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Article

An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families.

Medicina clinica - 16 May 2009

Gort Laura, Quintana Ester, Moliner Sonia, González-Quereda Lidia, López-Hernández Tania, Briones Paz

Abstract excerpt

BACKGROUND AND OBJECTIVES: Classical galactosaemia is an inherited metabolic disorder due to mutations in the galactose-1-phosphate uridyltransferase gene (GALT). We previously reported molecular analysis of 83 Spanish and Portuguese unrelated galactosaemic patients. Here we present the results of another seventeen unreported affected individuals. MATERIAL AND METHODS: DNA from patients was PCR-amplified and...

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Identifiers

PMID: 19375122
DOI: 10.1016/j.medcli.2008.11.031

Genes

GALT

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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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