These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
24. Relationship between genotype, activity, and galactose sensitivity in yeast expressing patient alleles of human galactose-1-phosphate uridylyltransferase. Riehman K; Crews C; Fridovich-Keil JL J Biol Chem; 2001 Apr; 276(14):10634-40. PubMed ID: 11152465 [TBL] [Abstract][Full Text] [Related]
25. Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach. Freer DE; Ficicioglu C; Finegold D Clin Chem; 2010 Mar; 56(3):437-44. PubMed ID: 20075179 [TBL] [Abstract][Full Text] [Related]
26. Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia. Schuster V; Podskarbi T; Ottensmeier H; Haubner M; Shin YS J Mol Med (Berl); 1998 Sep; 76(10):715-9. PubMed ID: 9766850 [TBL] [Abstract][Full Text] [Related]
27. Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia. Ryan EL; Lynch ME; Taddeo E; Gleason TJ; Epstein MP; Fridovich-Keil JL J Inherit Metab Dis; 2013 Nov; 36(6):1049-61. PubMed ID: 23319291 [TBL] [Abstract][Full Text] [Related]
28. Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure. Grama A; Blaga L; Nicolescu A; Deleanu C; Militaru M; Căinap SS; Pop I; Tita G; Sîrbe C; Fufezan O; Vințan MA; Vulturar R; Pop TL Medicina (Kaunas); 2019 Apr; 55(4):. PubMed ID: 30987402 [TBL] [Abstract][Full Text] [Related]
29. Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia. Jumbo-Lucioni PP; Hopson ML; Hang D; Liang Y; Jones DP; Fridovich-Keil JL Dis Model Mech; 2013 Jan; 6(1):84-94. PubMed ID: 22773758 [TBL] [Abstract][Full Text] [Related]
30. Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. Viggiano E; Marabotti A; Burlina AP; Cazzorla C; D'Apice MR; Giordano L; Fasan I; Novelli G; Facchiano A; Burlina AB Gene; 2015 Apr; 559(2):112-8. PubMed ID: 25592817 [TBL] [Abstract][Full Text] [Related]
31. GALT Deficiency Galactosemia. Anderson S MCN Am J Matern Child Nurs; 2018; 43(1):44-51. PubMed ID: 29215423 [TBL] [Abstract][Full Text] [Related]
32. Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish. Haskovic M; Coelho AI; Lindhout M; Zijlstra F; Veizaj R; Vos R; Vanoevelen JM; Bierau J; Lefeber DJ; Rubio-Gozalbo ME J Inherit Metab Dis; 2020 Sep; 43(5):994-1001. PubMed ID: 32441338 [TBL] [Abstract][Full Text] [Related]
33. Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemia. Daenzer JMI; Druss JJ; Fridovich-Keil JL J Inherit Metab Dis; 2024 Jul; ():. PubMed ID: 38960603 [TBL] [Abstract][Full Text] [Related]
34. The molecular biology of galactosemia. Elsas LJ; Lai K Genet Med; 1998; 1(1):40-8. PubMed ID: 11261429 [TBL] [Abstract][Full Text] [Related]
35. N- and O-linked glycosylation of total plasma glycoproteins in galactosemia. Liu Y; Xia B; Gleason TJ; Castañeda U; He M; Berry GT; Fridovich-Keil JL Mol Genet Metab; 2012 Aug; 106(4):442-54. PubMed ID: 22743281 [TBL] [Abstract][Full Text] [Related]
36. Galactose-1-phosphate inhibits cytochrome c oxidase and causes mitochondrial dysfunction in classic galactosemia. Machado CM; de-Souza-Ferreira E; Silva GFS; Pimentel FSA; De-Souza EA; Silva-Rodrigues T; Gandara ACP; Zeidler JD; Fernandes-Siqueira LO; De-Queiroz ALFV; Andrade-Silva L; Victória-Martins K; Fernandes-Carvalho C; Chini EN; Passos JF; Da Poian AT; Montero-Lomelí M; Galina A; Masuda CA Biochim Biophys Acta Mol Basis Dis; 2024 Oct; 1870(7):167340. PubMed ID: 38986816 [TBL] [Abstract][Full Text] [Related]
38. A case report of classic galactosemia with a GALT gene variant and a literature review. Wang YC; Lan LC; Yang X; Xiao J; Liu HX; Shan QW BMC Pediatr; 2024 May; 24(1):352. PubMed ID: 38778342 [TBL] [Abstract][Full Text] [Related]
39. Effect of genotype on galactose-1-phosphate in classic galactosemia patients. Yuzyuk T; Balakrishnan B; Schwarz EL; De Biase I; Hobert J; Longo N; Mao R; Lai K; Pasquali M Mol Genet Metab; 2018 Nov; 125(3):258-265. PubMed ID: 30172461 [TBL] [Abstract][Full Text] [Related]
40. Classic Galactosemia: Study on the Late Prenatal Development of GALT Specific Activity in a Sheep Model. Coelho AI; Bierau J; Lindhout M; Achten J; Kramer BW; Rubio-Gozalbo ME Anat Rec (Hoboken); 2017 Sep; 300(9):1570-1575. PubMed ID: 28545161 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]