Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency.

Abstract

A complete deficiency of inosine triphosphate pyrophosphohydrolase (ITPase) has been identified, together with high concentrations (mean 157 mumol/l) of the unusual nucleotide ITP, in the erythrocytes of 3 members of a consanguineous United Kingdom kindred. The defect has been noted previously in North America and Sweden, but even in presumed homozygotes… (More)

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@article{Duley1990InosineTP, title={Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency.}, author={John A. Duley and H. Anne Simmonds and David A. Hopkinson and R. J. Levinsky}, journal={Clinica chimica acta; international journal of clinical chemistry}, year={1990}, volume={188 3}, pages={243-52} }