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...

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Detalles Bibliográficos
Autores principales: Mazar, Iyar, Stokes, Jonathan, Ollis, Sarah, Love, Emily, Espensen, Ashlee, Barth, Peter G., Powers, John H., Shields, Alan L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
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

Internet

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

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