Results 111 to 120 of about 6,529 (164)

Case Report: A Chinese child with Barth syndrome caused by a novel TAFAZZIN mutation. [PDF]

Front Cardiovasc Med
Che M, Li F, Jia Y, Liu Q, Hu J, Zhang J, Liu S.   +6 more
europepmc   +1 more source

Health-related quality of life and family functioning in parents of children with Barth syndrome: an application of the Double ABCX model. [PDF]

Orphanet J Rare Dis
Lim Y, Hong I, Han A.
europepmc   +1 more source

Rescue of mitochondrial dysfunction through alteration of extracellular matrix composition in barth syndrome cardiac fibroblasts. [PDF]

Biomaterials
Piñeiro-Llanes J, Suzuki-Hatano S, Jain A, Venigalla S, Kamat M, Basso KB, Cade WT, Simmons CS, Pacak CA.   +8 more
europepmc   +1 more source

Expanded-access use of elamipretide in a critically ill patient with Barth syndrome. [PDF]

Genet Med Open
Goldstein AC, Pantano C, Redko M, MacMullen LE, Maeda K, O'Connor MJ.   +5 more
europepmc   +1 more source

ECG Findings Are Poor Predictors for Adverse Events and Cardiac Death in Barth Syndrome. [PDF]

Prog Pediatr Cardiol
Hutchinson A, Taylor CL, Chowdhury SM, Jackson L.   +3 more
europepmc   +1 more source

Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome. [PDF]

Hum Mol Genet
Sniezek Carney O, Harris KW, Wohlfarter Y, Lee K, Butschek G, Anzmann AF, Hamacher-Brady A, Keller MA, Vernon HJ.   +8 more
europepmc   +1 more source

Correction: Stimulating the sir2-spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome. [PDF]

Dis Model Mech
Damschroder D, Zapata-Pérez R, Richardson K, Vaz FM, Houtkooper RH, Wessells R.   +5 more
europepmc   +1 more source

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

J Mol Cell Cardiol Plus
Zhu S, Pang J, Nguyen A, Huynh H, Lee S, Gu Y, Vaz FM, Fang X.   +7 more
europepmc   +1 more source

A Barth Syndrome Patient-Derived D75H Point Mutation in TAFAZZIN Drives Progressive Cardiomyopathy in Mice. [PDF]

Int J Mol Sci
Snider PL, Sierra Potchanant EA, Sun Z, Edwards DM, Chan KK, Matias C, Awata J, Sheth A, Pride PM, Payne RM, Rubart M, Brault JJ, Chin MT, Nalepa G, Conway SJ.   +14 more
europepmc   +1 more source

Temporal Effects of Safflower Oil Diet-Based Linoleic Acid Supplementation on Barth Syndrome Cardiomyopathy. [PDF]

Circulation
Zhu S, Pang J, Nguyen A, Tan C, Tso A, Huynh T, Gu Y, Gustafsson AB, Vaz FM, Evans SM, Fang X.   +10 more
europepmc   +1 more source