Results 11 to 20 of about 6,529 (164)

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, Bhargava Chinni, Hilary Vernon, W. Reid Thompson, Brittany Hornby, Shelby Kutty, Cedric Manlhiot   +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 Diseases
Background 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, Alan Shields, Emily Love, Sarah Ollis, Jonathan Stokes, Iyar Mazar, Ethan Arenson, Anthony Aiudi, R. J. Wirth, Carrie Houts   +9 more
doaj   +2 more sources

Bezafibrate as treatment in males for Barth syndrome: CARDIOMAN, a double-blind, placebo-controlled crossover RCT

Efficacy and Mechanism Evaluation
Background 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, Colin Steward, Lucy Dabner, Laura Collet, Lucy Culliford, Karen Sheehan, Lucy Ellis, Michaela Damin, Eva Sammut, Nuno Duarte, Owen Burgess, Curtis Wadey, Craig Williams, John Crosby, Sarah Groves, Aidan Searle, Borko Amulic, Chris Rice, Chiara Bucciarelli-Ducci, Andrew Ness, Julian Hamilton-Shield, Chris A Rogers, Barnaby C Reeves   +22 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 Dis
ABSTRACT 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, Huang Y, Bowen V, McCurdy K, Tan RB, Phoon CKL, Marjoram L, Dahlen A.   +7 more
europepmc   +2 more sources

A murine model of Barth syndrome recapitulates human cardiac and skeletal muscle phenotypes [PDF]

Disease Models & Mechanisms
Erika Yazawa, Erin M. Keating, Suya Wang, Mason E. Sweat, Qing Ma, Yang Xu, Michael Schlame, William T. Pu   +7 more
doaj   +2 more sources

Extended recovery of cardiac function after severe infantile cardiomyopathy presentation of Barth syndrome

JIMD Reports, 2022
Cardiomyopathy is the most common presenting feature of Barth syndrome, often presenting in infancy with severe heart failure and cardiac dysfunction. Historically, affected infants commonly died early after presentation, sometimes before a diagnosis of ...
Jessie Yester, Brian Feingold
doaj   +1 more source

Assessing olfactory functions in patients with Barth syndrome. [PDF]

PLoS ONE, 2017
Barth syndrome is a rare X-linked disease affecting less than 200 individuals worldwide. Several comorbidities have been associated with the pathology and, among those, cardiac myopathy and neutropenia are the most life threatening.
Michele Dibattista, Simona Lobasso, Sebastiano Stramaglia, Angela Corcelli   +3 more
doaj   +1 more source

Barth syndrome cardiomyopathy [PDF]

Cardiovascular Research, 2017
Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the biosynthesis of the unique phospholipid cardiolipin (CL), which is almost exclusively found in mitochondrial membranes.
Jan, Dudek, Christoph, Maack
openaire   +2 more sources

Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. [PDF]

PLoS ONE, 2016
Barth Syndrome is the only known Mendelian disorder of cardiolipin remodeling, with characteristic clinical features of cardiomyopathy, skeletal myopathy, and neutropenia.
Yana Sandlers, Kelly Mercier, Wimal Pathmasiri, Jim Carlson, Susan McRitchie, Susan Sumner, Hilary J Vernon   +6 more
doaj   +1 more source

Mechano‐energetic aspects of Barth syndrome [PDF]

Journal of Inherited Metabolic Disease, 2021
AbstractEnergy‐demanding organs like the heart are strongly dependent on oxidative phosphorylation in mitochondria. Oxidative phosphorylation is governed by the respiratory chain located in the inner mitochondrial membrane. The inner mitochondrial membrane is the only cellular membrane with significant amounts of the phospholipid cardiolipin, and ...
Dudek, Jan, Maack, Christoph
openaire   +3 more sources