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Article

The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Park Hyung-Doo, Park Kyung Un, Kim Jin Q, Shin Choong Ho, Yang Sei Won, Lee Dong Hwan, Song Young-Han, Song Junghan

Abstract excerpt

PURPOSE: UDP-galactose-4-epimerase (GALE) deficiency galactosemia is an autosomal recessive disorder and the prevalence of the disease varies among ethnic groups. We aimed to investigate molecular characteristics of the Korean patients with attenuated GALE activity and elevated galactose-1-phosphate levels in blood. METHODS: In order to characterize the molecular defects underlying GALE deficiency, the GALE gene...

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Source

Identifiers

PMID: 16301867
DOI: 10.1097/01.gim.0000194023.27802.2d

Genes

GALE

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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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The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.PMID 16301867Read ↗

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