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Article

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.

Human molecular genetics - 1 Sept 2000

Race V, Marie S, Vincent M F, Van den Berghe G

Abstract excerpt

Adenylosuccinate lyase (ADSL) deficiency (MIM 103050) is an autosomal recessive inborn error of purine synthesis characterized by the accumulation in body fluids of succinylaminoimidazolecarboxamide (SAICA) riboside and succinyladenosine (S-Ado), the dephosphorylated derivatives of the two substrates of the enzyme. Because ADSL-deficient patients display widely variable degrees of psychomotor retardation, we have...

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Source

Identifiers

PMID: 10958654
DOI: 10.1093/hmg/9.14.2159

Genes

ADSL

Variants

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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