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Article

A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2016

Tong Fan, Yang Rulai, Hong Fang, Qian Guling, Jiang Pingping, Gao Rui

Abstract excerpt

BACKGROUND: The aim of the study was to investigate the incidence and genotype-phenotype characteristics of UDP-galactose-4'-epimerase (GALE) deficiency in newborn screening of Chinese population. METHODS: Neonates were screened at the Newborn Screening Center of Zhejiang Province, China for GALE deficiency and their condition was confirmed by testing of the GALE gene and GALE enzyme. Clinical and laboratory...

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Source

Identifiers

PMID: 26565537
DOI: 10.1515/jpem-2014-0462

Genes

GALE

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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