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Article

Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.

Molecular genetics and metabolism - 1 Jan 2005

Wasilenko Jamie, Lucas Mary E, Thoden James B, Holden Hazel M, Fridovich-Keil Judith L

Abstract excerpt

Epimerase deficiency galactosemia is an autosomal recessive condition resulting from the impairment of UDP-galactose 4'-epimerase (hGALE). Although a small number of clinically severe patients have been reported who exhibit "generalized" GALE deficiency, the vast majority exhibit an apparently benign "peripheral" form of the disorder in which enzyme impairment is restricted to the circulating red and white blood...

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Source

Identifiers

PMID: 15639193
DOI: 10.1016/j.ymgme.2004.09.003

Genes

GALE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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