Results 11 to 20 of about 6,556 (165)
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
doaj +4 more sources
Barth Syndrome Cardiomyopathy: An Update [PDF]
Genes, 2022 Barth syndrome (BTHS) is an X-linked mitochondrial lipid disorder caused by mutations in the TAFAZZIN (TAZ) gene, which encodes a mitochondrial acyltransferase/transacylase required for cardiolipin (CL) biosynthesis. Cardiomyopathy is a major clinical feature of BTHS.
Xi Fang, Yutong Bao, Jennifer Veevers
exaly +4 more sources
Experimental models of Barth syndrome [PDF]
Journal of Inherited Metabolic Disease, 2022 AbstractMutation of the gene Tafazzin (TAZ) causes Barth syndrome, an X‐linked disorder characterized by cardiomyopathy, skeletal muscle weakness, and neutropenia. TAZ is an acyltransferase that catalyzes the remodeling of cardiolipin, the signature phospholipid of the inner mitochondrial membrane. Here, we review the major model systems that have been
William T Pu
exaly +4 more sources
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
Orphanet Journal of Rare Diseases, 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 ...
Clarke Sarah LN +16 more
doaj +7 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 +2 more sources
Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals. [PDF]
J Inherit Metab DisABSTRACT Barth syndrome (BTHS; OMIM 302060) is an ultra‐rare, life‐limiting genetic disorder characterized by cardiomyopathy, skeletal muscle myopathy, neutropenia, gastrointestinal issues, and fatigue. Formal analyses of survival and clinical progression remain limited.
Fu K +7 more
europepmc +2 more sources
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
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 +2 more sources
Barth syndrome: mechanisms and management
The Application of Clinical Genetics, 2019 Josef FinstererKrankenanstalt Rudolfstiftung, Messerli Institute, Vienna, AustriaObjectives: Barth syndrome is an ultra-rare, infantile-onset, X-linked recessive mitochondrial disorder, primarily affecting males, due to variants in TAZ encoding for the ...
Finsterer J
doaj +4 more sources