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3. 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]
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. 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]
12. Structure and function of low-density-lipoprotein receptors in epimerase-deficient galactosemia. Kingsley DM; Krieger M; Holton JB N Engl J Med; 1986 May; 314(19):1257-8. PubMed ID: 3702926 [No Abstract] [Full Text] [Related]
13. 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]
14. 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]