Barth Syndrome is an X‐linked disorder of mitochondrial cardiolipin metabolism caused by
pathogenic variants in TAFAZZIN with pleiotropic effects including cardiomyopathy …

Barth Syndrome is a rare X‐linked disorder caused by pathogenic variants in the gene
TAFAZZIN, which encodes for an enzyme involved in the remodeling of cardiolipin, a …

Barth syndrome (BTHS) is a rare, X-linked recessive, infantile-onset debilitating disorder
characterized by early-onset cardiomyopathy, skeletal muscle myopathy, growth delay, and …

Barth syndrome is a rare X-linked genetic disease classically characterized by
cardiomyopathy, skeletal myopathy, growth retardation, neutropenia, and 3 …

Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS).
Individuals with this X-linked multisystem disorder present cardiomyopathy (CM)(often …

Barth syndrome (BTHS) is a rare X-linked genetic disorder characterized by
cardiomyopathy, skeletal myopathy, neutropenia, and organic aciduria. The presence and …

Pediatric heart failure remains poorly understood, distinct in many aspects from adult heart
failure. Limited data point to roles of altered mitochondrial functioning and, in particular …

Mutation of the gene Tafazzin (TAZ) causes Barth syndrome, an X‐linked disorder
characterized by cardiomyopathy, skeletal muscle weakness, and neutropenia. TAZ is an …

Objectives: Barth syndrome is an ultra-rare, infantile-onset, X-linked recessive mitochondrial
disorder, primarily affecting males, due to variants in TAZ encoding for the cardiolipin …

The Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests
characteristic phenotypic features including altered mitochondrial membrane phospholipids …