galactose has been researched along with Classic Galactosemia in 767 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 468 (61.02) | 18.7374 |
1990's | 103 (13.43) | 18.2507 |
2000's | 87 (11.34) | 29.6817 |
2010's | 76 (9.91) | 24.3611 |
2020's | 33 (4.30) | 2.80 |
Authors | Studies |
---|---|
Arai-Ichinoi, N; Kikuchi, A; Kure, S; Wada, Y | 1 |
Ahn, Y; Bell, RD; Brophy, ML; Cheng, SH; Murphy, JE; Stansfield, JC | 1 |
Daenzer, JMI; Fridovich-Keil, JL; McKenna, J; Patel, S; Rasmussen, SA | 1 |
Andrews, A; Appiah, L; Hagen-Lillevik, S; Johnson, J; Lai, K; Longo, N; Rushing, JS | 1 |
De-Queiroz, ALFV; De-Souza, EA; Del Poeta, M; Fernandes, CM; Machado, CM; Masuda, CA; Montero-Lomeli, M; Pimentel, FSA; Silva, GFS | 1 |
Hu, OY; Huang, TY; Lau, JY; Shen, TY; Yang, P; Yu, KM | 1 |
Coelho, AI; Delnoy, B; Haskovic, M; Knoops, K; Lefeber, DJ; Martini, PGV; Noga, M; Rubio-Gozalbo, ME; Steinbusch, LKM; Vanoevelen, J; Vos, EN; Zimmermann, LJI | 1 |
Parenti, G; Rossi, A; Ruoppolo, M; Sacchettini, R; Succoio, M | 1 |
Hagen-Lillevik, S; Hale, G; Johnson, J; Lai, K; Persinger, J; Siddiqi, A | 1 |
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, MM | 1 |
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, A | 1 |
Hagen-Lillevik, S; Johnson, J; Lai, K | 1 |
Achim, AC; Badiu Tișa, I; Cozma-Petruț, A | 1 |
Boyle, F; Knerr, I; McNulty, J; Milner, D | 1 |
Blaauw, GF; Dolman-Macleod, RC; Van Niekerk, E | 1 |
Correcher, P; García-Peris, M; González-Lamuño, D; Melendreras, F; Rausell, D; Vázquez-Palazón, A; Vitoria, I | 1 |
Balduini, A; Bastida, JM; Benito, R; Di Buduo, CA; Marín-Quílez, A; Rivera, J | 1 |
Bailey, E; Burbridge, C; Perfetti, R; Raither, L; Randall, JA; Shendelman, S; Sutter, C; Wang, S | 1 |
Druss, JJ; Fridovich-Keil, JL; Potter, NL; Rudd Zhong Manis, J | 1 |
Chernoff, RA; Druss, JJ; Fridovich-Keil, JL; Garrett, OS; Hendrickson, ET; Orloff, DH; Paull, NH; Smith, NH; Stettner, NM | 1 |
Akouri, R; Demir, N; Erman, M; Gunduz, T; Ozekinci, M; Sozen, B | 1 |
Chhapan, RJ; Ramappa, M; Yerramneni, R | 1 |
Cerone, J; Rios, A | 1 |
An, D; Balakrishnan, B; DeAntonis, C; Lai, K; Martini, PGV; Nguyen, V | 1 |
Abidin, Z; Treacy, EP | 1 |
Cheng, LY; Hagen, T; Henke, W; J Zhou, JF; Oh, SL | 1 |
Berry, GT; Bierau, J; Coelho, AI; Haskovic, M; Rubio-Gozalbo, ME; Steinbusch, LKM; Vanoevelen, JM; Villamor-Martinez, E; Zimmermann, LJI | 1 |
Daenzer, JMI; Fridovich-Keil, JL; Geurts, AM; Head, ST; MacWilliams, JA; Rasmussen, SA; Schroeder, JP; Weinshenker, D; Williams, MB | 1 |
Delbrouck, J; Elling, L; Gottschalk, J; Grabany, S; Hanisch, FG; Janes, V; Vincent, SP | 1 |
Timson, DJ | 2 |
Bierau, J; Coelho, AI; Haskovic, M; Lefeber, DJ; Lindhout, M; Rubio-Gozalbo, ME; Vanoevelen, JM; Veizaj, R; Vos, R; Zijlstra, F | 1 |
Inoue, N; Irabu, H; Kaneko, S; Mizuta, M; Ohta, K; Shimizu, M; Yachie, A | 1 |
Almabayeva, A; Askarova, S; Bulanin, D; Masoud, AR; Saliev, T; Umbayev, B | 1 |
Daenzer, JMI; Fridovich-Keil, JL; Rasmussen, SA | 1 |
Dženkaitis, M; Kučinskienė, R; Labanauskas, L; Rokaitė, R; Traberg, R | 1 |
Banford, S; Timson, DJ | 1 |
Carlock, G; Fridovich-Keil, JL; MacWilliams, J; Patel, S; Potter, NL; Vest, S | 1 |
Behulova, D; Bzduch, V; Gerinec, A; Tomcikova, D | 1 |
Cutler, DJ; Frederick, AB; Fridovich-Keil, JL | 1 |
Chatzidaki, M; Dotsikas, Y; Iakovou, K; Loukas, YL; Molou, E; Schulpis, KH; Thodi, G | 1 |
Balogh, L; Kiss, E; Reismann, P | 1 |
Coffee, B; Pasquali, M; Yu, C | 1 |
Berry, GT; Coelho, AI; Demirbas, D; Rubio-Gozalbo, ME | 1 |
Boelen, A; Bosch, AM; Bouva, MJ; de Jonge, R; Heijboer, AC; Schielen, PCJI; Stroek, K; Vaz, FM | 1 |
Brueckheimer, MB; Cruz, IR; Delwing-Dal Magro, D; Delwing-de Lima, D; Lorenzini, MS; Maia, TP; Mews, MHR; Sala, GABN; Sasso, S | 1 |
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, EP | 1 |
Ben-Harosh, M; Dgany, O; Doulatov, S; Gulsuner, S; King, MC; Krasnov, T; Pierce, S; Seo, A; Shalev, H; Shimamura, A; Tamary, H; Walsh, T | 1 |
Iakovou, K; Kalogerakou, M; Schulpis, K | 1 |
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, M | 1 |
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, L | 1 |
Barrett, CE; Carlock, G; Coles, CD; Edwards, SM; Epstein, MP; Fischer, ST; Fridovich-Keil, JL; Kable, JA; Lynch, ME; Mulle, JG; Potter, NL; Wilson, E | 1 |
Frederick, AB; Fridovich-Keil, JL; Jones, DP; Li, S; Taylor Fischer, S; Tran, V | 1 |
Berry, GT; Daesety, V; Demirbas, D; Feenstra, S; Gubbels, CS; Haskovic, M; Hecht, L; Huang, X; Levy, HL; Qi, W; Waisbren, SE | 1 |
Arai-Ichinoi, N; Iwasawa, S; Kikuchi, A; Kure, S; Sakamoto, O; Tamiya, G; Wada, Y | 1 |
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, R | 1 |
Kovtun, S; Varma, SD | 1 |
Chiappori, F; Marabotti, A; Merelli, I; Milanesi, L | 1 |
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, JB | 1 |
Batinic-Haberle, I; Bishop, HM; Fridovich-Keil, JL; Hopson, ML; Jones, DP; Jumbo-Lucioni, PP; Liang, Y; Ryan, EL; Spasojevic, I; Tovmasyan, A; Weitner, T | 1 |
Al-Essa, M; Al-Qabandi, W; Dhaunsi, GS; Khan, I | 1 |
da-Silva, WS; De-Souza, EA; Machado, CM; Martins, LS; Masuda, CA; Montero-Lomelí, M; Pimentel, FS | 1 |
Cho, D; Kim, MI; Park, HG; Woo, MA | 1 |
Bernstein, LE; Berry, GT; Rohr, FJ; Scaman, CH; Van Calcar, SC; Yannicelli, S | 2 |
Barceló, A; Bauça, JM; Morell-Garcia, D; Perez-Esteban, G; Vila, M | 1 |
BRODIE, JL | 2 |
Bodamer, OA; Chen, W; Fraser, N; Goli, H; Johnson, B; Lai, K; Rascon, R; Siddiqi, A; Tang, M; Witt, B; Yin, X; Yuzyuk, T | 1 |
Fridovich-Keil, JL; Neumann, SE; Pyhtila, BM; Shaw, KA | 1 |
Mesa-Torres, N; Padín-Gonzalez, E; Pey, AL; Timson, DJ | 1 |
Hammen, HW; Kamalanathan, L; Kotzka, J; Schadewaldt, P; Wendel, U | 1 |
Broadie, K; Jumbo-Lucioni, P; Parkinson, W | 1 |
Ciampo, LA; Ferrioli, E; Junior, JS; Pfrimer, K; Porta, G; Resende-Campanholi, DR | 1 |
Balachander, B; Bharadwaj, SK; Bhat, BV; Mondal, N | 1 |
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, H | 1 |
Berry, GT; Coelho, AI; Rubio-Gozalbo, ME | 1 |
Clark, A; Coss, KP; Crushell, E; Doran, P; Knerr, I; Kratzsch, J; Rudd, PM; Shin, Y; Stöckmann, H; Treacy, E | 1 |
Ansari, J; Kianmehr, A; Mahrooz, A; Oladnabi, M; Shahbazmohammadi, H | 1 |
Chalk, R; Fitzpatrick, F; Kopec, J; McCorvie, TJ; Patel, D; Pey, AL; Shrestha, L; Yue, WW | 1 |
Daenzer, JM; Fridovich-Keil, JL; Garza, KR; Hopson, ML; Jumbo-Lucioni, PP; Ryan, EL | 1 |
Escarpa, A; García-Carmona, L; González, MC; Rojas, D | 1 |
Kalogerakou, M; Monopolis, I; Schulpis, K | 1 |
Huang, M; McAuley, M; Timson, DJ | 1 |
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, L | 1 |
Daenzer, JM; Fridovich-Keil, JL | 1 |
Boelen, A; Bosch, AM; de Vries, M; Derks, TG; Schielen, PC; Welling, L; Wijburg, FA; Williams, M | 1 |
Hanisch, FG; Müller, S; Pekmez, M; Staubach, S | 1 |
De-Queiroz, ALFV; De-Souza, EA; Gomes, FM; Machado, CM; Masuda, CA; Montero-Lomelí, M; Pimentel, FSA; Silva, GFS | 1 |
Coelho, AI; Rivera, I; Rubio-Gozalbo, ME; Vicente, JB | 1 |
Boers, GH; Bosch, AM; Guion, N; Hammen, HW; Janssen, M; Kamalanathan, L; Schadewaldt, P; Schwarz, M; Wendel, U | 1 |
ENNIS, JM; GOLDSTEIN, EO | 1 |
Day-Salvatore, DL; Ficicioglu, C; Forbes, BJ; Gallagher, PR; Hussa, C; Mattie, A; Thomas, N; Yager, C | 1 |
Hong, SP; Jeong, JS; Kwon, HJ; Lee, YM; Yoon, HR | 1 |
Clark, A; Geoghegan, O; Hendroff, U; Hughes, J; Lambert, D; Monavari, A; Rogers, Y; Ryan, S; Treacy, EP; Twomey, E | 1 |
Camargo, AS; Camelo, JS; de Souza, LO; Fernandes, MI; Giugliani, R; Jorge, SM; Leite, PC; Maciel, LM; Passador, CS; Resende, DR; Santos, JL; Scrideli, CA | 1 |
MacDonald, A; Portnoi, PA | 2 |
Doehmen, S; Joussen, AM; Kociok, N; Koizumi, K; Krohne, TU; Le, ML; Poulaki, V; Radetzky, S; Semkova, I | 1 |
Elsas, LJ; Lai, K; Wierenga, KJ | 1 |
Ficicioglu, C; Finegold, D; Freer, DE | 1 |
Jun, SH; Kim, JQ; Ko, DH; Park, HD; Park, KU; Song, J; Song, SH; Song, YH | 1 |
Alonso-Fernandez, JR; Baleato, J; Carpinteiro, MI; Fidalgo, J | 1 |
Fernhoff, PM | 1 |
Ficicioglu, C; Gallagher, PR; Hussa, C; Thomas, N; Yager, C | 1 |
Bosch, AM | 2 |
Hoffmann, B; Mayatepek, E; Meissner, T | 1 |
Fridovich-Keil, JL; Gubbels, CS; Land, JA; Rubio-Gozalbo, E; Sanders, RD; Spencer, JB | 1 |
Berry, GT | 2 |
Hennermann, JB; Klein, J; Mönch, E; Schadewaldt, P; Shin, YS; Vetter, B | 1 |
Joost, K; Krabbi, K; Õunap, K; Uudelepp, ML; Zordania, R | 1 |
Hong, SP; Kwon, HJ; Lee, JY; Lee, YM; Sim, HJ; Yoon, HR | 1 |
Abrahams, JL; Adamczyk, B; Brown, AY; Byrne, JC; Carolan, C; Coman, DJ; Coss, KP; Hendroff, U; Rudd, PM; Saldova, R; Treacy, EP; Walsh, O | 1 |
Cho, D; Kim, MI; Lee, J; Li, T; Park, HG; Shim, J; Woo, MA | 1 |
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, S | 1 |
Frazer, A; Fridovich-Keil, JL; Gleason, TJ; Liu, Y; McCorvie, TJ; Timson, DJ | 1 |
DuBoff, B; Feany, MB; Fridovich-Keil, JL; Ryan, EL | 1 |
Berry, GT; Castañeda, U; Fridovich-Keil, JL; Gleason, TJ; He, M; Liu, Y; Xia, B | 1 |
Fridovich-Keil, JL; Hang, D; Hopson, ML; Jones, DP; Jumbo-Lucioni, PP; Liang, Y | 1 |
Koppolu, P; Kowluru, RA | 1 |
Balazs, ND; Newman, JD; Ramsden, CA | 1 |
Chen, J; Reynolds, R; Segal, S; Wehrli, SL; Yager, C | 1 |
Bandyopadhyay, S; Banerjee, S; Bhattacharyya, D; Chakrabarti, J; Chakravarty, BN; Goswami, SK; Kabir, SN; Pal, AK | 1 |
Elsas, LJ; Kennedy, MJ; Singh, RH; Webb, AL | 1 |
Gosnell, K; Gropper, SS; Weese, SJ; West, P | 1 |
Forges, T; Monnier-Barbarino, P | 1 |
Cheng, LY; Cheung, AL; Lai, KW; O, WS | 1 |
Leslie, ND | 1 |
Bakker, HD; Bosch, AM; van Gennip, AH; van Kempen, JV; Wanders, RJ; Wijburg, FA | 1 |
Holden, HM; Rayment, I; Thoden, JB | 1 |
Lee, PJ; Lilburn, M; Schadewaldt, P; Wendel, U | 1 |
LOPRESTI, JM | 1 |
CROOKS, R; EDMONDS, AM; HENNIGAR, GR | 1 |
MARIS, L; VALCKE, J | 1 |
PATZ, A | 1 |
JOHNS, D | 1 |
ALLORE, S | 1 |
STEINER, MM | 1 |
KOMROWER, GM | 3 |
BIRDSONG, M; WOOD, JB | 1 |
JOHNSON, J | 1 |
McAULEY, FD | 1 |
HUDSON, FP; IRELAND, JT; OCKENDEN, BG; WHITE-JONES, RH | 1 |
HOLZEL, A | 3 |
LOCKHART, JD; ROBOZ, E | 1 |
BICKEL, H; THURSBY-PELHAM, DC | 1 |
ROBERTSON, GK | 1 |
DARLING, S; MORTENSEN, O | 1 |
COX, PJ | 1 |
ARTHURTON, MW; MEADE, BW | 1 |
GELLIS, SS; GREEN, S; HSIA, HH; KAY, M; YI-YUNG HSIA, D | 1 |
ROMANI, L | 1 |
MORTENSEN, O; SONDERGAARD, G | 3 |
LODDING, C | 1 |
SMITH, FM | 1 |
HAYES, MS | 1 |
SOUCHON, F | 1 |
ETIENNE, R; PAUFIQUE, L | 1 |
GOLBERG, L; HOLZEL, A; KOMROWER, GM; SCHWARZ, V | 2 |
DURAND, P; SEMACH, F | 1 |
ANDERSON, EP; ISSELBACHER, KJ; KALCKAR, HM; KURAHASHI, K | 2 |
ANDERSON, EP; ISSELBACHER, KJ; KALCKAR, HM | 3 |
HIRD, FJ; MOORE, AE; PERRY, JW; THOMAS, DA | 1 |
BAIN, HW; BOWDEN, DH; CHUTE, AL; JACKSON, SH; SASS-KORTSAK, A; WALKER, NF | 1 |
HOLZEL, A; KOMROWER, GM; SCHWARZ, V | 3 |
RODIER, P | 1 |
DALAUT, JC; GILLOT, F; SCHAEFER, JC | 1 |
CABASSA, N; CAREDDU, P | 1 |
WILHELM, RE | 1 |
BYNUM, E; KALCKAR, HM; MAXWELL, ES | 1 |
DURAND, P | 2 |
BERGREN, WR; DONNELL, G; KALCKAR, HM | 1 |
BENNETT, CE | 1 |
ACKER, R; HENCKEL, H; SCHREIER, K | 1 |
SCHULTZE-JENA, BS | 1 |
DONNELL, GN; WILSON, WA | 1 |
ELIACHAR, E; LESTRADET, H; MARIE, J; RAPPOPORT, R; ROYER, P | 1 |
DRABIKOWSKI, W | 1 |
PENINGTON, JS; PRANKERD, TA | 1 |
ZELLWEGER, HU | 1 |
JACOBSON, FM | 1 |
BULGARELLI, R; FASSONE, MG | 1 |
DRISCOLL, SG; HSIA, DY; HUANG, I | 1 |
LERMAN, S | 2 |
AIMAN, R; BHIDE, NK; KULKARNI, RD; SADRE, NL | 1 |
MILLIS, SC | 1 |
YBEMA, HJ | 1 |
KALCKAR, HM; KIRKMAN, HN | 1 |
COLLIPP, PJ; DONNELL, GN | 1 |
COTTE, J; LARBRE, F; MONNET, P; TISSOT, A | 1 |
CARRON, R; COTTE, J; DUC, H; JEUNE, M | 1 |
DOBRZANSKA, A | 1 |
ANDERSON, IM | 1 |
BAUER, R | 1 |
ISSELBACHER, KJ | 1 |
SOCKWELL, GD | 1 |
KALCKAR, HM | 2 |
BAGOT, T; CALDERA, R; PRINGUET, G; ROSSIER, A | 1 |
GROSS, RT; MARKS, PA | 1 |
ABOUL WAFA, MH; BADR EL-DIN, MK | 1 |
CHRISTIAN, JR; DIAMOND, EF | 1 |
GITZELMANN, R; HADORN, B | 1 |
HSIA, DY; HUANG, I; SCHNEIDER, JA; SIMPSON, K; TANNENBAUM, M | 1 |
HSIA, DY; HUGH-JONES, K; NEWCOMB, AL | 1 |
COLLADO, M; DONNELL, GN; KOCH, R | 1 |
MELIS, R; ROVINSKI, J | 1 |
PATTERSON, JW | 1 |
BEAUDOING, A; GILBERT, Y; ROGET, J | 1 |
SCHWARZ, V | 3 |
KROOTH, RS; WEINBERG, AN | 1 |
TOLSTRUP, N | 1 |
BERNHEIM, M; FOURNIER, P; FRANCOIS, R; GILLY, R; JOSSERAND, P | 1 |
DAWSON, SP; HICKMAN, RO; KELLEY, VC | 1 |
BERGREN, WR; CLELAND, RS; DONNELL, GN | 1 |
BERGREN, WR; BRETTHAUER, RK; DONNELL, GN; HANSEN, RG | 1 |
BERGREN, WR; DONNELL, GN; ROLDAN, M | 1 |
SVEJCAR, J | 1 |
CHOREMIS, C; KARPOUZAS, J; KATERELOS, C; VLACHOS, J | 1 |
CROME, L | 1 |
DAYAL, RS; MATHUR, GP; PRASAD, R | 1 |
DUBOIS, R; LOEB, H; OOMS, HA | 1 |
EGGERMONT, E; HERS, HG | 1 |
FREZAL, J; REY, J | 1 |
ADAM, H; FRIEDRICH, E; ROUPERT, G | 1 |
HOLZEL, A; KOMROWER, GM; SCHWARZ, V; WELLS, AR | 1 |
VERRON, G | 1 |
NORDMANN, J | 2 |
FROESCH, ER; PRADER, A | 1 |
AKABANE, J; TADA, K; YOKOYAMA, M | 1 |
LASTER, L; SEGAL, S; TOPPER, YJ | 1 |
DORMANDY, TL; SAMOLS, E | 1 |
de VERDIER, C; HJELM, M | 1 |
HSIA, DY; SLATIS, HM; STEINBERG, AG; WALKER, FA | 1 |
WEINBERG, AN | 1 |
BREWER, GJ; TARLOV, AR | 1 |
HSIA, DY; WALKER, FA | 2 |
BOWDEN, CH | 1 |
BEYREISS, K; MUELLER, F; STRACK, E | 1 |
ARAKAWA, M; TADA, H | 1 |
COTLIER, E | 1 |
HSIA, DY; INOUYE, T; SOUTH, A; WONG, P | 1 |
FULD, J; LONDON, M; MARYMONT, JH | 1 |
NATZSCHKA, J; WERNER, E | 1 |
BAAR, HS; GORDON, M | 1 |
DUBIN, A; MCKENNA, CH; NEWCOMER, A; WALDSTEIN, SS | 1 |
GOMMI, BW; WOOLLEY, DW | 1 |
BERGREN, WR; DONNELL, GN; WONGIN, NG | 1 |
BERGEN, WR; DONNELL, GN; NG, WG | 1 |
KOPECKY, A | 1 |
FORD, JD; HAWORTH, JC; ISRAELS, LG; ROWLAND, M; ZIPURSKY, A | 1 |
HERVEI, S; KISS, S; SCHULER, D | 1 |
EGAN, TJ; PITTMAN, TA; WELLS, WW | 1 |
BLAIR, A; ROTH, H; SEGAL, S | 2 |
ORSHANSKAIA, RE; VARES, AM | 1 |
PATTERSON, JW; PATTERSON, ME | 1 |
KINSEY, VE; PATTERSON, JW; PATTERSON, ME; REDDY, DV | 1 |
AURICCHIO, S; GITZELMANN, R | 1 |
FENTON, JC | 1 |
SEGAL, S; SPATZ, M | 1 |
BERGER, H | 1 |
CHARRAT, A; LOAEC, Y | 1 |
CANNON, EJ; RITTER, JA | 1 |
CLAY, PR; POTTER, CT | 1 |
CUSWORTH, DC; DENT, CE; FLYNN, FV | 1 |
HOLZEL, A; KOMROWER, GM | 1 |
RATHBUN, JC | 1 |
GERRARD, JW; ROSS, CA; SALT, HB | 1 |
BICKEL, H | 1 |
HAAS, L; NEWMAN, C | 1 |
HOLLMANN, S | 1 |
HSIA, DY; HUANG, I; HUGH-JONES, K | 1 |
JONES, NL; LEAK, D | 1 |
KIRKMAN, HN | 1 |
COTTE, J; GAUTHIER, J; GAY, Y; MONNET, P; SCHERRER, M | 1 |
PESCH, LA; SEGAL, S; TOPPER, YJ | 1 |
CAREDDU, P; SCHWARZ-TIENE, E | 1 |
HSIA, DY; INOUYE, T; WALKER, FA | 1 |
MOULEDOUS, P | 1 |
NELSON, DA; RICHARDSON, EM | 1 |
BRETTHAUER, RK; HANSEN, RG; NORDIN, JH | 1 |
ROSCHLAU, G | 1 |
FISCHER, K; GRUETTNER, R; SCHAEFER, KH | 1 |
Hammen, HW; Kamalanathan, L; Killius, S; Schadewaldt, P; Strassburger, K; Wendel, U | 1 |
Hammen, HW; Kamalanathan, L; Schadewaldt, P; Wendel, U | 2 |
Hammen, HW; Kamalanathan, L; Schadewaldt, P; Stolpmann, S; Wendel, U | 1 |
Hartnett, C; Jim, VJ; Scaman, CH | 1 |
DONNELL, GN; LANN, SH | 1 |
DuSHANE, JW; HARTMAN, EE | 1 |
MASON, HH; STRONG, PS; TOWNSEND, EH | 1 |
ELLENBURG, LL; PETERSON, JC | 1 |
ENNS, JH | 1 |
ANDERSON, WC; FALLS, HF; LOWREY, GH | 1 |
HOLZEL, A; KOMROWER, GM; WILSON, VK | 1 |
DE HAAS, PK | 1 |
BRAY, PT; ISAAC, RJ; WATKINS, AG | 1 |
Dwi Bahagia, A; Hamakawa, M; Kobayashi, K; Kubota, M; Naito, K; Nishimura, Y; Ono, H; Saheki, T; Sakamoto, A; Sakura, N; Tajima, G; Yoshii, C | 1 |
Behrakis, P; Marinou, K; Schulpis, KH; Tsakiris, S | 1 |
Baker, PJ; Barynin, V; de Geus, D; Glynn, SE; Hartley, A; Reece, RJ; Rice, DW; Sedelnikova, SE; Timson, DJ; van der Oost, J; Verhees, C | 1 |
Berry, GT; Reynolds, RA; Segal, S; Yager, CT | 1 |
Klapa, MI; Lai, K | 1 |
Bakker, HD; Bosch, AM; Wanders, RJ; Wenniger-Prick, LJ; Wijburg, FA | 1 |
Holden, HM; Reece, RJ; Thoden, JB; Timson, DJ | 2 |
Ohya, N | 3 |
Fridovich-Keil, JL; Holden, HM; Lucas, ME; Thoden, JB; Wasilenko, J | 1 |
Behrakis, P; Marinou, K; Schulpis, KH; Tsakiris, S; Tsopanakis, C | 2 |
Ackermans, MT; Bosch, AM; Huidekoper, HH; Sauerwein, HP; van der Crabben, SN; Wijburg, FA | 1 |
Fridovich-Keil, JL; Krieger, M; Malmstrom, K; Ross, KL; Schulz, JM | 1 |
Akagi, Y; Kubo, E; Singh, DP | 1 |
Leslie, N; Reynolds, R; Segal, S; Yager, C | 1 |
Packman, S; Zlatunich, CO | 1 |
Allen, JR; Arrowsmith, FE; Thompson, SM | 1 |
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Charlas, J; Colin, J; Thomas, D; Voyer, M | 1 |
Addo, F; Lai, K; Slepak, T; Tang, M | 1 |
Reynolds, R; Segal, S; Wehrli, S; Yager, C | 1 |
Michelakakis, H; Schulpis, KH; Tsakiris, S | 1 |
Berry, GT; Epstein, MP; Ficicioglu, C; Fridovich-Keil, JL; Gottesman, GS; Keenan, J; Lamance, K; Openo, KK; Orton, CS; Rangel, VE; Scaglia, F; Schnur, RE; Schroer, RJ; Schulz, JM; Slonim, AE; Vargas, CA; Yu, C | 1 |
Bakker, JA; Panis, B; Rubio-Gozalbo, ME; Sels, JP; Spaapen, LJ; van Loon, LJ | 1 |
Segal, S | 3 |
Reynolds, R; Segal, S; Wehrli, S | 1 |
Menheere, PP; Panis, B; Rubio-Gozalbo, ME; Spaapen, LJ; Zimmermann, LJ | 1 |
Danford, A; Ikesugi, K; Kador, PF; Madson, CJ; Mulhern, ML; Shinohara, T | 1 |
Brunetti-Pierri, N; Craigen, WJ; Opekun, AR | 1 |
Fridovich-Keil, JL | 1 |
Amemiya, S; Ohtake, A | 1 |
Hong, SP; Jeong, JS; Yoon, HR | 1 |
Mohr, S; Vincent, JA | 1 |
Akagi, Y; Blessing, K; Kador, PF; Randazzo, J; Takahashi, Y; Wyman, M | 1 |
Hartnett, C; Kim, HO; Scaman, CH | 1 |
Ficicioglu, C; Hussa, C; Segal, S; Yager, C | 1 |
Bartzeliotou, A; Kalogerakou, M; Karikas, GA; Papakonstantinou, ED; Schulpis, KH; Tsakiris, S | 1 |
Kador, PF; Madson, CJ; Mulhern, ML; Randazzo, J; Shinohara, T | 1 |
Barbouth, DS; Carver, VH; Elsas, LJ; Konopka, S; Velazquez, DL; Wilkinson, JJ | 1 |
GREENMAN, L; RATHBUN, JC | 1 |
Chhay, JS; Eaton, JS; Fridovich-Keil, JL; Gentile, M; Openo, KK | 1 |
Cuthbert, C; Elsas, L; Klapper, H | 1 |
Gommi, BW; Wild, G; Woolley, DW | 1 |
Kurien, MM; Moonsammy, GI; Sherman, WR; Stewart, MA; Wisgerhof, M | 1 |
Wilson, WA | 1 |
Fornai, K; Osváth, P; Pozderka, B; Veres, B | 1 |
Arola, H; Isokoski, M; Jokela, H; Koivula, T | 1 |
Berry, LR; Chindemi, PA; Hatton, MW; Regoeczi, E | 1 |
Beauvais, P; Guilhaume, A | 1 |
Schoon, DV | 1 |
Henderson, MJ; Holton, JB; MacFaul, R | 1 |
Fukui, H; Mikami, S; Nishino, M; Takahashi, Y; Ueda, M; Yasui, M | 1 |
Kador, PF; Kinoshita, JH | 1 |
Gjedde, A | 1 |
Grodzka, Z; Kossowicz, H; Mańkowski, T; Miesowicz, I; Radomyska, B; Zbieg-Sendecka, E; Zorska, K | 1 |
Macdonald, I; Williams, CA | 3 |
Bass, L | 1 |
Kliegman, RM; Miettinen, EL; Morton, S | 1 |
Razin, M; Stein, WD; Weiser, MB | 1 |
Ogawa, T; Sato, T; Yamanaka, K; Yonezawa, S | 1 |
Kozlová, J; Pribylová, H | 1 |
Kolb, E; Kouider, S; Lippmann, R | 1 |
Kawakami, M; Misuma, H; Ninomiya, H; Shohmori, T; Wada, H | 1 |
Avery, GB; Fletcher, AB; Glinsmann, WH; Simmons, MA; Sparks, JW | 1 |
Levy, HL; Pacholec, F; Paigen, K | 1 |
Bier, DM; Dauwalder, H; Scherz, R; Schwarz, HP; Zimmerman, A; Zuppinger, KA | 1 |
Adrian, J; David, C; Poiffait, A | 1 |
Debnam, ES | 1 |
Fujimura, Y; Kawamura, M; Naruse, H | 1 |
Costello, ML; Ivor, LP; Powell, HC; Wolf, PL | 1 |
Bain, RP; Henderson, JM; Kutner, MH | 1 |
Salganik, RI; Solov'eva, NA | 1 |
Kandaurov, VV; Salganik, RI; Solov'eva, NA | 1 |
Urban, E; Zingery, AA | 1 |
Gillett, MG; Holton, JB; MacFaul, R; Young, R | 1 |
Fujimura, Y; Ishii, S; Kawamura, M; Naruse, H | 1 |
Fales, FW; Henderson, JM | 1 |
Buffone, GJ; Johnson, JM; Lewis, SA; Sparks, JW | 1 |
Andreasen, PB; Ramsøe, K; Ranek, L | 1 |
Arnáu Silla, A; Cervera Montes, M; Colomer Terres, J; Perez Modesto, F; Peris Aguirre, L; Romar Mico, A; Tormo Calandin, C | 1 |
Chandler, LH; Geddis, LM; Kutchai, H | 1 |
Derksen-Lubsen, G | 1 |
Bunn, HF; Chiou, SH; Chylack, LT; Kinoshita, JH | 1 |
Manankova, NM; Salganik, RI; Solov'eva, NA | 1 |
Cunnick, J; Gonzalez, K; McVey, S; Takemoto, DJ; Udovichenko, IP | 1 |
Berry, GT; Gibson, JB; Mazur, AT; Palmieri, MJ; Reynolds, RA; Segal, S | 1 |
Berry, GT; Gibson, JB; Lin, Z; Mazur, AT; Nissim, I; Segal, S | 1 |
Atwood, CS; Hartmann, PE; Toussaint, JK | 1 |
Atwood, CS; Hartmann, PE | 1 |
Julia, C; Kador, PF; Neuenschwander, H; Wyman, M | 1 |
Chang, CL; Hu, OY; Tang, HS | 1 |
Robison, WG | 1 |
Gibson, JB | 1 |
Gitzelmann, R | 3 |
Dorland, B; Jakobs, C; Schweitzer, S | 1 |
Holton, JB | 1 |
Acosta, PB; Gross, KC | 2 |
Rosé-Beutler, B; Schlüchter, R; Wiesmann, UN | 1 |
Ang, SM; Donnell, GN; Landing, BH; Villarreal-Engelhardt, G | 1 |
Chung, SK; Chung, SS; Lee, AY | 1 |
Engerman, RL; Kern, TS | 9 |
Manowitz, P; Stoecker, PW; Yacynych, AM | 1 |
Basso, M; Cherian, PV; Hohman, TC; Kamijo, M; Sima, AA | 1 |
Frank, RN | 2 |
Baptista, J; Brivet, M; Gautier, M; Kadhom, N; Wolfrom, C | 1 |
Engerman, RL; Inoguchi, T; Kern, TS; King, GL; Oates, PJ; Xia, P | 1 |
Gautier, M; Kadhom, N; Poggi, J; Raynaud, N; Soni, T; Wolfrom, C | 1 |
Monnier, VM; Nagaraj, RH; Ortwerth, BJ; Prabhakaram, M | 1 |
Akagi, Y; Ikebe, H; Okamoto, S; Terubayashi, H; Tsuji, T | 1 |
Okamura, R; Taura, T; Teshima, R | 1 |
Bauman, JW; Fu, SC; Hu, L; Jaya, B; Reddi, AS | 1 |
Allen, RJ; Jacobson, J; Schaefer, AM | 1 |
Gropper, SS; Gross, KC; Olds, SJ | 1 |
Lehotay, DC | 1 |
Acosta, PB; Berry, GT; Gross, KC; Henstenburg, JA; Mazur, A; Palmieri, M; Reynolds, R; Segal, S | 1 |
Baba, M; Fujimoto, J; Kokai, Y; Nishimura, C; Sugimoto, K; Wada, R; Wong, HG; Yagihashi, S; Yamagishi, S | 1 |
Balaban, RS; Ceckler, TL; Kador, PF; Lizak, MJ; Mori, K | 2 |
Bianchi, G; Brizi, M; Fabbri, A; Marchesini, G; Motta, E; Zoli, M | 1 |
Bond, J; Donaldson, P; Green, C; Kistler, J | 1 |
Gibson, JB; West, R | 1 |
Lorenzi, M; Roy, S | 1 |
Burgan, J; Faller, A; Obrosova, I; Ostrow, E; Williamson, JR | 1 |
Hammer, C; Hoebel, G; Mueller-Derlich, J; Pascher, A; Poehlein, C; Stangl, M; Thiery, J | 1 |
Amin, R; Frank, RN; Hohman, TC; Kennedy, A | 1 |
Berry, GT; Elsas, LJ; Gibson, JB; Klein, PD; Lin, Z; Mazur, AT; Nissim, I; Segal, S; Singh, RH | 1 |
Guthenberg, C; Kristiansson, B; Stibler, H; von Döbeln, U | 1 |
Charlwood, J; Clayton, P; Keir, G; Mian, N; Winchester, B | 1 |
Petry, KG; Reichardt, JK | 1 |
Glover, JP; Hosotani, H; Jacot, JL; Lois, N; Robison, WG | 1 |
Isshiki, G; Okano, Y | 2 |
Akagi, Y; Kasahara, T; Kobayashi, T; Kubo, E; Takahashi, Y; Yonezawa, H | 1 |
Jonas, MM; Kim, SZ; Laor, T; Levy, HL; Marz, PL; Teitelbaum, J | 1 |
Basso, MD; Glover, JP; Hohman, TC; Jacot, JL; Robison, WG | 1 |
Takemoto, DJ | 1 |
Kern, TS; McDermott, AM; Murphy, CJ; Reid, TW; Russell, P | 1 |
Ali, AH; Devamanoharan, PS; Henein, M; Rutzen, AR; Varma, SD | 1 |
Kannan, R; Mackic, JB; Zlokovic, BV | 1 |
Andrade, J; Eu, JY; Wang, CY | 1 |
Goto, H; Ishiguro, I; Majima, Y; Niwa, T; Ohta, Y; Yamasaki, T | 1 |
Berkowitz, BA; Frank, RN; Hohman, TC; Kern, TS; Kowluru, RA; Prakash, M | 1 |
Bhat, PJ; Kabir, A; Mehta, DV | 1 |
Inoue, Y; Kuhara, T; Ose, M; Peng, H; Shinka, T; Zhen-Wei, X | 1 |
Ali, AH; Devamanoharan, PS; Henein, M; Varma, SD | 1 |
Engerman, RL; Kern, TS; Kowluru, RA | 1 |
Eguchi, T; Hamakawa, M; Mawatari, H; Mizoguchi, N; Ono, H; Sakura, N | 1 |
Chakrabarti, S; Downey, D; Evans, T; Mukherjee, K; Xi Deng, D | 1 |
Gropper, SS; Gross, KC; Weese, JO; West, PA | 1 |
Chuang, SA; Ho, Y; Huang, FY; Shaw, TS | 1 |
Berry, GT; Chen, J; Leslie, N; McNamara, PD; Ning, C; Reynolds, R; Segal, S; Yager, C | 1 |
Majima, Y; Niwa, T; Ohta, Y; Yamasaki, T | 1 |
Kern, TS; Kowluru, RA; Lorenzi, M; Mizutani, M; Nagaraj, RH; Podesta, F; Romeo, G; Tang, J | 1 |
Eguchi, T; Mizoguchi, N; Ono, H; Sakura, N | 1 |
Ning, C; Segal, S | 1 |
Fridovich-Keil, JL; Wohlers, TM | 1 |
Gusek-Schneider, GC; Jünemann, AG; Naumann, GO; Shin, YS; Viestenz, A | 1 |
Berry, GT; Leslie, N; Reynolds, R; Segal, S; Yager, CT | 1 |
Elsas, LJ | 1 |
Brightman, A; Chan, X; Fenwick, B; Hua, D; Karrer, J; Lewis, S; McGill, J; Pang, YP; Saleh, S; Takemoto, D; Tan, Z | 1 |
Elsas, LJ; Gibson, J; Segal, S; States, B; Yager, C | 1 |
Brivet, M; Labrune, P; Odièvre, M; Rivière, MF | 1 |
Berkowitz, BA; Hawkins, R; Ito, Y; Kern, TS; McDonald, C | 1 |
Ito, M; Kitamura, S; Kobayashi, K; Kuroda, Y; Matsuura, S; Naito, E; Nishimura, Y; Ogawa, Y; Saheki, T; Saijo, T; Sakura, N | 1 |
Akagi, Y; Blessing, K; Greentree, W; Kador, PF; Lackner, P; Neuenschwander, H; Takahashi, Y; Wyman, M | 1 |
Hill, HZ | 2 |
Osang, M; Schaub, J; Shin-Buehring, YS; Ziegler, R | 1 |
de Bruyn, CH; Hösli, P; Oei, TL; Raymakers, C; Wensing, A | 1 |
Montreuil, J; Poitau, A; Strecker, G; Trentesaux-Chauvet, C | 1 |
Hazinski, TA; Nadler, HL | 1 |
Rosensweig, NS | 1 |
Aldinger, CE; MacDonald, DP; Peterson, MJ; Sarges, R | 1 |
Kimlová, I; Pribylová, H; Sternová, H | 1 |
Kaloud, H; Sitzmann, FC | 4 |
Friedman, TB; Merril, CR; Yarkin, RJ | 2 |
Tedesco, TA | 2 |
Crollini, C; Gupta, JD; Harley, JD; Mutton, P; Stephens, T | 1 |
Lambotte, C | 1 |
Enzenauer, J; Matz, D; Menne, F | 2 |
Osang, M; Schaub, J | 1 |
Colin, J; Satge, P; Schapira, F; Thomas, D; Voyer, M | 1 |
Alfi, O; Bergren, WR; Donnell, GN; Golbus, MS; Ng, WG | 1 |
Kaloud, H; Schmid, RD; Sitzmann, FC | 1 |
Beier, T; Osang, M; Schaub, J; Shin-Buehring, YS; Tan, A | 1 |
Johnson, JB; Noguchi, PD; Petricciani, JC | 1 |
Cohn, RM; Segal, S; Yudkoff, M | 1 |
Brivet, M; Lemonnier, A; Moatti, N | 1 |
Bozkowa, K; Cabalska, B; Grodzka, Z; Zbieg-Sendecka, E | 1 |
Grodzka, Z; Zbieg-Sendecka, E | 1 |
Litchfield, WJ; Wells, WW | 1 |
Kador, PF; Kinoshita, JH; Zigler, JS | 1 |
Miller, KL; Tedesco, TA | 1 |
Elia, M; Ilic, V; Oppenheim, WL; Smith, R; Williamson, DH | 1 |
Isshiki, G | 1 |
Newstead, GC | 1 |
Abeloff, M; Borek, E; Cole, TF; Ettinger, DS; Gehrke, CW; Kuo, KC; Rosenshein, N; Swartz, WF; Waalkes, TP; Young, RC | 1 |
Keyser, A; Macdonald, I; Phillips, T | 1 |
Tygstrup, N | 1 |
Ilic, V; Kettlewell, MG; Royle, G; Williamson, DH | 1 |
Chiarantini, E; Keiding, S | 1 |
Castro Gómez, A; de la Rosa, A; Gayoso Gómez, F; Gómez de Terreros, I; Muñóz Conde, J; Senín Sánchez, J | 1 |
Hammersen, G; Levy, HL | 1 |
Kovács, BJ; Nagy, I; Németh, L | 1 |
Chang, TM; Nasielski, P | 1 |
Böhmer, R; Rommel, K; Török, M | 1 |
Balcells, A; Carbonell, J; Font, J; Prellezo, P; Vivancos, J | 1 |
Kovács, J; Lapis, K; Németh, L | 1 |
Wiśniewski, L; Wrede, A | 1 |
Ambrus, CM; Ambrus, JL; Cleveland, C; Mink, IB; Shields, R | 1 |
Heuckenkamp, PU; Zöllner, N | 1 |
Rüdiger, HW; Wöhler, W | 1 |
van Heyningen, R | 2 |
Crollini, C; Gupta, J; Harley, J; Mutton, P; Yu, J | 1 |
Buhl, S; Caillibot, V; Mohyuddin, F; Rozen, R; Scriver, CR | 1 |
Brown, E; Hughes, RC; Watts, RW | 1 |
Kust, S; Lipovac, K; Raić, F; Stopić, Z; Votava, A | 1 |
Kleinzeller, A; Pritchard, JB | 1 |
Danks, DM; Davies, HE; Oberklaid, F | 1 |
Hammersen, G; Levy, HL; Mandell, R | 1 |
Hammersen, G; Houghton, S; Levy, HL | 1 |
Kostyrev, OA; Solov'eva, NA | 1 |
Bergren, WR; Donnell, GN; Ng, WG | 1 |
Brendel, W; Bücklein, R; Lob, G; Mehnert, H; Messmer, K; Pröls, H; Seifert, J | 1 |
Forster, J; Hans, C; Keppler, D; Künzer, W; Niederhoff, H; Schuchmann, L | 1 |
Gaifman, M; Nitzan, M; Vogel, R | 1 |
Johansen, S; Keiding, S; Tonnesen, K; Tygstrup, N; Winkler, K | 1 |
Cross, CA; Donnell, GN; Kaufman, FR; Nelson, MD; Wolff, JA | 1 |
Ulm, JE | 1 |
Bekhor, I; Shi, S; Tsui, J; Unakar, NJ; Wen, Y | 1 |
Cameron, NE; Cotter, MA; Robertson, S | 1 |
Bekhor, I; Shu, S; Unakar, NJ; Wen, Y | 1 |
Akagi, Y; Ikebe, H; Matsumoto, Y; Mori, K; Tanimoto, T; Terubayashi, H; Tsutsumi, M | 1 |
Akagi, Y; Ikebe, H; Okamoto, S; Terubayashi, H; Tsutsumi, M | 1 |
Demling, R; Knox, J; Lalonde, C; Youn, YK | 1 |
Berry, GT; McGuire, EJ; Ornstein, KS; Roth, S; Segal, S | 1 |
Angus, PW; Collins, JE; Dixon, RM; Kalderon, B; Leonard, JV; Oberhaensli, RD; Radda, GK; Rajagopalan, B | 1 |
Neil, B; Niewoehner, CB | 1 |
Hayashi, M; Mino, M; Yamazaki, T | 1 |
Wolff, SP; Woollard, AC | 1 |
Eisen, H; Greinix, HT; Hakomori, S; Levy, HL; Nudelman, E; Petry, K; Reichardt, JK | 1 |
Rogers, S; Segal, S | 1 |
D'Armiento, M; Fontanella, A; Tedesco, M; Vajro, P; Vecchione, R | 1 |
Lemonnier, A; Mangeot, M; Pourci, ML; Soni, T | 1 |
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Hata, M; Ichiba, Y; Inoue, B; Misumi, H; Mori, T; Wada, H | 1 |
Chang, K; Kilo, C; Province, MA; Pugliese, G; Speedy, A; Tilton, RG; Williamson, JR | 1 |
Hartmann, PE; Riordan, PR; Wilson, RG | 1 |
Datiles, MB; Kador, PF; Kashima, K; Kinoshita, JH; Sinha, A | 1 |
Bondy, C; Kador, P; Lightman, S | 1 |
Hayakawa, K; Marotta, F; Morello, P; Ono, K; Ragno, F; Salamanca, S; Sasaki, M; Vitale, G | 1 |
Cheng, HM; Tsubota, K; Xiong, H; Xiong, J | 1 |
Clemens, PC; Plettner, C; Vellguth, B | 1 |
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Alloussi, S; Birlouez-Aragon, I | 1 |
Ansari, NH; Srivastava, SK | 1 |
Griffin, BW; Williams, GW | 1 |
Clamp, JR; Dobbie, JA; Holton, JB | 1 |
Donnell, GN; Kaufman, FR; Lobo, RA; Ng, WG; Silva, PD; Xu, YK | 1 |
Allen, JT; Gillett, MG; Holton, JB | 1 |
Brazzell, RK; Chandler, ML; Dickerson, JE; Lou, MF; York, BM | 1 |
Ansari, NH; Datiles, MB; Maumenee, AE; Srivastava, SK; Stark, WJ; Stevens, RE | 1 |
Alloussi, S; Birlouez-Aragon, I; Fevrier, C; Papadopoulos, H | 1 |
Nishina, T | 1 |
Dilling, LA; Ford, JD; Greenberg, CR; Haworth, JC; Seargeant, LE; Thompson, R | 1 |
Donnell, GN; Kaufman, FR; Lobo, RA; Ng, WG; Xu, YK | 1 |
Fraser, IS; Greco, S; Robertson, DM; Russell, P | 1 |
Wada, E | 1 |
Miłoszewska, E; Pronicka, E; Rowińska, E | 1 |
Allen, JC; Rattenbury, JM; Taylor, CJ; Tulloh, R | 1 |
Bakker, HD; Jakobs, C; Kleijer, WJ; Niermeijer, MF; Przyrembel, H; van Gennip, AH | 1 |
Battaglia, FC; Siegel, CD; Sparks, JW | 1 |
Owada, M | 1 |
Abdul-Karim, FW; Emancipator, SN; Monnier, VM; Sell, DR | 1 |
Beppu, T; Hanano, M; Idezuki, Y; Iga, T; Kawasaki, S; Sanjo, K; Sugiura, M; Sugiyama, Y | 1 |
Bessard, C; Birlouez, I; Dillon, JC; Lestradet, H | 1 |
Cream, JJ; Mount, JN; Muhlemann, MF | 1 |
Holton, JB; Kingsley, DM; Krieger, M | 1 |
Guthrie, R; Jinks, DC; Orfanos, AP | 1 |
Barth, CA; Kopra, N | 1 |
Adrian, J; Kechrid, RM; Poiffait, A | 1 |
Kliegman, RM; Sparks, JW | 1 |
Auricchio, G; Della Corte, M; Iuliano, G; Latte, F; Libondi, T; Menzione, M | 1 |
Bachmann, C; Schaefer, T; Schwarz, HP | 1 |
Dvornik, D; Gonzalez, R; Greselin, E; Simard-Duquesne, N | 1 |
B Kovács, J; Lörincz, M; Nagy, I; Sashegyi, J; Vajta, G | 1 |
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Raine, DN; Westwood, A | 1 |
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Kallen, RG; Mellman, WJ; Tedesco, TA; Wu, JW | 1 |
Baïsset, A; Dang-Tran, L; Montastruc, P | 2 |
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Förster, H; Haslbeck, M | 1 |
McIntyre, JP; Schlichter, DJ; Spieker, SE; Wacholtz, MC; Wells, WW | 1 |
Schmidt, FH; Stork, G; Stork, H; Teuber, C | 1 |
Cohn, RM; Segal, S | 1 |
Baerlocher, K; Gitzelmann, R; Prader, A | 1 |
Donnell, GN; Frasier, SD; McVie, R; Ng, WG; Olambiwonnu, NO | 1 |
Desjardins, L; Kelly, S; Leikhim, E | 1 |
Kaloud, H; Mayer, R; Paltauf, F; Sitzmann, FC | 1 |
Klethi, J | 2 |
Kruas, H; Mönch, E | 1 |
Ellis, G; Goldberg, DM; Wilcock, AR | 1 |
Bütler, RB; Pelugshaupt, R; Scherz, R | 1 |
Keiding, S | 1 |
Gregori, C; Poenaru, L; Schapira, F | 1 |
Klujber, L; Méhes, K; Tóth, P | 1 |
Binder, MK; Geier, MR; Merril, CR; Petricciani, JC | 2 |
Sychlowy, A | 1 |
Howard, PN; Mayes, JS; Seely, JR | 1 |
Chacko, CM; McCrone, L; Nadler, HL | 2 |
Hoffrichter, E; Maaz, E | 1 |
Bernhardt, W | 1 |
Bergren, WR; Donnell, GN; Frasier, SD; Oberman, AE; Wilson, WA | 1 |
Finberg, L; Finkelstein, JW; Hellman, L; Ludan, A | 1 |
Carulli, N; Manenti, F; Salvioli, GF | 1 |
Mellman, WJ; Morrow, G; Tedesco, TA | 1 |
Hill, HZ; Puck, TT | 2 |
Dvornik, D; Simard-Duquesne, N | 1 |
Beutler, E; Degnan, M; Krill, A; Kuhl, W; Levy, N; Matsumoto, F; Sparkes, R | 1 |
Cogan, DG | 1 |
Bergren, WR; Donnell, GN; Ng, WG; Roe, TF | 1 |
Daubresse, JC; Lefebvre, P; Luyckx, A | 1 |
Donnell, GN | 1 |
Mayes, JS; Miller, LR | 1 |
Kesäniemi, YA | 1 |
Wagner, F; Wernze, H | 1 |
Bach-Mortensen, N; Lindskov, J | 1 |
Keiding, N; Keiding, S; Tystrup, N | 1 |
Harris, RC | 1 |
Keston, AS; Rosenberg, D | 1 |
Woolf, LI | 1 |
Spector, A | 1 |
Hansen, RG | 1 |
Beutler, E; Efron, ML; Houghton, S; Isselbacher, KJ; Karolkewicz, V; Levy, HI; MacCready, RA; Shih, VE | 1 |
Geier, MR; Merril, CR; Petricciani, JC | 1 |
Ng, WG | 1 |
Dahlqvist, A; Jagenburg, R; Mark, A | 1 |
Gladtke, E; Kielhorn, A | 1 |
Agarwala, SC; Bajpai, PC; Tripathi, TK | 1 |
Humbel, R; Kutter, D | 1 |
Knapp, W; Winkler, G | 1 |
Malone, JI; Segal, S; Wells, H | 1 |
Scheibenreiter, S; Thalhammer, O | 1 |
Desjardins, L; Kelly, S; Khera, SA | 1 |
Demetriou, J; Szustkiewicz, C | 1 |
Freier, E; Kruger, H; Prinsloo, JG; Wittmann, W | 1 |
Steuer, W | 1 |
Dahlqvist, A | 4 |
Csordás, J; Méhes, K; Ritecz, E; Rubecz, I | 1 |
Weidemann, G | 1 |
Prochorow, M | 1 |
Förster, H | 1 |
Ford, JD; Haworth, JC; Younoszai, MK | 1 |
Hill, JB; Hochella, NJ | 1 |
Grimmel, K; Rommel, K | 2 |
Klingmüller, V; Kruse-Jarres, JD | 1 |
Berger, R; Broyer, M | 1 |
Meeuwisse, GW; Melin, K | 1 |
Gottschalk, B; Hinkel, GK; Roschlau, G | 1 |
Haschemian, G; Menne, F | 1 |
Komrower, GM; Lee, DH | 1 |
Bott, DE; Hopley, PJ; Leach, RH | 1 |
Holtzapple, PG; Mellman, WJ; Rogers, S; Segal, S | 1 |
Lindskov, J | 1 |
Johansson, S; Thalme, B; Werner, B | 1 |
Dahlqvist, A; Gamstorp, I; Madsen, H | 1 |
Mayes, JS; Miller, LR; Myers, FK | 1 |
Rommel, K | 1 |
Thalhammer, O | 1 |
Duke, JR; Richter, CP | 1 |
Hager-Malecka, B; Sychlowy, A; Szczepański, Z | 1 |
Beutler, E; Casey, EC; Monteleone, JA; Monteleone, PL; Utz, CL | 1 |
Coodin, FJ; Haworth, JC | 1 |
Donnell, GN; Hallatt, JG; Ng, WG; Roe, TF | 1 |
Gitzelmann, R; Poley, JR; Prader, A | 1 |
DeMars, R; Russell, JD | 1 |
Cramer, K; Rommel, K | 1 |
Beaty, C; Cotlier, E | 1 |
Gabbay, KH; O'Sullivan, JB | 1 |
Göthe, S; Linneweh, F | 1 |
Gitzelmann, R; Pantlitschko, M; Thalhammer, O | 1 |
Sitzmann, FC | 1 |
Tengström, B; Wranne, L | 1 |
Abraham, HD; Howell, RR | 1 |
Keiding, S; Tygstrup, N | 1 |
Schwarz, V; Simpson, IM | 1 |
von Berg, W | 1 |
Milhaud, G; Tron, P | 1 |
Kaplan, JC; Schapira, F | 1 |
Dahlqvist, A; Svenningsen, NW | 1 |
Ionăşescu, V; Luca, N | 1 |
Kinoshita, JH | 1 |
Becker, B; Cotlier, E | 1 |
Ulbricht, J | 1 |
Quan-Ma, R; Wells, WW | 1 |
Caldeira, JA; Monteiro, DC; Ramos, AO; Schmidt, BJ | 1 |
Egan, TJ; Wells, WW | 1 |
Egan, TJ; Quan-Ma, R; Sherman, FE; Wells, HJ; Wells, WW | 1 |
Beutler, E; Mathai, CK; Pilson, ME | 1 |
Nunes, CS; Rychen, G | 1 |
Kirschbaum, BB | 1 |
Widdas, WF | 1 |
Brown, BD; Brunngraber, EG; Hof, H | 1 |
Bryla, R | 1 |
59 review(s) available for galactose and Classic Galactosemia
Article | Year |
---|---|
Pathophysiology and management of classic galactosemic primary ovarian insufficiency.
Topics: Animals; Disease Models, Animal; Female; Fertility; Galactose; Galactosemias; Humans; Mice; Ovary | 2021 |
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Molecular Biology; Neonatal Screening; UTP-Hexose-1-Phosphate Uridylyltransferase | 2022 |
The Importance of Neonatal Screening for Galactosemia.
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.
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.
Topics: Female; Fertility Preservation; Galactose; Galactosemias; Humans | 2019 |
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
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.
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
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.
Topics: Carbohydrate Epimerases; Galactose; Galactosemias; Humans; Mutation; Protein Conformation, beta-Strand | 2021 |
[Diet treatment of classical galactosemia].
Topics: Diet, Healthy; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male | 2017 |
Hereditary galactosemia.
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.
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.
Topics: Age Factors; Diet, Carbohydrate-Restricted; Food; Galactose; Galactosemias; Humans | 2014 |
Galactose metabolism and health.
Topics: Carbohydrate Metabolism; Galactose; Galactosemias; Humans | 2015 |
The molecular basis of galactosemia - Past, present and future.
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.
Topics: Evidence-Based Medicine; Follow-Up Studies; Galactose; Galactosemias; Humans; Metabolism, Inborn Errors | 2017 |
Drosophila melanogaster Models of Galactosemia.
Topics: Animals; Disease Models, Animal; Drosophila melanogaster; Galactokinase; Galactose; Galactosemias; Humans; UDPglucose 4-Epimerase | 2017 |
Sweet and sour: an update on classic galactosemia.
Topics: Animals; Galactose; Galactosemias; Humans; UDPglucose-Hexose-1-Phosphate Uridylyltransferase | 2017 |
Galactose toxicity in animals.
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.
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.
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?
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?
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].
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.
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.
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.
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?
Topics: Animals; Galactose; Galactosemias; Gene Targeting; Humans; Protein Engineering; Recombinant Proteins; Signal Transduction | 2004 |
Galactokinase: structure, function and role in type II galactosemia.
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].
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.
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.
Topics: Animals; Galactose; Galactosemias; Glycolipids; Glycoproteins; Humans | 2006 |
[Galactosemia].
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.
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.
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.
Topics: Animals; Female; Galactose; Galactosemias; Gonads; Humans; Male; Poisoning | 1995 |
Galactose-1-phosphate in the pathophysiology of galactosemia.
Topics: Galactose; Galactosemias; Galactosephosphates; Glucose; Humans; Infant, Newborn; Phosphorylation | 1995 |
Defective galactosylation in galactosemia: is low cell UDPgalactose an explanation?
Topics: Galactose; Galactosemias; Humans; Uridine Diphosphate Galactose; Uridine Diphosphate Glucose | 1995 |
Effects of galactosemia in utero.
Topics: Female; Fetal Diseases; Galactose; Galactosemias; Humans; Male | 1995 |
Hidden sources of galactose in the environment.
Topics: Carbohydrate Sequence; Female; Food Analysis; Galactose; Galactosemias; Humans; Molecular Sequence Data | 1995 |
[Tests for galactose metabolism].
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.
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].
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].
Topics: Diagnosis, Differential; Galactokinase; Galactose; Galactosemias; Humans; Prognosis | 1998 |
[Galactose].
Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Neonatal Screening | 1999 |
[Congenital disorders of galactose metabolism].
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.
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)].
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.
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.
Topics: Female; Galactokinase; Galactose; Galactosemias; Humans; Pregnancy; Prenatal Diagnosis | 1989 |
Perinatal galactose metabolism.
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.
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].
Topics: Age Factors; Cataract; Deficiency Diseases; Erythrocytes; Galactose; Galactosemias; Galactosidases; Genotype; Humans; Lactose; Nucleotidyltransferases; Phosphotransferases | 1972 |
Recent studies on galactosaemia, phenylketonuria and homocystinuria.
Topics: Adult; Brain Chemistry; Child; Female; Galactose; Galactosemias; Homocystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Phenylketonurias; Phosphotransferases | 1968 |
Physiological chemistry of the eye.
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.
Topics: Diet Therapy; Galactose; Galactosemias; Humans; Intellectual Disability | 1969 |
Galactose toxicity and cellular growth of fetal brain.
Topics: Animals; Brain; Cell Division; Depression, Chemical; Female; Galactose; Galactosemias; Maternal-Fetal Exchange; Nerve Tissue Proteins; Pregnancy; Rats | 1970 |
Galactose cataract: a review.
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.
Topics: Carbon Dioxide; Carbon Isotopes; Counseling; Electrophoresis; Erythrocytes; Eugenics; Galactose; Galactosemias; Genotype; Glucose; Heterozygote; Humans; Isomerases; Kinetics; Mass Screening; Methylene Blue; Nucleotidyltransferases; Phosphotransferases | 1971 |
6 trial(s) available for galactose and Classic Galactosemia
Article | Year |
---|---|
Verbal dyspraxia and galactosemia.
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.
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.
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.
Topics: Adult; Child; Fabaceae; Female; Galactose; Galactosemias; Galactosephosphates; Humans; Oligosaccharides; Plants, Medicinal; Raffinose | 1995 |
Carbohydrate-deficient transferrin in galactosaemia.
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.
Topics: Adult; Blood Glucose; Clinical Trials as Topic; Galactose; Galactosemias; Humans; Insulin; Male; Middle Aged; Obesity; Sweetening Agents; Taste | 1976 |
702 other study(ies) available for galactose and Classic Galactosemia
Article | Year |
---|---|
β-Galactosidase therapy can mitigate blood galactose elevation after an oral lactose load in galactose mutarotase deficiency.
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.
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.
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.
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.
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.
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
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.
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.
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.
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.
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.
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.
Topics: Adult; Cheese; Child; Diet; Food Handling; Galactose; Galactosemias; Humans; Lactose | 2023 |
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.
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.
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.
Topics: Child; Cross-Sectional Studies; Galactose; Galactosemias; Humans | 2023 |
Dehydroepiandrosterone supplementation attenuates ovarian ageing in a galactose-induced primary ovarian insufficiency rat model.
Topics: Aging; Animals; Dehydroepiandrosterone; Dietary Supplements; Disease Models, Animal; Female; Galactose; Galactosemias; Humans; Ovarian Follicle; Pregnancy; Primary Ovarian Insufficiency; Rats | 2019 |
Galactosemia.
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.
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.
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.
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.
Topics: Galactose; Galactosemias; Glycosylation; HEK293 Cells; Humans; Phenotype; UTP-Hexose-1-Phosphate Uridylyltransferase | 2020 |
Therapies for galactosemia: a patent landscape.
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.
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.
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.
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.
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.
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.
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.
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).
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.
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.
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).
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.
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.
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.
Topics: Arginine; Aspartic Acid; Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Humans; Metabolism, Inborn Errors; Mutation; Retrospective Studies | 2018 |
Developmental Outcomes in Duarte Galactosemia.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Caseins; Cheese; Diet; Fabaceae; Galactose; Galactosemias; Humans; UTP-Hexose-1-Phosphate Uridylyltransferase | 2014 |
Usefulness of Benedict's test for the screening of galactosemia.
Topics: Carbonates; Citrates; Copper; Cyanates; False Positive Reactions; Galactose; Galactosemias; Humans; Indicators and Reagents; Infant, Newborn; Retrospective Studies | 2014 |
[Galactosemia].
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Adult; Breast Feeding; Cesarean Section; Erythrocytes; Female; Galactitol; Galactose; Galactosemias; Galactosephosphates; Humans; Lactation; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Young Adult | 2009 |
Galactosemia.
Topics: Blood; Galactose; Galactosemias; Humans | 1948 |
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.
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.
Topics: Adult; Anion Exchange Resins; Blood Specimen Collection; Chromatography, Ion Exchange; Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn | 2008 |
Outcomes of siblings with classical galactosemia.
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.
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.
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.
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.
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.
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.
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?
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.
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.
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.
Topics: Blood; Cataract; Child; Galactose; Galactosemias; Humans; Infant | 1946 |
Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.
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.
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.
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.
Topics: Cheese; Galactose; Galactosemias; Humans; Lactose | 2011 |
IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Adult; Female; Food, Formulated; Galactose; Galactosemias; Humans; Intellectual Disability | 2003 |
Galactosemia; a case report with a review of the literature.
Topics: Child; Galactose; Galactosemias; Humans; Pediatrics | 1952 |
Galactosemia; report of case with autopsy.
Topics: Autopsy; Child; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Pediatrics | 1952 |
[Galactosemia; general considerations and review of a case].
Topics: Child; Galactose; Galactosemias; Humans; Pediatrics | 1953 |
Cataracts in galactosemia; observations in three cases.
Topics: Cataract; Galactose; Galactosemias; Humans | 1953 |
Galactosemia; an unusual cause of neonatal jaundice.
Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Jaundice; Jaundice, Neonatal | 1953 |
Galactosemia.
Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Metabolic Diseases | 1953 |
Galactosemia and galactosuria.
Topics: Blood; Body Fluids; Galactose; Galactosemias; Humans; Urine | 1953 |
[Amino-aciduria in galactosemia].
Topics: Amino Acids; Antifibrinolytic Agents; Body Fluids; Chromatography; Galactose; Galactosemias; Humans | 1953 |
Galactosemia.
Topics: Child; Galactose; Galactosemias; Metabolic Diseases; Pediatrics | 1953 |
Cataracts in galactosemia.
Topics: Cataract; Child; Galactose; Galactosemias; Humans; Infant | 1953 |
Cataracts in galactosaemia.
Topics: Cataract; Child; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases | 1953 |
Diagnosis and treatment of galactosaemia.
Topics: Galactose; Galactosemias; Humans; Infant; Infant Nutritional Physiological Phenomena; Infant, Newborn; Infant, Newborn, Diseases | 1954 |
Galactosaemia.
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.
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.
Topics: Amino Acids; Galactose; Galactosemias; Humans; Metabolic Diseases; Syndrome; Urine | 1954 |
Paper chromatography of urine in galactosaemia.
Topics: Amino Acids; Chromatography; Chromatography, Paper; Galactose; Galactosemias; Glycosuria; Humans; Urine | 1954 |
Aminoaciduria in galactosaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood; Body Fluids; Galactose; Galactosemias; Humans; Infant; Infant Nutritional Physiological Phenomena; Urine; Urologic Diseases | 1954 |
Galactosaemia.
Topics: Blood; Child; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Jaundice; Liver Diseases | 1954 |
Congenital galactosaemia; report of a case.
Topics: Blood; Erythroblastosis, Fetal; Fetus; Galactose; Galactosemias; Hematologic Diseases; Humans; Infant, Newborn; Infant, Newborn, Diseases; Kidney Diseases | 1954 |
Amino-aciduria in galactosemia.
Topics: Amino Acids; Antifibrinolytic Agents; Blood; Body Fluids; Chromatography; Galactose; Galactosemias; Humans | 1954 |
[Galactosemia or galactose diabetes].
Topics: Blood; Child; Diabetes Mellitus; Galactose; Galactosemias; Humans; Infant; Metabolic Diseases | 1954 |
Galactosaemia (galactose disease).
Topics: Blood; Galactose; Galactosemias | 1954 |
Galactosemia.
Topics: Galactose; Galactosemias; Humans; Liver | 1954 |
Galactosemia in an eight day old infant.
Topics: Blood; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases | 1955 |
Galactosemia, a case presentation.
Topics: Blood; Galactose; Galactosemias; Humans | 1955 |
[Congenital galactosemia].
Topics: Blood; Galactose; Galactosemias | 1955 |
GALACTOSEMIA.
Topics: Blood; Galactose; Galactosemias; Humans | 1956 |
[Cataract of polyepiphyseal chondrodystrophic calcinosis in fetus (stippled epiphysis disease); cataract caused by galactosemia].
Topics: Achondroplasia; Blood; Calcinosis; Cataract; Child; Enchondromatosis; Epiphyses; Fetus; Galactose; Galactosemias; Humans; Infant; Osteochondrodysplasias | 1954 |
Galactosaemia.
Topics: Blood; Galactose; Galactosemias | 1955 |
Some disturbances of erythrocyte metabolism in galactosaemia.
Topics: Blood; Erythrocytes; Galactose; Galactosemias; Humans | 1956 |
[Late mild forms of galactosemia in two brothers; clinical interpretation and genetic classification of the disease].
Topics: Blood; Galactose; Galactosemias; Genetic Therapy; Heredity; Humans; Siblings | 1955 |
Congenital galactosemia, a single enzymatic block in galactose metabolism.
Topics: Carbohydrate Metabolism; Galactose; Galactosemias | 1956 |
Galactosemia, a congenital defect in a nucleotide transferase.
Topics: Blood; Galactose; Galactosemias; Nucleotides; Transferases | 1956 |
Galactose intolerance: observations on an experimental animal.
Topics: Animals; Animals, Laboratory; Galactose; Galactosemias | 1956 |
Defect in uptake of galactose-1-phosphate into liver nucleotides in congenital galactosemia.
Topics: Biochemical Phenomena; Galactose; Galactosemias; Galactosephosphates; Humans; Liver; Nucleotides | 1957 |
Galactosaemia.
Topics: Galactose; Galactosemias | 1957 |
Galactosemia.
Topics: Galactose; Galactosemias; Humans | 1957 |
GALACTOSEMIA: clinical staff conference at the National Institutes of Health.
Topics: Galactose; Galactosemias; National Institutes of Health (U.S.); United States | 1957 |
[A case of galactosemia in a two-month-old infant].
Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases | 1957 |
[First case of congenital galactosemia in Algeria].
Topics: Algeria; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases | 1957 |
[Metabolic modifications in experimental galactosemia].
Topics: Biochemical Phenomena; Galactose; Galactosemias | 1957 |
Differentiation of chronic galactosemia and milk allergy in early childhood.
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.
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.
Topics: Enzyme Assays; Galactose; Galactosemias; Isomerases; Racemases and Epimerases | 1957 |
A specific enzymatic defect in congenital galactosemia.
Topics: Enzymes; Galactose; Galactosemias | 1957 |
Laboratory diagnosis of congenital galactosaemia at birth.
Topics: Clinical Laboratory Techniques; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Parturition | 1958 |
[Current clinical & therapeutic orientation on galactosemia].
Topics: Galactose; Galactosemias | 1957 |
Galactosaemia.
Topics: Galactose; Galactosemias | 1958 |
Congenital galactosaemia and mental health.
Topics: Galactose; Galactosemias; Mental Health | 1958 |
Congenital galactosemia.
Topics: Galactose; Galactosemias | 1958 |
Galactosemia: progress report on a family with three galactosemic members.
Topics: Galactose; Galactosemias; Humans; Research Report | 1958 |
[Galactosemia with a discussion of the peculiarity of galactose metabolism].
Topics: Carbohydrate Metabolism; Galactose; Galactosemias; Humans | 1957 |
[Secondary disorders of the proximal tubulus; cystinosis, galactosemia, Wilson's pseudosclerosis & renal glycogenosis].
Topics: Cystinosis; Galactose; Galactosemias; Glycogen Storage Disease; Hepatolenticular Degeneration; Humans; Kidney; Kidney Diseases; Metabolic Diseases | 1958 |
[Two cases of galactosemia].
Topics: Galactose; Galactosemias; Humans | 1958 |
Cataracts in galactosemia.
Topics: Cataract; Child; Galactose; Galactosemias; Humans; Infant | 1958 |
[Galactosemia; developmental modalities & biochemical investigations in 2 cases].
Topics: Galactose; Galactosemias | 1958 |
[Etiology of congenital galactosemia].
Topics: Galactose; Galactosemias | 1958 |
Studies of erythrocyte phosphate ester metabolism in galactosaemia.
Topics: Erythrocytes; Esters; Galactose; Galactosemias; Humans; Phosphates; Phosphoric Monoester Hydrolases | 1958 |
Enzyme deficiency diseases. I. Galactosemia.
Topics: Galactose; Galactosemias; Humans; Metabolic Diseases | 1958 |
Galactosemia: a case report.
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].
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.
Topics: Galactose; Galactosemias; Heterozygote | 1958 |
The lens in congenital galactosemia.
Topics: Fabaceae; Galactose; Galactosemias; Lens, Crystalline; Lenses | 1959 |
Congenital galactosemia; case report.
Topics: Galactose; Galactosemias | 1958 |
Jaundice associated with galactosemia in the newborn.
Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Jaundice | 1958 |
[Laboratory diagnosis of congenital galactosemia in newborn].
Topics: Clinical Laboratory Techniques; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases | 1959 |
Enzymatic deficiency in congenital galactosemia and its heterozygous carriers.
Topics: Galactose; Galactosemias; Heterozygote | 1958 |
Galactosemia presenting with gangrene.
Topics: Child; Galactose; Galactosemias; Gangrene; Humans; Infant | 1959 |
[Galactosemia; death despite supression of dietary galactose].
Topics: Death; Diet; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases | 1959 |
[Galactosemia; survival].
Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases | 1959 |
[Galactosemia and glycogen disease in children].
Topics: Galactose; Galactosemias; Glycogen; Glycogen Storage Disease | 1958 |
Galactosaemia: cerebral haemorrhage while on a galactose-free diet.
Topics: Cerebral Hemorrhage; Child; Diet; Galactose; Galactosemias; Humans; Infant | 1959 |
[A new disease, galactosemia].
Topics: Galactose; Galactosemias; Humans | 1959 |
Galactose metabolism and galactosemia.
Topics: Galactose; Galactosemias; Humans | 1959 |
The occurrence of a positive Coombs test in a case of galactosemia.
Topics: Coombs Test; Galactose; Galactosemias; Hemagglutination | 1959 |
Detection of carriers in hereditary galactosaemia.
Topics: Galactose; Galactosemias; Heterozygote | 1959 |
[Galactosemia in infants; a further case].
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.
Topics: Anemia, Hemolytic; Erythrocytes; Galactose; Galactosemias | 1959 |
Galactose intolerance in kwashiorkor.
Topics: Carbohydrate Metabolism; Galactose; Galactosemias; Kwashiorkor | 1961 |
Galactosemia. A family study.
Topics: Galactose; Galactosemias; Humans; Research | 1961 |
[On the biochemical genetics of galactosemia].
Topics: Galactose; Galactosemias; Genetics, Medical; Molecular Biology | 1961 |
Galactosaemia.
Topics: Galactose; Galactosemias; Humans | 1961 |
Further studies on the heterozygous carrier in galactosemia.
Topics: Galactose; Galactosemias; Heterozygote; Humans | 1960 |
The genetic mechanism of galactosaemia.
Topics: Galactose; Galactosemias; Genetic Therapy; Humans | 1960 |
Growth and development of children with galactosemia.
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].
Topics: Edema; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases | 1961 |
Effects of galactosemia.
Topics: Galactose; Galactosemias; Humans | 1960 |
[2 cases of galactosemia--favorable outcome].
Topics: Galactose; Galactosemias; Humans | 1961 |
The value of galactose phosphate determinations in the treatment of galactosaemia.
Topics: Galactose; Galactosemias; Humans; Phosphates | 1960 |
Galactosaemia.
Topics: Galactose; Galactosemias | 1961 |
Studies on cell lines developed from the tissues of patients with galactosemia.
Topics: Cell Line; Escherichia coli; Galactose; Galactosemias; Glucose; Humans; Kinetics; Tissue Culture Techniques | 1961 |
Galactosaemia. Report of a case.
Topics: Galactose; Galactosemias | 1960 |
[Galactosemia. A congenital enzyme defect and its demonstration].
Topics: Galactose; Galactosemias; Metabolic Diseases | 1960 |
[Galactosemia-servere neonatal form. Favorable result of a new dietetic product].
Topics: Dietetics; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases | 1959 |
Galactosemia. A genetic study of four generations by enzyme assay.
Topics: Enzyme Assays; Galactose; Galactosemias; Metabolic Diseases; Research | 1960 |
Galactosemia.
Topics: Galactose; Galactosemias; Humans | 1960 |
The enzymatic expression of heterozygosity in families of children with galactosemia.
Topics: Enzymes; Galactose; Galactosemias; Heterozygote; Metabolic Diseases | 1960 |
Genetic studies in galactosemia. I. The oral galactose tolerance test and the heterozygous state.
Topics: Galactose; Galactosemias; Heterozygote; Humans; Research | 1959 |
[Biochemical diagnosis of galactosemia].
Topics: Galactose; Galactosemias | 1959 |
Galactosemia with old adrenal hemorrhage and altered pancreatic secretion. Report of a case with necropsy.
Topics: Adrenal Gland Diseases; Adrenal Glands; Autopsy; Galactose; Galactosemias; Hemorrhage; Humans; Pancreatic Juice | 1962 |
A case of galactosaemia with the pathological and neuropathological findings.
Topics: Brain; Brain Diseases; Galactose; Galactosemias; Humans; Intellectual Disability; Nervous System Diseases; Neurologic Manifestations | 1962 |
Galactosemia; a study of two cases.
Topics: Galactose; Galactosemias | 1961 |
[Studies of glycide metabolism in galactosemia and fructosemia].
Topics: Carbohydrate Metabolism; Epoxy Compounds; Fructose; Fructose Intolerance; Galactose; Galactosemias; Humans; Metabolic Diseases; Propanols | 1962 |
[A new method for the detection of congenital galactosemia].
Topics: Galactose; Galactosemias; Humans | 1962 |
[Galactosemia and the hereditary intolerance to fructose].
Topics: Carbohydrate Metabolism; Fructose; Galactose; Galactosemias; Humans | 1962 |
[Galactosemia: early detection of a case].
Topics: Early Diagnosis; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases | 1961 |
Galactosaemia.
Topics: Galactose; Galactosemias | 1961 |
A study of the genetics of galactosaemia.
Topics: Galactose; Galactosemias; Humans | 1961 |
[Observations on galactosemia].
Topics: Galactose; Galactosemias; Humans | 1962 |
[Apropos of the galactose cataract].
Topics: Cataract; Galactose; Galactosemias; Humans | 1962 |
Insulin response to fructose and galactose.
Topics: Fructose; Galactose; Galactosemias; Humans; Hypoglycemia; Insulin | 1963 |
Beneficial effect of orotic acid upon galactose metabolism of erythrocytes from congenital galactosemia.
Topics: Carbohydrate Metabolism; Erythrocytes; Galactose; Galactosemias; Humans; Orotic Acid | 1962 |
Galactose metabolism: phenotypic differences among tissues of a patient with congenital galactosaemia.
Topics: Carbohydrate Metabolism; Galactose; Galactosemias; Humans | 1962 |
Insulin response to fructose and galactose.
Topics: Fructose; Galactose; Galactosemias; Glucose Tolerance Test; Humans; Insulin | 1963 |
A galactose-oxidase method for the determination of galactose in blood plasma.
Topics: Blood Chemical Analysis; Galactose; Galactose Oxidase; Galactosemias; Humans; Oxidoreductases; Plasma | 1962 |
Galactosemia: a study of twenty-seven kindreds in North America.
Topics: Galactose; Galactosemias; Humans; Metabolic Diseases; North America | 1962 |
Detection of congenital galactosemia and the carrier state using galactose C14 and blood cells.
Topics: Blood Cells; Carrier State; Galactose; Galactosemias | 1961 |
A clinical test for galactosemia. The galactose-methemoglobin test.
Topics: Erythrocytes; Galactose; Galactosemias; Hemoglobinometry; Humans; Methemoglobin | 1963 |
Variability in the clinical manifestations of galactosemia.
Topics: Galactose; Galactosemias | 1962 |
THE ESTIMATION OF BLOOD GALACTOSE USING A GLUCOSE OXIDASE-CATALASE REAGENT.
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].
Topics: Animals; Biological Transport; Carbohydrate Metabolism; Duodenum; Galactose; Galactosemias; Infusions, Parenteral; Jugular Veins; Portal Vein; Rabbits; Research; Urine | 1963 |
[GALACTOSEMIA].
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.
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.
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.
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].
Topics: Diagnosis; Diet; Diet Therapy; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Jaundice; Jaundice, Neonatal | 1964 |
CATION FLUXES IN GALACTOSAEMIC ERYTHROCYTES.
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.
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.
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.
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.
Topics: Biological Assay; Blood; Down Syndrome; Galactose; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; Nucleotidyltransferases; UTP-Hexose-1-Phosphate Uridylyltransferase | 1964 |
[PAPER CHROMATOGRAPHY OF URINARY SUGARS].
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.
Topics: Adenosine Triphosphate; Child; Erythrocytes; Galactose; Galactosemias; Glycerophosphates; Humans; Nucleotidyltransferases; Phosphates; Phosphorus Isotopes | 1965 |
[INVESTIGATIONS IN GALACTOSAEMIA CASES].
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.
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.
Topics: Adolescent; Carbohydrate Metabolism; Carbon Isotopes; Child; Galactose; Galactosemias; Humans; Radiometry | 1965 |
[GALACTOSE DISEASE].
Topics: Child; Clinical Laboratory Techniques; Diagnosis; Galactose; Galactosemias; Humans; Laboratories | 1965 |
POINT OF IRREVERSIBILITY OF GALACTOSE CATARACTS IN THE RAT.
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.
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.
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.
Topics: Blood Chemical Analysis; Chromatography; Erythrocytes; Galactose; Galactosemias; Hexosephosphates; Humans; Ion Exchange Resins; Phosphates | 1965 |
TRANSPLACENTAL GALACTOSE TOXICITY IN RATS.
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].
Topics: Blood; Galactose; Galactosemias; Humans | 1954 |
[Case of galactosemia in infant].
Topics: Blood; Galactose; Galactosemias; Humans; Infant; Infant, Newborn | 1954 |
Metabolic observations on the erythrocytes from cases of galactosaemia.
Topics: Blood; Erythrocytes; Galactose; Galactosemias; Humans | 1955 |
Galactosemia with cataracts; report of a case, with notes on physiopathology.
Topics: Aged; Cataract; Galactose; Galactosemias; Humans | 1955 |
A case of galactosaemia with special reference to mental development.
Topics: Galactose; Galactosemias; Humans; Intelligence | 1955 |
The amino-aciduria in galactosaemia.
Topics: Amino Acids; Galactose; Galactosemias; Humans; Urine | 1955 |
A study of the genetics of galactosaemia.
Topics: Galactose; Galactosemias; Heredity; Humans | 1955 |
Idiopathic galactose intolerance in a premature infant.
Topics: Carbohydrate Metabolism; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases | 1955 |
Low-lactose milk for congenital galactosaemia.
Topics: Animals; Blood; Breast; Galactose; Galactosemias; Humans; Lactose; Milk | 1955 |
[Diagnosis and therapy of galactosemia and phenylketonuria].
Topics: Blood; Body Fluids; Galactose; Galactosemias; Humans; Phenylalanine; Phenylketonurias; Urine | 1955 |
CONGENITAL galactosaemia.
Topics: Blood; Galactose; Galactosemias | 1955 |
Galactosaemia presenting with gangrene of the right foot.
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].
Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Galactosemias; Humans; Pentoses; Phenylketonurias; Sugar Alcohol Dehydrogenases; Xylulose | 1959 |
Studies on the heterozygous carrier in galactosemia.
Topics: Galactose; Galactosemias; Heterozygote; Humans | 1959 |
The treatment of congenital galactosaemia.
Topics: Diet; Diet Therapy; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases | 1959 |
Galactosemia.
Topics: Galactose; Galactosemias; Humans | 1960 |
[Latent form of galactosemia in an infant with defect of urinary acidification].
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.
Topics: Animals; Diet; Galactose; Galactosemias; Humans; Progesterone; Rats | 1960 |
A simplified diagnostic test for galactosemia.
Topics: Diagnostic Tests, Routine; Galactose; Galactosemias | 1960 |
[Determination of erythrocyte galactose-1-phosphate uridyltransferase in experimental galactosemia and variations induced by orotic acid].
Topics: Erythrocytes; Galactose; Galactosemias; Orotic Acid; Transferases; UTP-Hexose-1-Phosphate Uridylyltransferase | 1960 |
Galactosemia: clinical, genetic, and biochemical study.
Topics: Galactose; Galactosemias; Humans | 1961 |
Variability in the clinical manifestations of galactosemia.
Topics: Child; Galactose; Galactosemias; Infant; Metabolic Diseases | 1961 |
Hereditary galactosemia.
Topics: Carbohydrate Metabolism; Galactose; Galactosemias; Metabolic Diseases | 1962 |
The lens in human and experimental galactosemia.
Topics: Fabaceae; Galactose; Galactosemias; Humans; Lens, Crystalline; Lenses | 1962 |
[Galactosemia in infants. Apropos of a new familial case].
Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases | 1962 |
Galactosemia--a clinical and biochemical review; with report of a case.
Topics: Galactose; Galactosemias | 1962 |
Development and application of a simplified colorimetric method for detecting carriers of galactosemia.
Topics: Colorimetry; Galactose; Galactosemias; Genetic Carrier Screening; Humans | 1961 |
[On liver cirrhosis in an infant with galactosemia].
Topics: Child; Galactose; Galactosemias; Humans; Infant; Liver Cirrhosis | 1962 |
[Observations on galactosemia].
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.
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.
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.
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.
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.
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.
Topics: Galactose; Galactosemias; Humans | 1951 |
Galactosemia in infancy report of a case with observation for 24 months.
Topics: Galactose; Galactosemias; Humans; Infant | 1951 |
Galactosemia and its relation to Laennec's cirrhosis; review of the literature and presentation of six additional cases.
Topics: Galactose; Galactosemias; Humans; Liver Cirrhosis | 1951 |
Chronic galactosemia.
Topics: Galactose; Galactosemias; Humans; Metabolism | 1951 |
Human galactosemia cataract; report of a case.
Topics: Cataract; Galactose; Galactosemias | 1951 |
Galactosemia cataract; report of a case.
Topics: Aged; Cataract; Galactose; Galactosemias; Humans | 1951 |
Amino-aciduria in galactosaemia.
Topics: Galactose; Galactosemias | 1952 |
[Familial fatty degeneration of the liver associated with galactosemia].
Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Liver Diseases | 1951 |
Galactosaemia.
Topics: Child; Galactose; Galactosemias; Humans; Pediatrics | 1952 |
Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: clinical significance of portal vein imaging.
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.
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.
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.
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.
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].
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.
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.
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.
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.
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.
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.
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.
Topics: Erythrocytes; Female; Food, Formulated; Galactose; Galactosemias; Galactosephosphates; Humans; Infant Formula; Infant, Newborn; Infant, Newborn, Diseases | 2005 |
Dietary management of galactosemia.
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.
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.
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.
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.
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.
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.
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.
Topics: Adult; Carbon Isotopes; Galactose; Galactosemias; Humans; Male; Oxidation-Reduction; Phenotype | 2006 |
Of mice and men: galactosemia.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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)].
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.
Topics: Adult; Diagnosis, Differential; Female; Galactose; Galactosemias; Humans; Lactose Intolerance; Male; Reagent Strips | 1982 |
Clouds over galactosemia.
Topics: Female; Galactose; Galactosemias; Humans; Maternal-Fetal Exchange; Pregnancy; Prognosis | 1983 |
Galactose-specific elimination of human asialotransferrin by the bone marrow in the rabbit.
Topics: alpha-Fetoproteins; Animals; Asialoglycoproteins; Bone Marrow; Fetuins; Galactose; Galactosemias; Glycoproteins; Humans; Liver; Male; Orosomucoid; Rabbits; Transferrin | 1980 |
[Ovarian insufficiency in congenital galactosemia].
Topics: Adolescent; Child, Preschool; Female; Galactose; Galactosemias; Humans; Hypogonadism; Ovarian Diseases | 1984 |
Cataracts related to enzymes of galactose metabolism.
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.
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).
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.
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].
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.
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.
Topics: Animals; Galactose; Galactosemias; Kinetics; Liver; Liver Circulation; Models, Biological; Perfusion; Rats | 1983 |
Potential role of galactokinase in neonatal carbohydrate assimilation.
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.
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)].
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].
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].
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.
Topics: Escherichia coli; Fluorescence; Galactose; Galactosemias; Galactosephosphates; Hexosephosphates; Humans; NAD | 1981 |
A new method of screening for inherited disorders of galactose metabolism.
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.
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.
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.
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].
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.
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.
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.
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.
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].
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].
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.
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.
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.
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.
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.
Topics: Enzymes, Immobilized; Galactose; Galactose Oxidase; Galactosemias; Humans; Infant, Newborn | 1980 |
Functioning liver mass in uncomplicated and fulminant acute hepatitis.
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].
Topics: Galactose; Galactosemias; Humans; Liver Cirrhosis | 1980 |
Effects of anesthetic alcohols on membrane transport processes in human erythrocytes.
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?].
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.
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].
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Animals; Diabetes Mellitus, Experimental; Diabetic Retinopathy; Disease Models, Animal; Galactose; Galactosemias; Rats; Retina | 1995 |
Galactitol in galactosemia.
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.
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.
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.
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.
Topics: Biosensing Techniques; Galactose; Galactosemias; Humans; Polymers | 1995 |
Galactosemia produces ARI-preventable nodal changes similar to those of diabetic neuropathy.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Fruit; Galactose; Galactosemias; Humans; Infant; Infant Food; Vegetables | 1993 |
Current controversies about galactosemia.
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.
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.
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.
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.
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.
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.
Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Neonatal Screening; Reference Values | 1996 |
A mouse model of diabetic retinopathy.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Galactose; Galactosemias; Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Mass Screening; Phenylpropionates | 1999 |
Attenuation of sugar cataract by ethyl pyruvate.
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.
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.
Topics: alpha-Fetoproteins; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Liver; Mass Screening | 2000 |
Endothelins, their receptors, and retinal vascular dysfunction in galactose-fed rats.
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.
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.
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.
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.
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.
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.
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.
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.
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].
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.
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Cell Line; Galactose; Galactosemias; Hydrogen-Ion Concentration; Kinetics | 1976 |
A simple assay for galactokinase using DEAE-cellulose column chromatography.
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.
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].
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.
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.
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.
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.
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.
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.
Topics: Carbohydrate Metabolism, Inborn Errors; Cell Line; Female; Fibroblasts; Galactose; Galactosemias; Humans; Phosphotransferases; Pregnancy; Prenatal Diagnosis | 1975 |
Studies on the molecular defect in galactosemia.
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.
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].
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].
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)].
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.
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].
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].
Topics: Cataract; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Premature, Diseases; Phosphotransferases | 1976 |
Prenatal diagnosis of galactosemia.
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.
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.
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.
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.
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].
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].
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.
Topics: Animals; Chickens; Escherichia coli; Galactose; Galactosemias; Liver; Organ Size; Phagocytes; Phagocytosis; Spleen; Time Factors | 1977 |
Alterations of lens protein synthesis in galactosemic rats.
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.
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.
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].
Topics: Galactose; Galactosemias; Humans; Methods | 1979 |
Serum carbohydrate levels following galactose and galactose plus glucose given to rats.
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.
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.
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.
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.
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.
Topics: Animals; Female; Galactose; Galactosemias; Kinetics; Liver; Models, Biological; Perfusion; Rats | 1978 |
[Galactosemia and cow's milk intolerance (author's transl)].
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.
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].
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.
Topics: Adsorption; Animals; Charcoal; Cocos; Galactose; Galactosemias; Hemoperfusion; Kidneys, Artificial; Male; Petroleum; Rats | 1978 |
Reproducibility of the intravenous galactose tolerance test.
Topics: Galactose; Galactosemias; Humans; Methods | 1978 |
[Intravenous galactose overload as a test of hepatic function].
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].
Topics: Carbohydrate Metabolism, Inborn Errors; Galactose; Galactosemias; Humans; Infant; Intestinal Mucosa; Intestine, Small | 1978 |
[Galactosemia and its prenatal diagnosis].
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.
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)].
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.
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.
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.
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)].
Topics: Diagnosis, Differential; Diarrhea, Infantile; Galactose; Galactosemias; Hepatomegaly; Humans; Infant | 1976 |
Renal sugar transport in the winter flounder. I. Renal clearance studies.
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.
Topics: Female; Galactose; Galactosemias; Humans; Infant; Infant, Newborn; Male | 1976 |
Galactose-1-phosphate uridyl transferase in fibroblasts: isozymes in normal and variant states.
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)].
Topics: Erythrocytes; Female; Galactose; Galactosemias; Genes, Recessive; Humans; Infant, Newborn; Male; Nucleotidyltransferases; Pedigree | 1975 |
Rennes-like variant of galactosemia: clinical and biochemical studies.
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].
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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].
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].
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.
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.
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.
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.
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.
Topics: Child; Child, Preschool; Galactitol; Galactose; Galactosemias; Humans; Infant; Male | 1991 |
Bad taste.
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.
Topics: Fruit; Galactose; Galactosemias; Humans; Vegetables | 1991 |
Renal hemodynamics in experimentally galactosemic dogs and diabetic dogs.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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].
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.
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.
Topics: Anti-Bacterial Agents; False Positive Reactions; Galactose; Galactosemias; Humans; Spectrophotometry | 1990 |
Plasma 1,5-anhydroglucitol in experimental galactosemia in the rat.
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.
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.
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.
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.
Topics: Cells, Cultured; Fibroblasts; Galactose; Galactosemias; Glycoproteins; Humans | 1990 |
Gonadal function and ovarian galactose metabolism in classic galactosemia.
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.
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.
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.
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].
Topics: Galactose; Galactosemias; Humans; Spectrophotometry | 1989 |
Newborn screening for galactosemia: a new method used in Manitoba.
Topics: Galactose; Galactosemias; Galactosephosphates; Humans; Infant, Newborn; Manitoba; Mass Screening | 1989 |
Galactose metabolism in human ovarian tissue.
Topics: Adult; Aged; Female; Galactose; Galactosemias; Humans; Hypogonadism; Middle Aged; Ovary | 1989 |
Hyperglycemia as a cause of diabetic retinopathy.
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.
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.
Topics: Adult; Female; Follicle Stimulating Hormone; Galactose; Galactosemias; Humans; Luteinizing Hormone; Ovarian Diseases; Ovary | 1986 |
r-Galactonolactone in experimental galactosemic animals.
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.
Topics: Adolescent; Adult; Bicarbonates; Fanconi Syndrome; Galactose; Galactosemias; Glycogen Storage Disease; Humans; Hyperlipidemias; Kidney Tubules; Male; Phosphates; Uric Acid | 1987 |
Transient neonatal galactosaemia.
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.
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.
Topics: Analysis of Variance; Animals; Blood Glucose; Female; Galactose; Galactosemias; Humans; Infant Food; Infant, Newborn; Liver Function Tests; Male; Milk; Milk, Human | 1988 |
[Galactosemia].
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.
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.
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].
Topics: Adult; Blood Glucose; Female; Galactitol; Galactose; Galactosemias; Glucose; Humans; Insulin; Male; Sugar Alcohols | 1986 |
Galactose tolerance in patients with atopic cataracts.
Topics: Adolescent; Adult; Cataract; Child; Eczema; Galactose; Galactosemias; Humans; Lens, Crystalline | 1987 |
Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia.
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.
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.
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.
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.
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.
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.
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].
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.
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.
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.
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.
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.
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].
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.
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].
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].
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.
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)].
Topics: Blood Glucose; Child; Galactose; Galactosemias; Humans; Methods; NAD; Oxidoreductases | 1970 |
[Hereditary defects of fructose and galactose metabolism].
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.
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.
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)].
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].
Topics: Carbon Radioisotopes; Chromatography, Paper; Erythrocytes; Galactose; Galactosemias; Hemolysis; Heterozygote; Humans; Phosphotransferases | 1973 |
[Enzymatic methods for the diagnosis of galactosemia and galactose deficiency].
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.
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.
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.
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.
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].
Topics: Galactose; Galactosemias; Humans; Hypoglycemia; Infant; Transferases | 1974 |
Aspects of galactose metabolism in normal and galactosemic cell cultures.
Topics: Cell Line; Fibroblasts; Galactose; Galactosemias; Humans | 1972 |
Re-evaluation of a galactosemic family by enzymatic and electrophoretic methods.
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.
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.
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].
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?].
Topics: Administration, Oral; Adult; Capillaries; Female; Galactose; Galactosemias; Humans; Intestinal Absorption; Malabsorption Syndromes; Male | 1972 |
Galactokinase-deficiency cataracts in identical twins.
Topics: Cataract; Diseases in Twins; Erythrocytes; Female; Galactose; Galactosemias; Humans; Infant; Metabolism, Inborn Errors; Phosphotransferases | 1972 |
Plasma insulin and growth hormone in galactosemia.
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.
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].
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.
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.
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.
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.
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.
Topics: Cataract; Diet Therapy; Erythrocytes; Galactose; Galactosemias; Heterozygote; Humans; Infant; Infant, Newborn; Lens, Crystalline; Nucleotidyltransferases; Phosphotransferases | 1973 |
Urinary galactitol in galactosemic patients.
Topics: Diet; Dietary Proteins; Erythrocytes; Galactitol; Galactose; Galactosemias; Humans; Phosphates; Sugar Alcohols; Time Factors | 1973 |
[Influence of dihydroergotamine on the induced galactosemia-galactosuria test].
Topics: Adult; Ergotamine; Female; Galactose; Galactosemias; Glucose; Humans; Liver; Male | 1973 |
Pitfalls in the diagnosis of galactosemia.
Topics: Clinical Enzyme Tests; Diagnostic Errors; Erythrocytes; Galactose; Galactosemias; Genetic Counseling; Genotype; Humans; Transferases | 1973 |
The metabolism of galactose by galactosemic fibroblasts in vitro.
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.
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)].
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.
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].
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.
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.
Topics: Amniocentesis; Amniotic Fluid; Autoradiography; Fibroblasts; Galactose; Galactosemias; Humans; Hydrogen-Ion Concentration; Lactones; Sugar Acids; Tritium | 1974 |
Letter: Negative urine sugars in galactosemia.
Topics: Adolescent; Cataract; Galactose; Galactosemias; Hexosephosphates; Humans; Infant; Nucleotidyltransferases; Uracil Nucleotides | 1974 |
Interference with growth of galactokinase-less Escherichia coli mutants by galactose.
Topics: Escherichia coli; Galactose; Galactosemias; Genetics, Microbial; Molecular Biology; Mutation; Phosphotransferases | 1967 |
Galactosemia screening of newborns in Massachusetts.
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.
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.
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].
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.
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 .
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].
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?
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].
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.
Topics: Adenosine Triphosphate; Animals; Biological Transport, Active; Brain; Carbon Isotopes; Chickens; Disease Models, Animal; Galactose; Galactosemias; Glucose | 1972 |
Galactose utilization in galactosemia.
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].
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.
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.
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.
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].
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.
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].
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].
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)].
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)].
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.
Topics: Carbon Isotopes; Erythrocytes; Galactose; Galactosemias; Hexosephosphates; Humans; In Vitro Techniques; Kinetics; Molecular Biology; Nucleotidyltransferases; Phosphotransferases; Uracil Nucleotides | 1967 |
[Metabolism of galactose in children].
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].
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.
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.
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].
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].
Topics: Alcohol Oxidoreductases; Analysis of Variance; Autoanalysis; Blood Chemical Analysis; Galactose; Galactosemias; Methods | 1969 |
[Relation between galactose and the crystalline lens].
Topics: Cataract; Galactose; Galactosemias; Humans; Lens, Crystalline; Nucleotidyltransferases; Phosphates; Phosphotransferases | 1969 |
[From genes to enzymes: galactosemia].
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.
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].
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].
Topics: Deficiency Diseases; Galactose; Galactosemias; Humans; Infant, Newborn; Mass Screening; Methods | 1970 |
Long-term follow-up of galactosaemia.
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.
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.
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.
Topics: Adult; Aged; Arteries; Capillaries; Female; Galactose; Galactosemias; Humans; Injections, Intravenous; Liver Cirrhosis; Male; Middle Aged; Veins | 1970 |
[Galactosemia urine--screening with test paper].
Topics: False Positive Reactions; Female; Galactose; Galactosemias; Humans; Infant, Newborn; Infant, Newborn, Diseases; Male; Methods; Time Factors | 1970 |
A patient with hereditary galactokinase deficiency.
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.
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].
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].
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.
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].
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.
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.
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.
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.
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].
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.
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].
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.
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.
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].
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.
Topics: Animals; Breast Feeding; Diet; Female; Galactose; Galactosemias; Hepatomegaly; Humans; Infant, Newborn; Mass Screening; Milk; Phosphotransferases; Splenomegaly | 1968 |
[Our present knowledge of galactosemia].
Topics: Child; Diagnosis, Differential; Diet Therapy; Galactose; Galactosemias; Humans; Nucleotidyltransferases; Orotic Acid | 1968 |
Sugars in blood and urine of milk-fed normal young infants.
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.
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.
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.
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.
Topics: Chromatography, Ion Exchange; Galactose; Galactosemias; Hexosephosphates; Ion Exchange Resins; Methods | 1969 |
[Studies on a family with galactosemia].
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].
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.
Topics: Chemical Phenomena; Chemistry; Electrophoresis; Erythrocytes; Female; Galactose; Galactosemias; Hemolysis; Humans; Infant; Male; Nucleotidyltransferases; Uracil Nucleotides | 1969 |
Galactose in the urine of newborn infants.
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.
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?
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.
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.
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].
Topics: Female; Galactose; Galactosemias; Humans; Isomerases; Liver Diseases; Liver Function Tests; Middle Aged | 1965 |
The distribution of galactitol in tissues of rats fed galactose.
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.
Topics: Animals; Carbon Isotopes; Cataract; Galactose; Galactosemias; Humans; Orotic Acid; Rats | 1966 |
Orotic acid and experimental galactosemia.
Topics: Animals; Blood; Chromatography; Galactose; Galactosemias; Orotic Acid; Rats; Urine | 1966 |
Alternate metabolic pathway in galactosemia. Observations in patient with galactosemia.
Topics: Adolescent; Carbon Isotopes; Chromatography, Gas; Galactose; Galactosemias; Glucose; Humans; Infant, Newborn; Male; Urine | 1966 |
Galactitol in the tissues of a galactosemic child.
Topics: Galactose; Galactosemias; Humans; Infant, Newborn; Male | 1966 |
Galactose metabolism in the sea lion.
Topics: Animals; Carnivora; Drug Tolerance; Galactose; Galactosemias; Liver; Models, Theoretical; Nucleotidyltransferases | 1966 |
Test paper for galactose in urine.
Topics: Alcohol Oxidoreductases; Chemistry, Clinical; Galactose; Galactosemias; Humans; Indicators and Reagents; Paper; Peroxidases | 1966 |
[Galactoseuria].
Topics: Galactose; Galactosemias; Humans | 1966 |
Experimental galactosemia produces diabetic-like retinopathy.
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.
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.
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.
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?
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.
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].
Topics: Blood Proteins; Galactosemias; Hexoses; Humans; Mannose; Mucoproteins; Protein Binding; Respiratory Tract Diseases | 1974 |