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Results 1 - 4 of 4 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. 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
  4. 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