Associated Papers
The B-lymphoblastoid model in Barth syndrome.
Chan JZ et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2025
Mitochondria-Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human-Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model.
Tongu Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review.
Sergi CM
Genes, 2025
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes.
DiFalco CR et al.
Molecular Genetics and Metabolism, 2025
[Barth syndrome in an adult patient: an overview of the problem and case report. A review].
Muksinova MD et al.
Terapevticheskii Arkhiv, 2024
Clinical presentation and natural history of Barth Syndrome: An overview.
Taylor C et al.
Journal of Inherited Metabolic Disease, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Akiyama N et al.
Scientific Reports, 2021
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Barth Syndrome: Different Approaches to Diagnosis.
Imai-Okazaki A et al.
The Journal of Pediatrics, 2018
Pathogenic variants that alter protein code often disrupt splicing.
Soemedi R et al.
Nature Genetics, 2017
New clinical and molecular insights on Barth syndrome.
Ferri L et al.
Orphanet Journal of Rare Diseases, 2013
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
Swalwell H et al.
European Journal of Human Genetics : Ejhg, 2011
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE et al.
Nature Genetics, 2010