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Article

Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach.

Clinical chemistry - 1 Mar 2010

Freer Dennis E, Ficicioglu Can, Finegold David

Abstract excerpt

BACKGROUND: Availability of the galactose-1-phosphate uridyltransferase (GALT) assay for newborn (NB) screening has improved identification of classic galactosemia. Previously defined critical cutoffs for total galactose (Gal), typically 1.110 mmol/L (20 mg/dL), are still in use in laboratories measuring total Gal for the diagnosis of nonclassic galactosemias. Urgent notification/referral to a treatment center...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20075179
DOI: 10.1373/clinchem.2009.135947

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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