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HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Barth syndrome cardiomyopathy

, 2018
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.
Dudek, Jan, Maack, Christoph
openaire   +1 more source

Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals. [PDF]

J Inherit Metab Dis
Fu K, Huang Y, Bowen V, McCurdy K, Tan RB, Phoon CKL, Marjoram L, Dahlen A.   +7 more
europepmc   +1 more source

Barth Syndrome

Pediatric Cardiology and Cardiac Surgery, 2016
openaire   +2 more sources

AMCP Market Insights: Managed care considerations in Barth syndrome. [PDF]

J Manag Care Spec Pharm
Flavin B, Vernon HJ, Todd Cade W, Contreras Z, Kobernick M, Rahman F, Richardson T, Wolff D.   +7 more
europepmc   +1 more source

Diaphragmatic Mitochondrial Myopathy in a Patient-Derived Mouse Model of Barth Syndrome. [PDF]

J Dev Biol
Tentler K, Snider PL, Matias C, Brault JJ, Conway SJ.   +4 more
europepmc   +1 more source

Elamipretide in pediatric Barth syndrome: from heart failure to school return. [PDF]

Orphanet J Rare Dis
Amedro P, Andrianoely M, Gohier P, Leroux J, Aladjidi N, Lagorce S, Daccord M, Audie M, Botte A, Nubret K, Richard P, Roche S, Lamireau D, Tetard C, Trimouille A, Desir A, Mesli S, Donadieu J, Gotchac J.   +18 more
europepmc   +1 more source

Barth Syndrome [PDF]

, 2019
openaire   +1 more source

Successful bridge to heart transplantation in a pediatric patient with biventricular heart failure associated with Barth syndrome: a case report. [PDF]

J Artif Organs
Arita K, Kido T, Taira M, Watanabe T, Narita J, Ishida H, Ishii R, Ueno T, Miyagawa S.   +8 more
europepmc   +1 more source

Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome. [PDF]

Basic Res Cardiol, 2023
Kutschka I, Bertero E, Wasmus C, Xiao K, Yang L, Chen X, Oshima Y, Fischer M, Erk M, Arslan B, Alhasan L, Grosser D, Ermer KJ, Nickel A, Kohlhaas M, Eberl H, Rebs S, Streckfuss-Bömeke K, Schmitz W, Rehling P, Thum T, Higuchi T, Rabinowitz J, Maack C, Dudek J.   +24 more
europepmc   +1 more source