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A new case of dihydropyrimidine dehydrogenase deficiency
Author(s) -
Brockstedt M.,
Jakobs C.,
Smit L. M. E.,
Gennip A. H.,
Berger R.
Publication year - 1990
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799339
Subject(s) - human genetics , medicine , dihydropyrimidine dehydrogenase , genetics , biology , chemotherapy , gene , fluorouracil , thymidylate synthase
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.