Results 11 to 20 of about 41,331 (231)
Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy [PDF]
Lipids, 2017 AbstractThe Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests characteristic phenotypic features including altered mitochondrial membrane phospholipids, lactic acidosis, organic acid‐uria, skeletal muscle weakness and cardiomyopathy.
Nikita Ikon, Robert O Ryan
exaly +4 more sources
Barth Syndrome Cardiomyopathy: An Update. [PDF]
Genes (Basel), 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.
Pang J +4 more
europepmc +5 more sources
BARTH SYNDROME IN PRACTICE OF CARDIOLOGY
Российский кардиологический журнал, 2018 Barth syndrome is an X-bound inherited recessive disorder with the prevalenсe 1:300000 — 1:400000 of live bornt, caused by mutations in the gene TAZ; manifesting with dilation cardiomyopathy, neutropenia, proxymal myopathy, delayed physical and motoric ...
O. V. Melnik +7 more
doaj +3 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
Orphanet Journal of Rare Diseases, 2021 Background Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms of BTHS are not currently ...
Chad Gwaltney +6 more
doaj +2 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 +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 +3 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
Expanded-access use of elamipretide in a critically ill patient with Barth syndrome [PDF]
Genetics in Medicine OpenPurpose: Barth syndrome (BTHS; OMIM #302060) is a rare disease characterized by cardiolipin abnormalities and cardiomyopathy, intermittent neutropenia and skeletal myopathy among other defects.
Amy C. Goldstein +5 more
doaj +2 more sources