Results 91 to 100 of about 946 (107)

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

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

A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism

Genetics in Medicine, 2021
Brittany Hornby, Hilary J Vernon, Vernon Hilary J   +2 more
exaly  

Neurological & psychological aspects of Barth syndrome: Clinical manifestations and potential pathogenic mechanisms

Mitochondrion, 2021
Mindong Ren, Colin K L Phoon
exaly  

Loss of Mitochondrial Ca 2+ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy

Circulation, 2021
Edoardo Bertero, Alexander G Nickel, Mathias Hohl   +2 more
exaly  

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

EMBO Molecular Medicine, 2023
Arpita Chowdhury, Angela Boshnakovska, Ivan Silbern   +2 more
exaly  

Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

American Journal of Human Genetics, 1997
Richard I Kelley, Annette Feigenbaum, Gerald F Cox   +2 more
exaly  

<p>Barth syndrome: mechanisms and management</p>

The Application of Clinical Genetics, 2019
Josef Finsterer
exaly  

Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28

American Journal of Medical Genetics Part A, 1993
A K Gedeon, J C Mulley, Kei Lui
exaly  

Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

EMBO Molecular Medicine, 2016
Sylvie Callegari, Karl Toischer, Ronald J A Wanders   +2 more
exaly  

Clinical laboratory studies in Barth Syndrome

Molecular Genetics and Metabolism, 2014
Hilary J Vernon, Yana Sandlers, Rebecca Mcclellan   +2 more
exaly