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Results 1 - 4 of 4 for Carnitine acylcarnitine translocase deficiency
  1. ... signs and symptoms of the condition. CACT deficiency Carnitine acylcarnitine translocase deficiency Carnitine-acylcarnitine carrier deficiency Genetic Testing Registry: Carnitine ...
  2. ... 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 ...
  3. ... 20320. Citation on PubMed Ramsay RR, Zammit VA. Carnitine ... II deficiency: a clinical, biochemical, and molecular review. Lab Invest. ...
  4. ... article on PubMed Central Ramsay RR, Zammit VA. Carnitine acyltransferases and their influence on CoA pools in health ...