271 related articles for article (PubMed ID: 16385452)
21. Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia.
Chhay JS; Vargas CA; McCorvie TJ; Fridovich-Keil JL; Timson DJ
J Inherit Metab Dis; 2008 Feb; 31(1):108-16. PubMed ID: 18188677
[TBL] [Abstract][Full Text] [Related]
22. Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
Wohlers TM; Christacos NC; Harreman MT; Fridovich-Keil JL
Am J Hum Genet; 1999 Feb; 64(2):462-70. PubMed ID: 9973283
[TBL] [Abstract][Full Text] [Related]
23. A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.
Liu Y; Bentler K; Coffee B; Chhay JS; Sarafoglou K; Fridovich-Keil JL
JIMD Rep; 2013; 7():89-98. PubMed ID: 23430501
[TBL] [Abstract][Full Text] [Related]
24. Positive correlation between galactose-1-phosphate uridyltransferase (GALT) and UDP-galactose-4'-epimerase (GALE) activities.
Prodan-Zitnik I; Karas-Kuzelicki N; Lukac-Bajalo J
Clin Biochem; 2009 Oct; 42(15):1561-4. PubMed ID: 19616531
[TBL] [Abstract][Full Text] [Related]
25. Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase.
Daude N; Gallaher TK; Zeschnigk M; Starzinski-Powitz A; Petry KG; Haworth IS; Reichardt JK
Biochem Mol Med; 1995 Oct; 56(1):1-7. PubMed ID: 8593531
[TBL] [Abstract][Full Text] [Related]
26. Drosophila melanogaster Models of Galactosemia.
Daenzer JM; Fridovich-Keil JL
Curr Top Dev Biol; 2017; 121():377-395. PubMed ID: 28057307
[TBL] [Abstract][Full Text] [Related]
27.
Marín-Quílez A; Di Buduo CA; Benito R; Balduini A; Rivera J; Bastida JM
Platelets; 2023 Dec; 34(1):2176699. PubMed ID: 36846897
[TBL] [Abstract][Full Text] [Related]
28. Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
Thoden JB; Wohlers TM; Fridovich-Keil JL; Holden HM
J Biol Chem; 2001 Jun; 276(23):20617-23. PubMed ID: 11279193
[TBL] [Abstract][Full Text] [Related]
29. Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B; Demirbas D; Arantes RR; Banford S; Burlina AB; Cabrera A; Chiesa A; Couce ML; Dionisi-Vici C; Gautschi M; Grünewald S; Morava E; Möslinger D; Scholl-Bürgi S; Skouma A; Stepien KM; Timson DJ; Berry GT; Rubio-Gozalbo ME
Orphanet J Rare Dis; 2022 Sep; 17(1):331. PubMed ID: 36056436
[TBL] [Abstract][Full Text] [Related]
30. Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.
Kumar SU; Sankar S; Kumar DT; Younes S; Younes N; Siva R; Doss CGP; Zayed H
Cell Biochem Biophys; 2021 Jun; 79(2):201-219. PubMed ID: 33555556
[TBL] [Abstract][Full Text] [Related]
31. Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast.
Ross KL; Davis CN; Fridovich-Keil JL
Mol Genet Metab; 2004; 83(1-2):103-16. PubMed ID: 15464425
[TBL] [Abstract][Full Text] [Related]
32. Galactose and cataract.
Stambolian D
Surv Ophthalmol; 1988; 32(5):333-49. PubMed ID: 3043741
[TBL] [Abstract][Full Text] [Related]
33. A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype.
Tong F; Yang R; Hong F; Qian G; Jiang P; Gao R
J Pediatr Endocrinol Metab; 2016 Mar; 29(3):379-83. PubMed ID: 26565537
[TBL] [Abstract][Full Text] [Related]
34. Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
Haskovic M; Coelho AI; Bierau J; Vanoevelen JM; Steinbusch LKM; Zimmermann LJI; Villamor-Martinez E; Berry GT; Rubio-Gozalbo ME
J Inherit Metab Dis; 2020 May; 43(3):392-408. PubMed ID: 31808946
[TBL] [Abstract][Full Text] [Related]
35. Multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry.
Ko DH; Jun SH; Park HD; Song SH; Park KU; Kim JQ; Song YH; Song J
Clin Chem; 2010 May; 56(5):764-71. PubMed ID: 20299679
[TBL] [Abstract][Full Text] [Related]
36. Genetics of galactose metabolism of Erwinia amylovora and its influence on polysaccharide synthesis and virulence of the fire blight pathogen.
Metzger M; Bellemann P; Bugert P; Geider K
J Bacteriol; 1994 Jan; 176(2):450-9. PubMed ID: 7507102
[TBL] [Abstract][Full Text] [Related]
37. Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers.
Li Y; Huang X; Harmonay L; Liu Y; Kellogg MD; Fridovich-Keil JL; Berry GT
Clin Chem; 2014 May; 60(5):783-90. PubMed ID: 24578239
[TBL] [Abstract][Full Text] [Related]
38. Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Seo A; Gulsuner S; Pierce S; Ben-Harosh M; Shalev H; Walsh T; Krasnov T; Dgany O; Doulatov S; Tamary H; Shimamura A; King MC
Hum Mol Genet; 2019 Jan; 28(1):133-142. PubMed ID: 30247636
[TBL] [Abstract][Full Text] [Related]
39. Molecular characterization of a unique patient with epimerase-deficiency galactosaemia.
Alano A; Almashanu S; Chinsky JM; Costeas P; Blitzer MG; Wulfsberg EA; Cowan TM
J Inherit Metab Dis; 1998 Jun; 21(4):341-50. PubMed ID: 9700591
[TBL] [Abstract][Full Text] [Related]
40. [Galactosemia].
Owada M
Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):647-51. PubMed ID: 3270877
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
