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Article

Structural and molecular biology of type I galactosemia: disease-associated mutations.

IUBMB life - 1 Nov 2011

McCorvie Thomas J, Timson David J

Abstract excerpt

Type I galactosemia results from reduced galactose 1-phosphate uridylyltransferase (GALT) activity. Signs of disease include damage to the eyes, brain, liver, and ovaries. However, the exact nature and severity of the pathology depends on the mutation(s) in the patient's genes and his/her environment. Considerable enzymological and structural knowledge has been accumulated and this provides a basis to explain, at...

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Source

Identifiers

PMID: 21960482
DOI: 10.1002/iub.510

Genes

GALT

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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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