Initial Psychometric Evaluation of the Barth Syndrome Symptom Assessment (BTHS-SA) for Adolescents and Adults in a Phase 2 Clinical Study
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DOI: 10.1186/s13023-025-03693-5
Abstract: Barth syndrome (BTHS) is a rare, X-linked disorder that stems from mutations in the TAFAZZIN (TAZ) gene with varying disease severity among patients. The Barth Syndrome Symptom Assessment (BTHS-SA) is a patient-reported outcome questionnaire developed… read more here.
Keywords: assessment bths; symptom assessment; barth syndrome; syndrome symptom ... See more keywords