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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, implying that this method can be performed even when only basic laboratory facilities are available. Using this method,...

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Source

Identifiers

PMID: 8223305

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 8 closest

Clinical and laboratory approach for the diagnosis of galactosaemia in Africa.PMID 8223305Read ↗

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.Semantic proximity Read ↗

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.Semantic proximity Read ↗

Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.Semantic proximity Read ↗

The molecular basis of transferase galactosaemia in South African negroids.Semantic proximity Read ↗

Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.Semantic proximity Read ↗

Black children deficient in galactose 1-phosphate uridyltransferase: correlation of activity and immunoreactive protein in erythrocytes and leukocytes.Semantic proximity Read ↗

Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).Semantic proximity Read ↗

Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients.Semantic proximity Read ↗

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