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Article

Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

Journal of inherited metabolic disease - 1 Oct 2007

Calderon F R O, Nelson L, Dobrowolski P, Sinitsyna I, Phansalkar A, Longo N, Pasquali M, Mao R

Abstract excerpt

Newborn screening can identify patients with classical galactosaemia, and their diagnosis needs to be confirmed with assay of the activity of galactose-1-phosphate uridyltransferase (GALT). Unfortunately, in many cases the results can be ambiguous and further testing is required. Here we report a combination of biochemical analysis of GALT enzyme activity and mutation analysis of the most common mutations in the...

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Share to UTP-Hexose-1-Phosphate Uridylyltransferase

Source

Identifiers

PMID: 17876724
DOI: 10.1007/s10545-007-0461-x

Genes

GALT

Variants

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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