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Article

Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience.

Journal of medical screening - 1 Jan 2001

Zekanowski C, Nowacka M, Radomyska B, Cabalska B

Abstract excerpt

OBJECTIVE: To elucidate whether screening for mutations causing hyperphenylalaninaemia (HPA) and classic galactosaemia could provide important, additional information on a clinical phenotype. METHOD: Genotypes that cause disease at the phenylalanine hydroxylase (PAH) gene and galactose-1-phosphate uridyltransferase (GALT) gene in a group of 101 hyperphenylalaninaemic and 77 patients with classic galactosaemia...

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Share to Galactosemias
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

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Share to UTP-Hexose-1-Phosphate Uridylyltransferase

Source

Identifiers

PMID: 11678552
DOI: 10.1136/jms.8.3.132

Genes

PAH
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.

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