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Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults
BACKGROUND: Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms of BTHS are not currently available, making it difficult to evaluate treatment...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8190857/ https://www.ncbi.nlm.nih.gov/pubmed/34108006 http://dx.doi.org/10.1186/s13023-021-01897-z |