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Article

Barth syndrome is associated with a cognitive phenotype.

Journal of developmental and behavioral pediatrics : JDBP - 1 Feb 2007

Mazzocco Michèle M M, Henry Anne E, Kelly Richard I

Abstract excerpt

OBJECTIVE: Barth syndrome is a rare, X-linked recessive disorder that affects only boys. The cardinal characteristics include growth retardation, cardioskeletal myopathy, chronic or cyclic neutropenia, and 3-methylglutaconic aciduria. A preliminary study of five young boys with Barth syndrome suggested a distinct cognitive phenotype. METHODS: The present study was designed to explore whether additional evidence...

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Identifiers

PMID: 17353728
DOI: 10.1097/01.DBP.0000257519.79803.90
PMCID: PMC2813702

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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