ADENYLOSUCCINASE DEFICIENCY: 217

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Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.

Adenylosuccinase (ADSL) deficiency is an autosomal recessive disorder affecting mainly the nervous system. The disease causes psychomotor retardation, frequently with autistic features and epilepsy. ADSL deficiency may be diagnosed by detection of two abnormal metabolites in body fluids--succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide riboside (SAICAr). It is assumed that the f...

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ژورنال

عنوان ژورنال: Pediatric Research

سال: 1985

ISSN: 0031-3998,1530-0447

DOI: 10.1203/00006450-198507000-00237