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Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study
BACKGROUND: Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles, and shorter stature in youth. A greater numb...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836365/ https://www.ncbi.nlm.nih.gov/pubmed/31699126 http://dx.doi.org/10.1186/s13023-019-1200-8 |