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Article

Neurocognitive phenotype of isolated methylmalonic acidemia.

Pediatrics - 1 Jun 2012

O'Shea Colin J, Sloan Jennifer L, Wiggs Edythe A, Pao Maryland, Gropman Andrea, Baker Eva H, Manoli Irini, Venditti Charles P, Snow Joseph

Abstract excerpt

OBJECTIVE: Methylmalonic acidemia (MMA) is a metabolic disorder with a poorly defined long-term neurocognitive phenotype. We studied the neuropsychological outcomes of patients and examined clinical covariates that influenced cognition. METHODS: A diverse cohort with mut, cblA, or cblB subtypes of isolated MMA (N = 43), ages 2 to 32 years, were evaluated at a single center over a 6-year period. The influence of...

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Identifiers

PMID: 22614770
DOI: 10.1542/peds.2011-1715
PMCID: PMC3362903

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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