Results 141 to 150 of about 1,216,936 (163)

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

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

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

Tafazzin deficiency causes substantial remodeling in the lipidome of a mouse model of Barth Syndrome cardiomyopathy. [PDF]

Front Mol Med
Hachmann M, Gülcan G, Rajendran R, Höring M, Liebisch G, Bachhuka A, Kohlhaas M, Maack C, Ergün S, Dudek J, Karnati S.   +10 more
europepmc   +1 more source

Reduced protein kinase C delta in a high molecular weight complex in mitochondria and elevated creatine uptake into Barth syndrome B lymphoblasts. [PDF]

J Transl Genet Genom
Mejia EM, Sparagna GC, Miller DW, Hatch GM.   +3 more
europepmc   +1 more source

Clinical laboratory studies in Barth Syndrome

Molecular Genetics and Metabolism, 2014
Barth Syndrome is a rare X-linked disorder characterized principally by dilated cardiomyopathy, skeletal myopathy and neutropenia and caused by defects in tafazzin, an enzyme responsible for modifying the acyl chain moieties of cardiolipin. While several
Hilary Vernon, Yana Sandlers
exaly   +2 more sources

Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome [PDF]

American Journal of Human Genetics, 1997
SummaryBarth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in the G4.5 gene, located in Xq28, have been described in four probands with Barth syndrome. We have now evaluated 14 Barth syndrome
Vicky L Funanage, Gerald F Cox, Roy Proujansky   +2 more
exaly   +2 more sources

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Clinical presentation and natural history of Barth Syndrome: An overview

Journal of Inherited Metabolic Disease, 2022
Hilary Vernon, Brittany Hornby, Carolyn Taylor   +2 more
exaly  

A Bayesian Analysis to Determine the Prevalence of Barth Syndrome in the Pediatric Population

Journal of Pediatrics, 2020
Michael Schlame, Colin Phoon, Mindong Ren   +2 more
exaly