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379 results
  1. ... 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. ... published></health-condition-summary><health-condition-summary ><name >Barth syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  3. ... Alagille Syndrome Aortic Coarctation Arrhythmogenic Right Ventricular Dysplasia Barth Syndrome Cor Triatriatum Coronary Vessel Anomalies Bland White Garland ...
  4. ... Arrhythmogenic Right Ventricular Dysplasia C14.240.400.172 Barth Syndrome C14.240.400.200 Cor Triatriatum C14.240. ... Arrhythmogenic Right Ventricular Dysplasia C14.280.400.172 Barth Syndrome C14.280.400.200 Cor Triatriatum TREE_NUMBER ...
  5. ... Arrhythmogenic Right Ventricular Dysplasia C14.240.400.172...........................................Barth Syndrome C14.240.400.200...........................................Cor Triatriatum C14.240. ...
  6. ... Disease? (United Mitochondrial Disease Foundation) Specifics Overview of Barth Syndrome (Barth Syndrome Foundation) Genetics 2-hydroxyglutaric aciduria: MedlinePlus ...
  7. ... 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; ...
  8. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/barth-syndrome</url><title >Barth syndrome</title><other_names ><other_name >3 methylglutaconic aciduria, ...
  9. ... Gene Locus Links Similar articles in PubMed Review Barth Syndrome. [GeneReviews(®). 1993] Review Barth Syndrome. Ferreira C, Pierre G, Thompson R, Vernon H. ...
  10. ... 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 ...
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