Galactosaemia in three Rhodesian infants.

Abstract

The clinically relevant types of genetic galactosaemia involve deficiency of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) or galactokinase (EC 2.7.1.6). Specific diagnosis is made by quantitative assay of these two enzymes. Seven Black patients were referred from Harare Hospital, Rhodesia, with features suggestive of galactosaemia. Enzyme assay… (More)

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Cite this paper

@article{Macfarlane1979GalactosaemiaIT, title={Galactosaemia in three Rhodesian infants.}, author={Chelsea Macfarlane and Gordon M. Berger and Jacob H. Axton}, journal={South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde}, year={1979}, volume={55 8}, pages={303-6} }