Clinical and laboratory approach for the diagnosis of galactosaemia in Africa.

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Article

Clinical and laboratory approach for the diagnosis of galactosaemia in Africa.

East African medical journal - 1 Apr 1993

van den Berg I C, Ubbink J B, Bissbort S, Vermaak W J

Abstract excerpt

A new method free from haemoglobin interference is described to measure erythrocyte galactose-l-phosphate uridyltransferase(GALT) activity levels. Since haemoglobin is removed by acid denaturation and precipitation with chloroform, only a simple photometer is required to assay GALT activity, impl...

Topics

Africa
Black People
Clinical Enzyme Tests
Electrophoresis, Starch Gel
Erythrocytes
Female
Galactosemias
Genetic Carrier Screening
Humans
Infant
Infant, Newborn
Laboratories
Male
Phenotype
Photometry
Sensitivity and Specificity
UTP-Hexose-1-Phosphate Uridylyltransferase

Source

Open in PubMed

Identifiers

PMID: 8223305

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8223305-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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