| Excerpt | Reference |
|---|
| "However, galactosemia is about 250 mg p." | ( Adrian, J; David, C; Poiffait, A, 1982) |
| "Galactokinase deficiency is an inborn error in the first step of galactose metabolism." | ( Aneva, L; Angelicheva, D; Bosshard, NU; Dye, D; Gitzelmann, R; Hallmayer, J; Jordanova, A; Kalaydjieva, L; Kremensky, I; Markov, A; Nedkova, V; Onengut, S; Perez-Lezaun, A; Radeva, B; Savov, A; Tournev, I; Yanakiev, P, 1999) |
| "Galactokinase deficiency is an inborn error of galactose metabolism whose major clinical manifestation is the development of cataracts during the first months of life." | ( Angelicheva, D; Hunter, M; Kalaydjieva, L; Levy, HL; Pueschel, SM, 2001) |
| "Galactosemia is an inherited disorder characterized by an inability to metabolize galactose." | ( Fridovich-Keil, JL; Holden, HM; Thoden, JB; Wohlers, TM, 2001) |
| "Galactosemia is a rare inborn error of metabolism, which if detected can be treated effectively." | ( Gnanou, JV; Thykadavil, VG; Uthappa, S, 2001) |
| "Galactokinase deficiency is an inborn error of metabolism that, if untreated, results in the development of cataracts in the first weeks of life." | ( Angelicheva, D; Austerlitz, F; Balogh, I; Bosshard, N; Briones, P; Corches, A; de Pablo, R; Gata, A; Gitzelmann, R; Heyer, E; Hunter, M; Kalaydjieva, LV; Kalmar, L; László, A; Lupu, C; Nedkova, V; Perez-Lezaun, A; Popa, G; Szalai, C; Tordai, A, 2002) |
| "Classic galactosemia is due to the deficiency of galactose-1-phosphate uridyl transferase and is transmitted as an autosomal recessive disorder." | ( Bhat, PJ, 2003) |
| "Classical galactosemia is an autosomal recessive disorder resulting from deficient galactose-1-phosphateuridyl transferase (GALT) activity." | ( Elsas, LJ; Kennedy, MJ; Singh, RH; Webb, AL, 2003) |
| "Galactosemia is a genetic disease with deficiency of galactose-1-uridyltransferase, resulting in the accumulation of galactose or galactose-1-phosphate in the blood and tissues." | ( Cheng, LY; Cheung, AL; Lai, KW; O, WS, 2003) |
| "Epimerase deficiency galactosemia is an autosomal recessive condition resulting from the impairment of UDP-galactose 4'-epimerase (hGALE)." | ( Fridovich-Keil, JL; Holden, HM; Lucas, ME; Thoden, JB; Wasilenko, J, 2005) |
| "Galactosemia is detected by newborn screening in New South Wales and managed by the metabolic team at the Children's Hospital at Westmead." | ( Allen, JR; Arrowsmith, FE; Thompson, SM, 2003) |
| "Classical galactosemia is an inherited disorder of galactose metabolism." | ( Menheere, PPCA; Nieman, FHM; Panis, B; Rubio-Gozalbo, ME; Spaapen, LJ; van Kroonenburgh, MJPG; Vermeer, C, 2006) |
| "Galactosemia is a secondary glycosylation disorder and hypoglycosylation of glycoproteins has a role in this dysfunction." | ( Menheere, PP; Panis, B; Rubio-Gozalbo, ME; Spaapen, LJ; Zimmermann, LJ, 2006) |
| "Classic galactosemia is caused by impaired galactose-1-phosphate uridyltransferase (GALT EC 2." | ( Barbouth, DS; Carver, VH; Elsas, LJ; Konopka, S; Velazquez, DL; Wilkinson, JJ, 2007) |
| "Classical galactosemia is the most common and the most severe of these diseases and is caused by deficiency of the GALT enzyme, affecting from approximately 1 in 10,000 to 1 in 30,000 live births." | ( Cuthbert, C; Elsas, L; Klapper, H, 2008) |
| "Hereditary galactosemia is a biochemical genetic disease due to a deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme activity (OMIM 606999)." | ( Berry, GT, 2008) |
| "Classic galactosemia is an inherited metabolic disease resulting from galactose-1-phosphate uridyltransferase (GALT) deficiency." | ( Ambroszkiewicz, J; Chełchowska, M; Gajewska, J; Laskowska-Klita, T; Milanowski, A; Ołtarzewski, M; Radomyska, B, 2008) |
| "Galactosemia is one of the most important inherited disorders detected by newborn screening tests." | ( Jun, SH; Kim, JQ; Ko, DH; Park, HD; Park, KU; Song, J; Song, SH; Song, YH, 2010) |
| "Galactosemia is one of the rare inborn errors of metabolism, which if detected early can be treated effectively." | ( Bharti, B; Inusha, P; Verma, S, 2010) |
| "Galactosemia is an autosomal recessive disorder of galactose metabolism." | ( Kaur, G; Kulkarni, K; Prasad, R; Singh, R; Thapa, BR, 2011) |
| "Galactosemia is one of the most important inherited metabolic disorders detected by newborn screening tests." | ( Jun, SH; Kim, JQ; Ko, DH; Park, KU; Song, J; Song, SH, 2011) |
| "Classical galactosemia is a rare but very severe disease characterized by a deficiency of the galactose-1-phosphate uridyltransferase enzyme." | ( Barbagallo, L; Barco, S; Biasucci, G; Cangemi, G; Di Rocco, M; Giovannini, M; Lia, R; Melioli, G; Paci, S, 2012) |
| "Classic galactosemia is an autosomal recessive disorder of carbohydrate metabolism, due to a severe deficiency of the enzyme, galactose-1-phosphate uridyltransferase (GALT), that catalyzes the conversion of galactose-1-phosphate and uridine diphosphate glucose (UDPglucose) to uridine diphosphate galactose (UDPgalactose) and glucose-1-phosphate." | ( Berry, GT, 2012) |
| "Classic galactosemia is a potentially lethal metabolic disorder that results from profound impairment of the enzyme galactose-1-phosphate uridylyltransferase (GALT); despite decades of research, the underlying mechanism of pathophysiology remains unclear." | ( Berry, GT; Castañeda, U; Fridovich-Keil, JL; Gleason, TJ; He, M; Liu, Y; Xia, B, 2012) |
| "Classic galactosemia is a genetic disorder that results from profound loss of galactose-1P-uridylyltransferase (GALT)." | ( Fridovich-Keil, JL; Hang, D; Hopson, ML; Jones, DP; Jumbo-Lucioni, PP; Liang, Y, 2013) |
| "Classical galactosemia is a genetic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene." | ( Kaur, G; Prasad, R; Singh, R; Thapa, BR, 2012) |
| "Classical Galactosemia is an autosomal recessive disorder of galactose metabolism caused by severe reduction or absence of the galactose-1-phosphate uridyl transferase (GALT) enzyme." | ( Kaur, G; Prasad, R; Singh, R; Thapa, BR, 2012) |
| "Classical galactosemia is an autosomal recessive inborn error of metabolism leading to toxic accumulation of galactose and derived metabolites." | ( Bhatia, KP; Burke, D; Carecchio, M; Chandrashekar, HS; Edwards, MJ; Footitt, EJ; Kojovic, M; Lachmann, RH; Murphy, E; Parees, I; Rubio-Agusti, I, 2013) |
| "Classic galactosemia is an autosomal recessive disorder caused by deficient galactose-1-phosphate uridylyltransferase (GALT) activity." | ( 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, 2014) |
| "Galactosemia is an autosomal recessive disorder with a wide range of clinical abnormalities." | ( Al-Essa, M; Al-Qabandi, W; Dhaunsi, GS; Khan, I, 2013) |
| "Galactosemia is a rare disease that is diagnosed through the identification of different metabolite profiles." | ( Alonso-Fernández, JR; Escarpa, A; García, M, 2013) |
| "Classic galactosemia is a human autosomal recessive disorder caused by mutations in the GALT gene (GAL7 in yeast), which encodes the enzyme galactose-1-phosphate uridyltransferase." | ( da-Silva, WS; De-Souza, EA; Machado, CM; Martins, LS; Masuda, CA; Montero-Lomelí, M; Pimentel, FS, 2014) |
| "Type III galactosemia is an inherited disease caused by mutations which affect the activity of UDP-galactose 4'-epimerase (GALE)." | ( Mesa-Torres, N; Padín-Gonzalez, E; Pey, AL; Timson, DJ, 2014) |
| "Galactosemia is an inborn error of galactose metabolism that occurs mainly as the outcome of galactose-1-phosphate uridyltransferase (GALT) deficiency." | ( Ciampo, LA; Ferrioli, E; Junior, JS; Pfrimer, K; Porta, G; Resende-Campanholi, DR, 2015) |
| "Galactosemia is an inborn error of metabolism resulting in premature ovarian insufficiency in 80-90% of females." | ( Connor, E; Davies, P; Jamieson, MA; MacKenzie, J, 2015) |
| "Classical galactosemia is caused by severe galactose-1-phosphate uridyltransferase deficiency." | ( Clark, A; Coss, KP; Crushell, E; Doran, P; Knerr, I; Kratzsch, J; Rudd, PM; Shin, Y; Stöckmann, H; Treacy, E, 2015) |
| "Classic galactosemia is a potentially lethal disease caused by the dysfunction of galactose 1-phosphate uridylyltransferase (GALT)." | ( Chalk, R; Fitzpatrick, F; Kopec, J; McCorvie, TJ; Patel, D; Pey, AL; Shrestha, L; Yue, WW, 2016) |
| "Galactosemia is a severe metabolic disorder known to cause hepatosplenomegaly, jaundice and cataracts in neonates, and many patients develop later complications such as mental retardation, disorders of motor function or speech, and hypergonadotrophic hypogonadism." | ( Al-Essa, M; Dhaunsi, GS, 2016) |
| "The galactosemias are a family of autosomal recessive genetic disorders resulting from impaired function of the Leloir pathway of galactose metabolism." | ( Daenzer, JM; Fridovich-Keil, JL, 2017) |
| "Classic galactosemia is an inborn error of metabolism caused by deleterious mutations in the GALT gene." | ( De-Queiroz, ALFV; De-Souza, EA; Gomes, FM; Machado, CM; Masuda, CA; Montero-Lomelí, M; Pimentel, FSA; Silva, GFS, 2017) |
| "Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway." | ( Coelho, AI; Rivera, I; Rubio-Gozalbo, ME; Vicente, JB, 2017) |
| "Classic Galactosemia is an autosomal recessive disorder caused by deleterious mutations in the GALT gene, which encodes galactose-1 phosphate uridylyltransferase enzyme (GALT: EC 2." | ( Balakrishnan, B; Bales, E; Chen, W; Feng, M; Johnson, J; Lai, K; Nicholas, C; Siddiqi, A, 2017) |
| "Classical galactosemia is an inherited disorder of the carbohydrate metabolism, most often caused by the deficient activity of the enzyme galactose-1-phosphate-uridyltransferase." | ( Balogh, L; Kiss, E; Reismann, P, 2017) |
| "Hereditary galactosemia is an inborn error of carbohydrate metabolism." | ( Berry, GT; Coelho, AI; Demirbas, D; Rubio-Gozalbo, ME, 2018) |
| "Galactosemia is a potential cause of extreme neonatal hyperbilirubinemia, ABE, and KSD." | ( Bech, LF; Donneborg, ML; Ebbesen, F; Lund, AM, 2018) |
| "Galactosemia is caused by metabolic disturbances at various stages of galactose metabolism, including deficiencies in enzymes involved in the Leloir pathway (GALT, GALK1, and GALE)." | ( 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, 2019) |
| "Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need." | ( 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, 2018) |
| "GALT deficiency is a rare genetic disorder of carbohydrate metabolism." | ( Berry, GT; Daesety, V; Demirbas, D; Feenstra, S; Gubbels, CS; Haskovic, M; Hecht, L; Huang, X; Levy, HL; Qi, W; Waisbren, SE, 2019) |
| "Galactosemia is a metabolic disorder that affects the appropriate metabolism of β-D-galactose." | ( Arai-Ichinoi, N; Iwasawa, S; Kikuchi, A; Kure, S; Sakamoto, O; Tamiya, G; Wada, Y, 2019) |
| "Galactosemia is an inborn error of carbohydrate metabolism caused by deficient activity of any of the galactose metabolising enzymes." | ( Berry, GT; Bierau, J; Coelho, AI; Haskovic, M; Rubio-Gozalbo, ME; Steinbusch, LKM; Vanoevelen, JM; Villamor-Martinez, E; Zimmermann, LJI, 2020) |
| "Type I galactosemia is a very rare autosomal recessive genetic metabolic disorder that occurs because of the mutations present in the galactose-1-phosphate uridyl transferase (GALT) gene, resulting in a deficiency of the GALT enzyme." | ( Doss C, GP; Kumar D, T; Kumar S, U; R, S; Zayed, H, 2020) |
| "Galactosemia is the inherited inability to metabolise galactose." | ( Timson, DJ, 2020) |
| "Galactosemia is a rare autosomal recessive genetic disorder that causes impaired metabolism of the carbohydrate galactose." | ( Dženkaitis, M; Kučinskienė, R; Labanauskas, L; Rokaitė, R; Traberg, R, 2020) |
| "Type IV galactosemia is a recently discovered inherited metabolic disease." | ( Banford, S; Timson, DJ, 2021) |
| "Classic galactosemia is an inborn error of metabolism associated with mutations that impair the activity and the stability of galactose-1-phosphate uridylyltransferase (GALT), catalyzing the third step in galactose metabolism." | ( Catapano, L; D'Urso, G; Marabotti, A; Scafuri, B; Tammone, C; Verdino, A, 2021) |
| "Classic galactosemia is an inborn error of carbohydrate metabolism associated with early-onset primary ovarian insufficiency (POI) in young women." | ( Andrews, A; Appiah, L; Hagen-Lillevik, S; Johnson, J; Lai, K; Longo, N; Rushing, JS, 2021) |
| "Classic galactosemia is an inborn error of metabolism caused by deleterious mutations on the GALT gene, which encodes the Leloir pathway enzyme galactose-1-phosphate uridyltransferase." | ( De-Queiroz, ALFV; De-Souza, EA; Del Poeta, M; Fernandes, CM; Machado, CM; Masuda, CA; Montero-Lomeli, M; Pimentel, FSA; Silva, GFS, 2022) |
| "Galactosemia is an inborn disorder of carbohydrate metabolism characterized by the inability to metabolize galactose, a sugar contained in milk (the main source of nourishment for infants), and convert it into glucose, the sugar used by the body as the primary source of energy." | ( Parenti, G; Rossi, A; Ruoppolo, M; Sacchettini, R; Succoio, M, 2022) |
| "Galactosemia is associated with progressive primary ovarian insufficiency (POI) and early intervention with ovarian tissue cryopreservation may help preserve fertility." | ( Christison-Lagay, E; Gunther, K; Oktay, KH; Rodriguez-Buritica, DF; Saluja, S; Szymanska-Vandendriessche, K; Vash-Margita, A, 2022) |
| "Classic Galactosemia is caused by mutations in the GALT gene encoding the enzyme galactose-1 phosphate uridylyltransferase." | ( Hagen-Lillevik, S; Johnson, J; Lai, K, 2022) |
| "Classic Galactosemia is caused by mutations in the GALT gene encoding the enzyme galactose-1 phosphate uridylyltransferase." | ( Hagen-Lillevik, S; Johnson, J; Lai, K, 2022) |
| "Classic Galactosemia is caused by mutations in the GALT gene encoding the enzyme galactose-1 phosphate uridylyltransferase." | ( Hagen-Lillevik, S; Johnson, J; Lai, K, 2022) |
| "Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness." | ( Abu Salah, N; Almashanu, S; Anikster, Y; Barel, O; Daas, S; Damseh, NS; Dumin, E; Falik-Zaccai, TC; Fattal-Valevski, A; Habib, C; Josefsberg, S; Kneller, K; Korman, SH; Landau, Y; Lerman-Sagie, T; Mandel, H; Manor, Y; Moady Abdalla, T; Rock, R; Rostami, N; Saada, A; Saraf-Levy, T; Shaul Lotan, N; Spiegel, R; Staretz-Chacham, O; Tal, G; Ulanovsky, I; Vaisid, T; Wilnai, Y, 2023) |
| "Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness." | ( Abu Salah, N; Almashanu, S; Anikster, Y; Barel, O; Daas, S; Damseh, NS; Dumin, E; Falik-Zaccai, TC; Fattal-Valevski, A; Habib, C; Josefsberg, S; Kneller, K; Korman, SH; Landau, Y; Lerman-Sagie, T; Mandel, H; Manor, Y; Moady Abdalla, T; Rock, R; Rostami, N; Saada, A; Saraf-Levy, T; Shaul Lotan, N; Spiegel, R; Staretz-Chacham, O; Tal, G; Ulanovsky, I; Vaisid, T; Wilnai, Y, 2023) |
| "Galactosemia is an inborn metabolic disorder caused by a deficient activity in one of the enzymes involved in the metabolism of galactose." | ( Achim, AC; Badiu Tișa, I; Cozma-Petruț, A, 2022) |