Article
Barth syndrome without 3-methylglutaconic aciduria.
Acta paediatrica (Oslo, Norway : 1992) - 1 Mar 2004
Schmidt M Rahbek, Birkebaek N, Gonzalez I, Sunde L
Abstract excerpt
UNLABELLED: Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3-methylglutaconic (3-mgc) aciduria. 3-mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion. CONCLUSION: A case of confirmed BTHS, but without 3-mgc aciduria, emphasizes the importance of extensive investigations in cases with suspected hereditary cardiomyopathy.
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