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Results 1 - 10 of 16 for "3-Methylglutaconic" aciduria type 2
  1. Barth syndrome 
    ... to their sons. 3 methylglutaconic aciduria, type II 3-methylglutaconic aciduria type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  2. Overview of Barth Syndrome (Barth Syndrome Foundation)  
    Mitochondrial Diseases/Specifics ... Mitochondrial Diseases ... Barth Syndrome Foundation
    https://barthsyndrome.org/barthsyndrome/whatisbarthsyndrome.html - External Health Links
  3. TAFAZZIN gene 
    ... the TAFAZZIN gene have been found to cause Barth syndrome. This rare condition occurs almost exclusively in males ... and short stature. TAFAZZIN gene mutations that cause Barth syndrome result in the production of tafazzin proteins with ...
    https://medlineplus.gov/genetics/gene/tafazzin - Genetics
  4. Mitochondrial Disorders From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Muscle Disorders/Specifics ... Muscle ...
    https://www.ninds.nih.gov/.../disorders/mitochondrial-disorders - External Health Links
  5. Mitochondrial Diseases (National Library of Medicine)  
    Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/mitochondrialdiseases.html - Health Topics
  6. Dilated cardiomyopathy with ataxia syndrome 
    ... chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006 May;43( ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  7. Cardiomyopathy (National Library of Medicine)  
    Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, ...
    https://medlineplus.gov/cardiomyopathy.html - Health Topics
  8. Newborn Screening (National Library of Medicine)  
    Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include: Tests ...
    https://medlineplus.gov/newbornscreening.html - Health Topics
  9. Patient support and advocacy groups 
    ... Axenfeld-Rieger Association Bardet Biedl Syndrome Family Association Barth Syndrome Foundation Batten Disease Family Association (UK) Batten Disease ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  10. DNAJC19 gene 
    ... chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006 May;43( ...
    https://medlineplus.gov/genetics/gene/dnajc19 - Genetics
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