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Article

Adenylosuccinate lyase deficiency.

Molecular genetics and metabolism - 1 Jan 2000

Spiegel Erin K, Colman Roberta F, Patterson David

Abstract excerpt

Adenylosuccinate lyase deficiency is a disease of purine metabolism which affects patients both biochemically and behaviorally. The symptoms are variable and include psychomotor retardation, autistic features, hypotonia, and seizures. Patients also accumulate the substrates of ADSL in body fluids. Both the presence of normal levels of ADSL enzyme activities in some patient tissues and the absence of a clear...

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Source

Identifiers

PMID: 16839792
DOI: 10.1016/j.ymgme.2006.04.018

Genes

ADSL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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