Solutions; Radioisotopes; Rats; Rubidium

1965
[Galactosemia with liver damage as an enzyme defect in adults].
    Die Medizinische Welt, 1965, Jul-03, Volume: 27

    Topics: Female; Galactose; Galactosemias; Humans; Isomerases; Liver Diseases; Liver Function Tests; Middle Aged

1965
The distribution of galactitol in tissues of rats fed galactose.
    Biochemical and biophysical research communications, 1965, Aug-16, Volume: 20, Issue:4

    Topics: Alcohols; Animals; Blood; Blood Cells; Brain; Chromatography, Gas; Galactose; Galactosemias; In Vitro Techniques; Intestine, Small; Kidney; Lens, Crystalline; Liver; Muscles; Myocardium; Rats

1965
Observations on the influence of orotic acid on galactose metabolism in congenital galactosemia.
    The Journal of pediatrics, 1966, Volume: 68, Issue:1

    Topics: Animals; Carbon Isotopes; Cataract; Galactose; Galactosemias; Humans; Orotic Acid; Rats

1966
Orotic acid and experimental galactosemia.
    The Journal of pediatrics, 1966, Volume: 68, Issue:1

    Topics: Animals; Blood; Chromatography; Galactose; Galactosemias; Orotic Acid; Rats; Urine

1966
Alternate metabolic pathway in galactosemia. Observations in patient with galactosemia.
    American journal of diseases of children (1960), 1966, Volume: 111, Issue:4

    Topics: Adolescent; Carbon Isotopes; Chromatography, Gas; Galactose; Galactosemias; Glucose; Humans; Infant, Newborn; Male; Urine

1966
Galactitol in the tissues of a galactosemic child.
    American journal of diseases of children (1960), 1966, Volume: 112, Issue:5

    Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Male

1966
Galactose metabolism in the sea lion.
    Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1966, Volume: 123, Issue:2

    Topics: Animals; Carnivora; Drug Tolerance; Galactose; Galactosemias; Liver; Models, Theoretical; Nucleotidyltransferases

1966
Test paper for galactose in urine.
    Scandinavian journal of clinical and laboratory investigation. Supplementum, 1966, Volume: 18

    Topics: Alcohol Oxidoreductases; Chemistry, Clinical; Galactose; Galactosemias; Humans; Indicators and Reagents; Paper; Peroxidases

1966
[Galactoseuria].
    Lakartidningen, 1966, Oct-19, Volume: 63, Issue:42

    Topics: Galactose; Galactosemias; Humans

1966
Experimental galactosemia produces diabetic-like retinopathy.
    Diabetes, 1984, Volume: 33, Issue:1

    Topics: Amino Acids, Branched-Chain; Animals; Blood Glucose; Diabetes Mellitus, Experimental; Diabetic Retinopathy; Dogs; Fatty Acids, Nonesterified; Female; Galactosemias; Hexoses; Insulin; Male

1984
Effects of three microbial probiotics on postprandial porto-arterial concentration differences of glucose, galactose and amino-nitrogen in the young pig.
    The British journal of nutrition, 1995, Volume: 74, Issue:1

    Topics: Amino Acids; Animal Feed; Animals; Bacillus cereus; Bacteria; Blood Glucose; Digestion; Galactosemias; Hexoses; Kinetics; Lactates; Lactic Acid; Lactobacillus; Liver; Male; Nitrogen; Swine

1995
Glycoprotein metabolism in human renal disease: serum glycoproteins and glycoprotein: glycosyl transferase levels in chronic renal failure.
    The Journal of laboratory and clinical medicine, 1975, Volume: 86, Issue:5

    Topics: ABO Blood-Group System; Adolescent; Adult; beta-N-Acetylglucosaminylglycopeptide beta-1,4-Galactosyltransferase; Blood; Blood Platelets; Cations, Divalent; Child; Creatinine; Female; Galactosemias; Glycoproteins; Hexosamines; Hexoses; Hexosyltransferases; Hot Temperature; Humans; Kidney Failure, Chronic; Male; Middle Aged; Sialic Acids; Sialyltransferases; Urea

1975
Sugar transport in red blood cells.
    Methods in enzymology, 1989, Volume: 173

    Topics: Animals; Biological Transport, Active; Blood Glucose; Carbon Radioisotopes; Erythrocytes; Galactosemias; Hexoses; Humans; In Vitro Techniques; Kinetics; Rabbits; Radioisotope Dilution Technique

1989
Diabetic retinopathy: is it a consequence of hyperglycaemia?
    Diabetic medicine : a journal of the British Diabetic Association, 1985, Volume: 2, Issue:3

    Topics: Aldehyde Reductase; Animals; Diabetes Mellitus, Experimental; Diabetic Retinopathy; Disease Models, Animal; Dogs; Galactitol; Galactosemias; Hexoses; Hyperglycemia; Retina

1985
Determination of gangliosides, glycoproteins, and glycosaminoglycans in brain tissue.
    Clinica chimica acta; international journal of clinical chemistry, 1971, Volume: 32, Issue:2

    Topics: Acetates; Adult; Animals; Brain Chemistry; Brain Diseases; Cattle; Cerebral Cortex; Chemical Precipitation; Child; Child, Preschool; Chloroform; Chromatography, Gel; Dialysis; Electrophoresis; Fucose; Galactosemias; Gangliosides; Glycopeptides; Glycoproteins; Glycosaminoglycans; Hexosamines; Hexoses; Humans; Hydrogen-Ion Concentration; Lipidoses; Methanol; Methods; Myelin Sheath; Neuraminic Acids; Papain; Peptide Hydrolases; Pyridinium Compounds; Rats; Solubility; Subacute Sclerosing Panencephalitis; Temperature

1971
[Behavior of protein-bound and seromucoid hexoses in the course of some respiratory tract diseases].
    Gruzlica i choroby pluc; tuberculosis et pneumonologia, 1974, Volume: 42, Issue:12

    Topics: Blood Proteins; Galactosemias; Hexoses; Humans; Mannose; Mucoproteins; Protein Binding; Respiratory Tract Diseases

1974