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J Inherit Metab Dis. 1990;13(1):121-4.

A new case of dihydropyrimidine dehydrogenase deficiency.

Author information

  • 1Dept. of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.

Abstract

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.

PMID:
2109146
[PubMed - indexed for MEDLINE]
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