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

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

Abstract 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 grea...

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Bibliographic Details
Main Authors: Iyar Mazar, Jonathan Stokes, Sarah Ollis, Emily Love, Ashlee Espensen, Peter G. Barth, John H. Powers, Alan L. Shields
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Barth syndrome
Qualitative research
Health outcomes
Quality of life
Natural history
X-linked disease
Online Access:http://link.springer.com/article/10.1186/s13023-019-1200-8

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http://link.springer.com/article/10.1186/s13023-019-1200-8

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