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Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling
Barth syndrome (BTHS) is a rare X-linked genetic disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, and organic aciduria. The presence and severity of clinical manifestations are highly variable in BTHS, even among patients with identical gene mutations. Currently, less than 2...
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| Publicado en: | J Rare Dis Res Treat |
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| Autores principales: | , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2017
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6482962/ https://ncbi.nlm.nih.gov/pubmed/31032491 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.29245/2572-9411/2017/2.1087 |
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