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Results 1 - 7 of 7 for Carnitine acylcarnitine translocase deficiency
Did you mean Carnitine "acyl carnitine" translocase deficiency?
  1. Carnitine-acylcarnitine translocase deficiency 
    ... signs and symptoms of the condition. CACT deficiency Carnitine acylcarnitine translocase deficiency Carnitine-acylcarnitine carrier deficiency Genetic Testing Registry: Carnitine ...
    https://medlineplus.gov/...tine-acylcarnitine-translocase-deficiency - Genetics
  2. SLC25A20 gene 
    ... Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. Mol Genet Metab. 2003 Jan;78(1):68- ... Birk OS, Kazanovitz A, Moses SW, Hershkovitz E. Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a ...
    https://medlineplus.gov/genetics/gene/slc25a20 - Genetics
  3. Lipid Metabolism Disorders (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/lipidmetabolismdisorders.html - Health Topics
  4. 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
  5. 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
  6. CPT2 gene 
    ... 20320. Citation on PubMed Ramsay RR, Zammit VA. Carnitine ... II deficiency: a clinical, biochemical, and molecular review. Lab Invest. ...
    https://medlineplus.gov/genetics/gene/cpt2 - Genetics
  7. CPT1A gene 
    ... CR. Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North ... VA. Carnitine acyltransferases and their influence on CoA pools in health ...
    https://medlineplus.gov/genetics/gene/cpt1a - Genetics