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Article

Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Jul 2017

Schulpis Kleopatra H, Thodi Georgia, Iakovou Konstantinos, Chatzidaki Maria, Dotsikas Yannis, Molou Elina, Triantafylli Olga, Loukas Yannis L

Abstract excerpt

BACKGROUND: Deficiencies of galactokinase (GALK) and UDP-epimerase (GALE) are implicated with galactose metabolic disorders. The aim of the study was the identification of mutations in GALK and GALE genes and clinical evaluation of patients. METHODS: Five patients with GALK and five with GALE deficiency were picked up via the Neonatal Screening Program. Additionally, two females, 4 years old, were referred with...

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Identifiers

PMID: 28672748
DOI: 10.1515/jpem-2017-0065

Genes

GALE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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