Article
Phospholipid abnormalities in children with Barth syndrome.
Journal of the American College of Cardiology - 3 Dec 2003
Schlame Michael, Kelley Richard I, Feigenbaum Annette, Towbin Jeffrey A, Heerdt Paul M, Schieble Thomas, Wanders Ronald J A, DiMauro Salvatore, Blanck Thomas J J
Abstract excerpt
OBJECTIVES: We sought to identify characteristic lipid abnormalities in patients with Barth syndrome (BTHS) and to correlate the lipid profile to phenotype and genotype. BACKGROUND: Barth syndrome typically includes cardiomyopathy, skeletal myopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria, and it is commonly associated with mutations in the tafazzin (TAZ) gene, whose products are...
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