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Article

Impaired fertility and motor function in a zebrafish model for classic galactosemia.

Journal of inherited metabolic disease - 1 Jan 2018

Vanoevelen Jo M, van Erven Britt, Bierau Jörgen, Huang Xiaoping, Berry Gerard T, Vos Rein, Coelho Ana I, Rubio-Gozalbo M Estela

Abstract excerpt

Classic galactosemia is a genetic disorder of galactose metabolism, caused by severe deficiency of galactose-1-phosphate uridylyltransferase (GALT) enzyme activity due to mutations of the GALT gene. Its pathogenesis is still not fully elucidated, and a therapy that prevents chronic impairments is lacking. In order to move research forward, there is a high need for a novel animal model, which allows organ studies...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28913702
DOI: 10.1007/s10545-017-0071-1
PMCID: PMC5786655

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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