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Article

Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots.

Clinica chimica acta; international journal of clinical chemistry - 25 Sept 2014

Sartippour Maryam R, Doroudian Roya, Frampton Gordon, Lorey Fred, Helmer George, Ho Thomson, Bhandal Ajit

Abstract excerpt

BACKGROUND: The California newborn screening program uses newborns' dried blood spots (DBS) to screen for more than 45 genetic disorders. Deficiency of galactose-1-phosphate uridyl transferase (GALT) is one of the metabolic genetic disorders screened using newborn DBS. During follow-up tests, common mutations of the GALT gene have been identified using whole blood samples. To avoid the stress of drawing an...

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Source

Identifiers

PMID: 24973740
DOI: 10.1016/j.cca.2014.06.011

Genes

GALT

Variants

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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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