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Results 1 - 8 of 8 for Carnitine palmitoyltransferase I deficiency
  1. ... type I CPT I deficiency Liver form of carnitine palmitoyltransferase deficiency Genetic Testing Registry: Carnitine palmitoyl transferase 1A deficiency ...
  2. ... not show signs and symptoms of the condition. Carnitine palmitoyltransferase 2 deficiency CPT II deficiency CPT2 deficiency Genetic Testing Registry: ...
  3. ... PubMed Deschauer M, Wieser T, Zierz S. Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. ...
  4. ... in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. Mol Genet Metab. 2004 May;82(1):59- ... 004. Citation on PubMed Bennett MJ, Santani AB. Carnitine Palmitoyltransferase 1A Deficiency. 2005 Jul 27 [updated 2016 Mar 17]. In: ...
  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 ...
  6. 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 ...
  7. 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 ...
  8. Find a Neuromuscular Disease (Muscular Dystrophy Association)  
    Neuromuscular Disorders/Start Here ... Neuromuscular Disorders ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy ...