Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study

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 p...

Source: Orphanet Journal of Rare Diseases - November 7, 2019 Category: Internal Medicine Authors: Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers III and Alan L. Shields Tags: Research Source Type: research