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Adenylosuccinase Deficiency

Adenylosuccinate lyase deficiency
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Adenylosuccinase Deficiency" returned 0 free, full-text review articles. First 0 results:
Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.
Last Updated: Aug 31, 2019

Adenylosuccinase catalyses two reactions in purine metabolism: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) into aminoimidazole carboxamide ribotide (AICAR) along the de novo synthesis of purine nucleotides, and the conversion of adenylosuccinate (S-AMP) ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Adenylosuccinase Deficiency" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Adenylosuccinase Deficiency" returned 2 free, full-text research articles. First 2 results:
Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.
Last Updated: Oct 21, 2016

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 ...

Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.
Last Updated: Sep 10, 2019

Adenylosuccinase deficiency, an autosomal recessive inborn error of purine synthesis, was first described in 1984 by Jaeken and Van den Berghe (reviewed in J Inher Metab Dis 20;1997:193). The cardinal features are variable psychomotor delay often accompanied by epilepsy and autistic ...

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