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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. Diagnosis of inherited disorders of galactose metabolism. Cuthbert C; Klapper H; Elsas L Curr Protoc Hum Genet; 2008 Jan; Chapter 17():Unit 17.5. PubMed ID: 18428423 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
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13. Newborn screening for galactosemia: a new method used in Manitoba. Greenberg CR; Dilling LA; Thompson R; Ford JD; Seargeant LE; Haworth JC Pediatrics; 1989 Aug; 84(2):331-5. PubMed ID: 2748263 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. A new method of screening for inherited disorders of galactose metabolism. Paigen K; Pacholec F; Levy HL J Lab Clin Med; 1982 Jun; 99(6):895-907. PubMed ID: 7042875 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Rare cases of galactose metabolic disorders: identification of more than two mutations per patient. Schulpis KH; Thodi G; Chatzidaki M; Iakovou K; Molou E; Dotsikas Y; Loukas YL J Pediatr Endocrinol Metab; 2017 Oct; 30(10):1119-1120. PubMed ID: 28902631 [No Abstract] [Full Text] [Related]
18. Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening. Mizoguchi N; Ono H; Eguchi T; Sakura N Eur J Pediatr; 2000 Nov; 159(11):851-3. PubMed ID: 11079200 [TBL] [Abstract][Full Text] [Related]
19. Development of a protocol for newborn screening for disorders of the galactose metabolic pathway. Bowling FG; Brown AR J Inherit Metab Dis; 1986; 9(1):99-104. PubMed ID: 3014213 [TBL] [Abstract][Full Text] [Related]
20. A new mass screening method of detecting UDP-galactose-4-epimerase deficiency. Fujimura Y; Kawamura M; Naruse H Tohoku J Exp Med; 1980 May; 131(1):15-22. PubMed ID: 7404573 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]