Home : Barth Syndrome Foundation
The only organization dedicated to saving lives around the world through education, advances in treatments, and finding a cure for Barth syndrome: a life-threatening genetic, multi-system …
What is Barth Syndrome? : Barth Syndrome : Barth Syndrome …
Barth syndrome (BTHS; OMIM #302060) is a serious X-linked genetic disorder, primarily affecting males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5), resulting in an …
Overview : About BSF : Barth Syndrome Foundation
About the Barth Syndrome Foundation (BSF) We are the only world-wide volunteer organization dedicated to saving lives through education, advances in treatment, and finding a cure for …
FACT sheets about Barth syndrome
Heat intolerance or oversensitivity to extreme ambient temperature is common in those with mitochondrial disorders, such as Barth syndrome. Learn more about these risks and …
Female Carriers of Barth Syndrome
There is a huge spectrum of family planning options open to carriers of a Barth syndrome gene variant (TAZ) who are at risk of passing that mutation on to their children. There is no right or …
Barth syndrome genetics
The inheritance of Barth syndrome follows an “X-linked” (or “sex-linked”) recessive pattern in which females can be carriers of a TAZ mutation but only males will have the disease. …
RESEARCH & DEVELOPMENT - Barth syndrome
As Barth syndrome science has matured, so too has our approach. Announced in 2021, our new Strategic Plan includes an expansion of Research alongside Development efforts to get to …
Elamipretide Moves One Step Closer - Barth syndrome
Boston, April 3, 2024 - We have learned from Stealth BioTherapeutics that the U.S. Food and Drug Administration (FDA) has agreed to file and review the new drug application (NDA) for …
168-week open-label extension results of TAZPOWER - Barth …
Barth syndrome is a disorder characterized by disruptions in mitochondrial function. Mitochondria are often called “the powerhouse of the cell” and when they are disrupted, less energy is …
Tools for School/ Families : Family Resources - Barth syndrome
Guidance for educating a child with Barth syndrome. Resources for the young learner, parents and educators such as but not limited to IEP, 504, IDEA, explanations about Barth syndrome.
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