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Article

The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa.

BMC pediatrics - 2 Sept 2002

Henderson Howard, Leisegang Felicity, Brown Ruth, Eley Brian

Abstract excerpt

BACKGROUND: The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region. METHODS: Diagnoses were based on thin layer chromatography for galactosuria/galactosemia and assays of erythrocyte galactose-1-phosphate uridyltransferase (GALT) and galactokinase activities. Patients were screened for the common S135L and Q188R...

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Source

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Identifiers

PMID: 12350230
DOI: 10.1186/1471-2431-2-7
PMCID: PMC126267

Genes

GALT

Variants

Provenance

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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