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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...
Guardat en:
| Publicat a: | J Rare Dis Res Treat |
|---|---|
| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2017
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| Matèries: | |
| Accés en línia: | 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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