Barth syndrome is a rare and potentially fatal X-linked disease characterized by
cardiomyopathy, skeletal muscle weakness, growth delays, and cyclic neutropenia. Patients …

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 …

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

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 …

Background Natural history studies are increasingly recognized as having an important role
in drug development for rare diseases. A phase 3, observational, retrospective, and non …

Barth syndrome is a rare X-linked genetic disorder caused by mutations in the tafazzin (TAZ)
gene that result in dilated cardiomyopathy, skeletal myopathy and neutropenia. Tafazzin has …

Purpose To evaluate effectiveness of elamipretide in Barth syndrome (BTHS), a genetic
condition of defects in TAZ, which causes abnormal cardiolipin on the inner mitochondrial …

Background: Barth syndrome is a rare, life-threatening, X-linked recessive genetic disease
that predominantly affects young males and is caused by abnormal mitochondrial lipid …

Background Barth syndrome is an inherited disorder that results from pathogenic mutations
in TAZ, the gene responsible for encoding tafazzin, an enzyme that remodels the …