A new case of dihydropyrimidine dehydrogenase deficiency
- 27 April 1989
- journal article
- research article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 13 (1) , 121-124
- https://doi.org/10.1007/bf01799339
Abstract
Summary: We present the clinical and biochemical features of a boy with dihydropyrimidine dehydrogenase deficiency, which seem to underline a disease entity of developmental retardation, epilepsy and muscular hypertonia.This publication has 13 references indexed in Scilit:
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