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.
5. 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]
6. 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]
13. 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]
14. Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia. Maceratesi P; Daude N; Dallapiccola B; Novelli G; Allen R; Okano Y; Reichardt J Mol Genet Metab; 1998 Jan; 63(1):26-30. PubMed ID: 9538513 [TBL] [Abstract][Full Text] [Related]