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  1. Barth Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK247162
    ... Search term GeneReviews Advanced Search Help < Prev Next > Barth Syndrome Carlos Ferreira , MD, Germaine Pierre , MBBS, MRCPCH, MSc, ... Epilepsy & optic atrophy 1 TAFAZZIN (formerly TAZ ) XL Barth syndrome (topic of this GeneReview ) In males, cardiomyopathy (left ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Barth syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  3. Mitochondrial Diseases 
    https://medlineplus.gov/mitochondrialdiseases.html
    ... Disease? (United Mitochondrial Disease Foundation) Specifics Overview of Barth Syndrome (Barth Syndrome Foundation) Genetics 2-hydroxyglutaric aciduria: MedlinePlus ...
  4. Costeff Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1473
    ... epilepsy & optic atrophy) TAFAZZIN ( TAZ ) XL TAFAZZIN defect ( Barth syndrome ) Cardiomyopathy; 5 skeletal myopathy; DD; growth restriction; neutropenia ... Wanders RJ. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A. 2004; ...
  5. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/barth-syndrome</url><title >Barth syndrome</title><other_names ><other_name >3 methylglutaconic aciduria, ...
  6. Danon Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK554742
    ... Gene Locus Links Similar articles in PubMed Review Barth Syndrome. [GeneReviews(®). 1993] Review Barth Syndrome. Ferreira C, Pierre G, Thompson R, Vernon H. ...
  7. Dilated Cardiomyopathy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1309
    ... 1 Gene(s) MOI Other Clinical Features Comments Barth syndrome TAFAZZIN ( TAZ ) XL Neutropenia Muscle weakness Growth delay ... a specific syndrome associated with DCM (e.g., Barth syndrome or Duchenne muscular dystrophy ), counseling for that condition ...
  8. SERAC1 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK195853
    ... found in MEGD[H]EL syndrome) TAFAZZIN ( TAZ ) Barth syndrome XL Present * In males, cardiomyopathy (left ventricular noncompaction), ... with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a ... SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers ...
  9. Patient support and advocacy groups 
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups
    ... Axenfeld-Rieger Association Bardet Biedl Syndrome Family Association Barth Syndrome Foundation Batten Disease Family Association (UK) Batten Disease ...
  10. ELANE-Related Neutropenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1533
    ... hypoplasia Chediak-Higashi syndrome Griscelli syndrome (OMIM PS214450 ) Barth syndrome Wiskott-Aldrich syndrome (See WAS -Related Disorders .) Dyskeratosis ...
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