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American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2013 First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA ...
John L Jefferies
exaly +12 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
doaj +4 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
doaj +4 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 +4 more sources
Efficacy and Mechanism EvaluationBackground Barth syndrome is a rare, life-threatening X-linked recessive mitochondrial disorder of lipid metabolism primarily affecting males. Previous research suggests that bezafibrate may ameliorate cellular lipid abnormalities and reduce cardiac ...
Guido Pieles +22 more
doaj +3 more sources
Dietary linoleic acid supplementation fails to rescue established cardiomyopathy in Barth syndrome [PDF]
Journal of Molecular and Cellular Cardiology PlusBarth syndrome (BTHS) is a mitochondrial lipid disorder caused by mutations in TAFAZZIN (TAZ), required for cardiolipin (CL) remodeling. Cardiomyopathy is a major clinical feature, with no curative therapy.
Siting Zhu +7 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
A rare clinical association: Barth syndrome and cystic fibrosis [PDF]
The Turkish Journal of Pediatrics, 2019 Barth syndrome (BS) is a rare X-linked recessive metabolic disorder characterized by cardiomyopathy, hypotonia, neutropenia, growth retardation and 3-methylglutaconic aciduria type II.
Elif Sağ +3 more
doaj +2 more sources
Novel Mutations in the TAZ Gene in Patients with Barth Syndrome [PDF]
Prague Medical Report, 2013 Barth syndrome is an X-linked recessive disorder that is caused by mutations in Taffazin gene (TAZ), leading to severe cardiolipin deficiency which results in respiratory chain dysfunction. Barth syndrome is characterized by cardiomyopathy, neutropenia,
S. Mazurová +9 more
doaj +2 more sources
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