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Results 1 - 8 of 8 for "3-Methylglutaconic" aciduria type 2
  1. Barth Syndrome (BTHS) From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    NINDS Barth Syndrome Information Page Table of Contents (click to jump to sections) What is Barth Syndrome? Is there any ... is being done? Clinical Trials Organizations What is Barth Syndrome? Barth syndrome (BTHS) is a rare, genetic disorder ...
  2. ... Testing Registry: 3-Methylglutaconic aciduria Genetic Testing Registry: 3-Methylglutaconic aciduria type 2 Genetic Testing Registry: 3-Methylglutaconic aciduria type 3 ...
  3. Causes of Cardiomyopathy (Children's Cardiomyopathy Foundation)  
    ... syndrome, Pompe disease, fatty acid oxidation defect or Barth syndrome. Most often, symptoms of these disorders present early ... deficiency, VCHAD, LCHAD, LCAD, MCAD), Pompe disease and Barth syndrome. When the demand for energy exceeds what the ...
  4. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
  5. National Institute of Neurological Disorders and Stroke (National Institute of Neurological Disorders and Stroke)  
    ... Deficit-Hyperactivity Disorder Autism Autonomic Dysfunction Back Pain Barth Syndrome Batten Disease Behcet's Disease Bell's Palsy Benign Essential ...
  6. What's Cardiomyopathy (Children's Cardiomyopathy Foundation)  
    ... a genetic disorder such as fatty acid oxidation, Barth syndrome, or Noonan syndrome. Cardiomyopathy can also be a ...
  7. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
  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 ...