Barth Syndrome Journal
Barth syndrome: A life-threatening disorder caused by abnormal ...
Barth syndrome (BTHS) is a rare X-linked genetic disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, and organic aciduria.
Barth syndrome | Orphanet Journal of Rare Diseases | Full Text
First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), ...
Barth syndrome - PMC - PubMed Central
Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, ...
Richard Kelley that named the disorder, established its genetic origins and noted that its primary characteristics were cardiomyopathy, neutropenia and general ...
Barth Syndrome: Psychosocial Impact and Quality of Life Assessment
While considerable research has focused on specific aspects of BTHS, such as the management of neutropenia and heart failure, much less research ...
Current and future treatment approaches for Barth syndrome
Currently, there are no approved, disease-specific therapies directed at the molecular defect underlying Barth syndrome. However, two clinical ...
Then the words of Peter Barth came to me “The cruelest irony of this disease is how deceptively healthy these children appear.” It was then that I realized the ...
Barth Syndrome - an overview | ScienceDirect Topics
Patients have a spectrum of symptoms, including skeletal muscle weakness, neutropenia, growth delay, and cardiomyopathy. Cardiac disease associated with Barth ...
Case report of Barth syndrome: a forgotten cause of cardiomyopathy
European Heart Journal - Case Reports, Volume 5, Issue 7, July 2021, ytab195, https://doi.org/10.1093/ehjcr/ytab195. Published: 05 July 2021.
Barth Syndrome Cardiomyopathy: An Update - MDPI
Barth syndrome (BTHS) is an X-linked mitochondrial lipid disorder caused by mutations in the TAFAZZIN (TAZ) gene, which encodes a mitochondrial acyltransferase ...
Barth Syndrome: From Mitochondrial Dysfunctions Associated with ...
Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present ...
Clinical presentation and natural history of Barth Syndrome: An ...
Barth Syndrome is a rare X-linked disorder caused by pathogenic variants in the gene TAFAZZIN, which encodes for an enzyme involved in the ...
Barth syndrome cardiomyopathy - Oxford Academic
Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin.
Natural history of Barth syndrome: a national cohort study of 22 ...
This survey found that BTHS outcome was affected by cardiac events and by a risk of infection that was related to neutropenia.
Barth syndrome: mechanisms and management | TACG
Barth syndrome is an ultra-rare, infantile-onset, X-linked recessive mitochondrial disorder, primarily affecting males, due to variants in TAZ encoding for the ...
Barth syndrome-related cardiomyopathy is associated with a ...
Barth syndrome (BTHS) is a rare genetic disorder due to mutations in ... American Journal of Physiology-Heart and Circulatory Physiology Logo. Journal ...
New targets for monitoring and therapy in Barth syndrome - Nature
Barth syndrome (BTHS), an X-linked disorder caused by defects in TAZ, is the only known single-gene disorder of cardiolipin remodeling.
Barth syndrome cardiomyopathy: targeting the mitochondria with ...
Barth syndrome (BTHS) is a rare, X-linked recessive disorder characterized by cardiolipin abnormalities, skeletal muscle weakness, abnormal mitochondria, ...
Prenatal case report of Barth syndrome caused by novel TAFAZZIN ...
Barth syndrome (BTHS) is a rare X-linked recessive genetic disease, which appears in infancy with myocardial and skeletal muscle diseases, neutropenia, ...
Investigating the efficacy of mitochondria-targeted therapeutics in ...
Barth Syndrome (BTHS) is an X-linked recessive disorder in which patients can have shorter stature, weakened musculature, and are more prone ...