Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation

Abstract

Classical galactosaemia (McKusick 230400) is caused by de¢cient galactose-1-phosphate uridyltransferase (GALT, EC 2.7.7.10) activity. The symptoms usually appear neonatally with the introduction of milk feeding and can be life threatening. A galactose-free diet reverses the acute toxic syndrome, but long-term outcome may be associated with growth… (More)
DOI: 10.1023/A:1005667024606

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Cite this paper

@article{Briones2001SecondSP, title={Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation}, author={Paz Briones and Maria Luisa Giros and Valeria Martinez}, journal={Journal of Inherited Metabolic Disease}, year={2001}, volume={24}, pages={79-80} }