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Article

Preliminary evidence for a cognitive phenotype in Barth syndrome.

American journal of medical genetics - 1 Sept 2001

Mazzocco M M, Kelley R I

Abstract excerpt

Barth syndrome (BTHS) is a rare, X-linked, recessive disorder that affects almost exclusively males. It is characterized by short stature, cardioskeletal myopathy, cyclic neutropenia, increased excretion of 3-methylglutaconic acid in the urine, and moderate hypocholesterolemia. The objective of the present study was to assess whether BTHS presents with a cognitive phenotype. Preliminary data were collected from...

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Identifiers

PMID: 11503166
DOI: 10.1002/ajmg.1487

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

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