Quality of life in Barth syndrome [PDF]
Therapeutic Advances in Rare Disease, 2022 Introduction: Barth syndrome (BTHS) is a rare X-linked disorder characterized by cardiomyopathy, neutropenia, growth abnormalities, and skeletal myopathy. There have been few studies investigating health-related quality of life (HRQoL) in this population.
Alexander Y. Kim +4 more
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Metabolic switch from fatty acid oxidation to glycolysis in knock‐in mouse model of Barth syndrome [PDF]
EMBO Molecular Medicine, 2023 Mitochondria are central for cellular metabolism and energy supply. Barth syndrome (BTHS) is a severe disorder, due to dysfunction of the mitochondrial cardiolipin acyl transferase tafazzin.
Arpita Chowdhury +20 more
doaj +3 more sources
Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis. [PDF]
PLoS ONE, 2015 Barth syndrome is an X-linked mitochondrial disease, symptoms of which include neutropenia and cardiac myopathy. These symptoms are the most significant clinical consequences of a disease, which is increasingly recognised to have a variable presentation.
Laurence C Cadalbert +6 more
doaj +14 more sources
Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome [PDF]
Frontiers in Pediatrics, 2023 BackgroundBarth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria.
Nicola Tovaglieri +4 more
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AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome [PDF]
Molecular Therapy: Methods & Clinical Development, 2019 Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano +6 more
doaj +3 more sources
Barth Syndrome: Psychosocial Impact and Quality of Life Assessment [PDF]
Journal of Cardiovascular Development and Disease, 2022 Background: Barth syndrome (BTHS) is a rare X-linked genetic disease that affects multiple systems and leads to complex clinical manifestations. Although a considerable amount of research has focused on the physical aspects of the disease, less has ...
Anandbir Bath +12 more
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Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome [PDF]
Frontiers in Cardiovascular MedicineBackgroundBarth syndrome is an X-linked disorder characterised by cardiomyopathy, growth abnormalities, neutropenia, and 3-methylglutaconic aciduria. It is caused by pathogenic variants in TAFAZZIN, which encodes a mitochondrial protein essential for ...
Emma S. Singer +18 more
doaj +2 more sources
Myocardial disturbances of intermediary metabolism in Barth syndrome [PDF]
Frontiers in Cardiovascular Medicine, 2022 Barth Syndrome (BTHS) is a rare X-linked mitochondrial disorder due to mutations in the gene TAFAZZIN, which leads to immature cardiolipin (CL) remodeling and is characterized by the development of cardiomyopathy.
Amanda A. Greenwell +5 more
doaj +2 more sources
Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Barth syndrome (BTHS) is a rare genetic disease that is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities and often leads to death in childhood.
Jef Van den Eynde +6 more
doaj +2 more sources
Initial Psychometric Evaluation of the Barth Syndrome Symptom Assessment (BTHS-SA) for Adolescents and Adults in a Phase 2 Clinical Study [PDF]
Orphanet Journal of Rare DiseasesBackground Barth syndrome (BTHS) is a rare, X-linked disorder that stems from mutations in the TAFAZZIN (TAZ) gene with varying disease severity among patients.
Chad Gwaltney +9 more
doaj +2 more sources