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Saving lives through education, advances in treatment and finding a cure for Barth syndrome

Barth Syndrome Trust image

Barth Syndrome Trust image

 

Resources for clinicians

Bibliography of all published scientific and medical articles 

A comprehensive on-line library which serves both the medical community and affected families.

 

Clinician Email Forum/Listserv

An on-going forum where members of our international Scientific and Medical Advisory Board, clinicians and researchers collaborate, ask questions and exchange the latest information about patients and treatments.

 

Medical brochures

Posters

Genetics, pathology and cardiology posters – see NHS Awareness Posters

 

Testing for Barth syndrome

Detailed information about when and how to test.

 

Barth Syndrome Registry and Repository

Please see our Registry and Repository Page

 

Fact Sheets

Peer-reviewed Orphanet Open Access Review of Barth syndrome

Feb 2013
 

Clarke SLN, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, R McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Barth syndrome. Orphanet Journal of Rare Diseases 2013, 8:23.

This publication was funded by the Barth Syndrome Trust and the Barth Syndrome Foundation.

 

 

Human Tafazzin (TAZ) Gene Mutation and Variation Database Submission

Please use this database to search for known mutations and add any new data from your patients.  We include all mutations and polymorphisms even when they are repeated. However, mutations within a family are not included as repeats. All mutations/polymorphisms are of unrelated cases.

 

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Doctors

Do you have a patient in crisis or need information about treating a patient with Barth syndrome? Please contact us and we’ll put you in touch with a clinician who has treated multiple patients with BTHS.

Barth Syndrome Trust graphic
Barth Syndrome Trust graphic
 
Barth Syndrome Trust graphic