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Barth syndrome
Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). There may be a wide variability of phenotypes amongst BTHS patients w...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Wiley Online Library
2013
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892174/ https://www.ncbi.nlm.nih.gov/pubmed/23843353 http://dx.doi.org/10.1002/ajmg.c.31372 |