Biochemical and molecular studies of 132 patients with galactosemia.

doi:10.1007/BF00201593

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Article

Biochemical and molecular studies of 132 patients with galactosemia.

Human genetics - 1 Oct 1994

Ng W G, Xu Y K, Kaufman F R, Donnell G N, Wolff J, Allen R J, Koritala S, Reichardt J K

Abstract excerpt

We evaluated 132 galactosemia patients for the Q188R (glutamine-188 to arginine) mutation in the human galactose-1-phosphate uridyltransferase (GALT) gene and for GALT activity in their hemolysates by a sensitive radioisotopic method. In those without any detectable GALT activity (GG), the Q188R...

Topics

Adolescent
Base Sequence
Child
Child, Preschool
Female
Galactosemias
Humans
Infant
Infant, Newborn
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
UTP-Hexose-1-Phosphate Uridylyltransferase
Uridine Diphosphate Galactose
Uridine Diphosphate Glucose

Source

Open in PubMed

Identifiers

PMID: 7927329
DOI: 10.1007/BF00201593

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7927329-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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