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3. A patient with severe type of epimerase deficiency galactosaemia. Sardharwalla IB; Wraith JE; Bridge C; Fowler B; Roberts SA J Inherit Metab Dis; 1988; 11 Suppl 2():249-51. PubMed ID: 3141714 [No Abstract] [Full Text] [Related]
4. Further observations in a case of uridine diphosphate galactose-4-epimerase deficiency with a severe clinical presentation. Henderson MJ; Holton JB; MacFaul R J Inherit Metab Dis; 1983; 6(1):17-20. PubMed ID: 6408303 [TBL] [Abstract][Full Text] [Related]
6. Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families. Gitzelmann R; Steinmann B; Mitchell B; Haigis E Helv Paediatr Acta; 1977 Apr; 31(6):441-52. PubMed ID: 404274 [TBL] [Abstract][Full Text] [Related]
7. Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency. Holton JB; Gillett MG; MacFaul R; Young R Arch Dis Child; 1981 Nov; 56(11):885-7. PubMed ID: 7305435 [TBL] [Abstract][Full Text] [Related]
9. A case of uridine diphosphate galactose-4-epimerase deficiency detected by neonatal screening for galactosaemia. Bowling FG; Fraser DK; Clague AE; Hayes A; Morris DJ Med J Aust; 1986 Feb; 144(3):150-1. PubMed ID: 3945203 [TBL] [Abstract][Full Text] [Related]
10. Results of newborn screening for galactose metabolic disorders. Inoue B; Hata M; Ichiba Y; Wada H; Misumi H; Mori T J Inherit Metab Dis; 1990; 13(1):93-101. PubMed ID: 2109152 [TBL] [Abstract][Full Text] [Related]
11. A simple assay for uridine diphosphate galactose 4-epimerase activity. Vaca G; Sanchez-Corona J; Olivares N; Medina C; Ibarra B; Cantu JM Ann Genet; 1980; 23(2):126-8. PubMed ID: 6967287 [TBL] [Abstract][Full Text] [Related]
12. Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture. Mitchell B; Haigis E; Steinmann B; Gitzelmann R Proc Natl Acad Sci U S A; 1975 Dec; 72(12):5026-30. PubMed ID: 1748 [TBL] [Abstract][Full Text] [Related]
16. [Hereditary abnormalities of galactose metabolism: diagnosis and biochemical supervision (author's transl)]. Brivet M; Moatti N; Lemonnier A Ann Biol Clin (Paris); 1979; 37(5):259-70. PubMed ID: 232826 [TBL] [Abstract][Full Text] [Related]
17. Appearance of active UDP-galactose 4'-epimerase in cells cultured from epimerase-deficient persons. Gitzelmann R; Haigis E J Inherit Metab Dis; 1978; 1(1):41. PubMed ID: 117236 [No Abstract] [Full Text] [Related]
18. On the screening for inborn errors of galactose metabolism. Vaca G; SĂ nchez-Corona J; Olivares N; Medina C; Ibarra B; CantĂș JM Ann Genet; 1983; 26(3):191-2. PubMed ID: 6606384 [TBL] [Abstract][Full Text] [Related]
19. Structure and function of enzymes of the Leloir pathway for galactose metabolism. Holden HM; Rayment I; Thoden JB J Biol Chem; 2003 Nov; 278(45):43885-8. PubMed ID: 12923184 [No Abstract] [Full Text] [Related]