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
Clinical presentation and natural history of Barth Syndrome: An overview.
Taylor C et al.
Journal of Inherited Metabolic Disease, 2022
A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.
Borna NN et al.
Journal of Human Genetics, 2017
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.
Hijikata A et al.
Meta Gene, 2015
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T et al.
Journal of Inherited Metabolic Disease, 2012
Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.
Bissler JJ et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2002
Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
Sakamoto O et al.
Journal of Human Genetics, 2002
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