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Article

Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.

European journal of pediatrics - 1 May 1996

Shin Y S, Gathof B S, Podskarbi T, Sommer M, Giugliani R, Gresser U

Abstract excerpt

UNLABELLED: Classical galactosaemia caused by deficiency of galactose-1-phosphate uridyltransferase (GALT) is characterized by acute symptoms of hepatocellular dysfunction, sepsis, cataracts and failure to thrive. Galactose limitation reverses these complications immediately, however, most of these children have a long-term complication of verbal dyspraxia mental retardation and ovarian failure. The GALT gene was...

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Source

Identifiers

PMID: 8741038
DOI: 10.1007/BF01955270

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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Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.PMID 8741038Read ↗

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