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Article

Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).

Journal of inherited metabolic disease - 1 Jan 2003

Ng W G, Xu Y K, Wong L J, Kaufman F R, Buist N R M, Donnell G N

Abstract excerpt

We report two unrelated cases of adult galactosaemia females with normal ovarian function and Q188R/R333G mutations. Clinical history has been followed for 40 years. Biochemical finding in one patient are consistent with the presence of small amounts of galactose-1-phosphate uridyltransferase (GALT) activity, which differs from classical galactosaemia.

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Source

Identifiers

PMID: 12872845
DOI: 10.1023/a:1024039916476

Genes

GALT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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