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Article

Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation.

Neurologic clinics - 1 Feb 2000

Sabina R L

Abstract excerpt

Myoadenylate deaminase deficiency is a clinically heterogeneous metabolic disorder that is commonly diagnosed in a variety of neurologic settings. Although the molecular basis for this purine nucleotide catabolic derangement may typically be attributed to the inheritance of a single prevalent mut...

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Identifiers

PMID: 10658174
DOI: 10.1016/s0733-8619(05)70184-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10658174-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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