Autor:	M Rahbek, Schmidt, N, Birkebaek, I, Gonzalez, L, Sunde
Rok vydání:	2004
Předmět:	Male Chromosomes Human X Glycine Infant Newborn Mutation Missense Syndrome Arginine Pedigree Glutarates Fatal Outcome Muscular Diseases Mutation Humans Cardiomyopathies
Zdroj:	Acta paediatrica (Oslo, Norway : 1992). 93(3)
ISSN:	0803-5253
Popis:	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.A case of confirmed BTHS, but without 3-mgc aciduria, emphasizes the importance of extensive investigations in cases with suspected hereditary cardiomyopathy.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::4f1558ebd6f57308662e3357132f2220 https://pubmed.ncbi.nlm.nih.gov/15124852 Zobrazit plný text záznamu Plný text