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Article

Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.

Wiener klinische Wochenschrift - 1 Feb 2010

Milánkovics Ilona, Schuler Agnes, Kámory Eniko, Csókay Béla, Fodor Flóra, Somogyi Csilla, Németh Krisztina, Fekete György

Abstract excerpt

BACKGROUND: Classic galactosemia is an autosomal recessively inherited disorder caused by deficient activity of the enzyme galactose-1-phosphate uridyltransferase. The disorder can be detected by newborn screening and in Hungary the national screening program was launched in 1976 with two screening centers. The aim of this study was the molecular characterization of the genotypes and analysis of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20213376
DOI: 10.1007/s00508-010-1311-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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