Results 11 to 20 of about 1,210,543 (141)

Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults [PDF]

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, Jonathan Stokes, Anthony Aiudi, Iyar Mazar, Sarah Ollis, Emily Love, Alan Shields   +6 more
doaj   +5 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   +5 more sources

Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth Syndrome [PDF]

JIMD Reports
Barth syndrome (BTHS) is a rare X‐linked recessive disorder characterized by mutations in the TAFAZZIN gene, leading to mitochondrial dysfunction, cardioskeletal myopathy, neutropenia, exercise intolerance, and growth delay. While cardiac transplantation
W. Todd Cade, Kathryn L. Bohnert, Linda R. Peterson, Lisa de las Fuentes, Emily Poehlein, Cynthia L. Green, Christina A. Pacak, Barry J. Byrne, Dominic N. Reeds, Adil Bashir, Brian Feingold, Carolyn Taylor   +11 more
doaj   +4 more sources

Dietary linoleic acid supplementation fails to rescue established cardiomyopathy in Barth syndrome [PDF]

Journal of Molecular and Cellular Cardiology Plus
Barth 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, Jing Pang, Anh Nguyen, Helen Huynh, Sharon Lee, Yusu Gu, Frederic M. Vaz, Xi Fang   +7 more
doaj   +3 more sources

Metabolic switch from fatty acid oxidation to glycolysis in knock‐in mouse model of Barth syndrome

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, Angela Boshnakovska, Abhishek Aich, Aditi Methi, Ana Maria Vergel Leon, Ivan Silbern, Christian Lüchtenborg, Lukas Cyganek, Jan Prochazka, Radislav Sedlacek, Jiri Lindovsky, Dominic Wachs, Zuzana Nichtova, Dagmar Zudova, Gizela Koubkova, André Fischer, Henning Urlaub, Britta Brügger, Dörthe M Katschinski, Jan Dudek, Peter Rehling   +20 more
doaj   +3 more sources

Barth syndrome [PDF]

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, Bowron Ann, Gonzalez Iris L, Groves Sarah J, Newbury-Ecob Ruth, Clayton Nicol, Martin Robin P, Tsai-Goodman Beverly, Garratt Vanessa, Ashworth Michael, Bowen Valerie M, McCurdy Katherine R, Damin Michaela K, Spencer Carolyn T, Toth Matthew J, Kelley Richard I, Steward Colin G   +16 more
doaj   +5 more sources

Higher IL-6 and IL6:IGF Ratio in Patients with Barth Syndrome [PDF]

Journal of Inflammation, 2012
Background Barth Syndrome (BTHS) is a serious X-linked genetic disorder associated with mutations in the tafazzin gene (TAZ, also called G4.5). The multi-system disorder is primarily characterized by the following pathologies: cardiac and skeletal ...
Wilson Lori D, Al-Majid Sadeeka, Rakovski Cyril S, MD Christina D   +3 more
doaj   +4 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

Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Barth syndrome (BTHS) is a rare X‐linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodelling and mitochondrial function. While cardiac manifestations of BTHS are well characterized in male patients, the mechanisms underlying skeletal muscle weakness and fatigability are poorly
Matias C, Snider PL, Sierra Potchanant EA, Huot JR, Raghav R, Chin MT, Conway SJ, Brault JJ.   +7 more
europepmc   +2 more sources

Effects of Cannabidiol on TAFAZZIN-Deficient B-Lymphoblastoid Cells. [PDF]

FASEB J
Deficiency of the cardiolipin remodeling enzyme TAFAZZIN causes Barth syndrome (BTHS), resulting in cardiolipin loss, monolysocardiolipin (MLCL) accumulation, and electron transport chain (ETC) abnormalities in B‐lymphoblastoid cells. Effects of the non‐psychotropic phytocannabinoid cannabidiol (CBD) were examined on B‐lymphoblastoid cells from ...
Chan JZ, Berdeklis AN, Liu MR, Rahman FA, Tomczewski MV, Graham MQ, Musa M, Cocco AD, Stark KD, Quadrilatero J, Duncan RE.   +10 more
europepmc   +2 more sources