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

    A new case of dihydropyrimidine dehydrogenase deficiency.

    Brockstedt M, Jakobs C, Smit LM, van Gennip AH, Berger R.

    Source

    Dept. 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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