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Results 1 - 3 of 3 for Carnitine acylcarnitine translocase deficiency
  1. ... 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 ...
  2. ... 20320. Citation on PubMed Ramsay RR, Zammit VA. Carnitine ... II deficiency: a clinical, biochemical, and molecular review. Lab Invest. ...
  3. ... CR. Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North ... VA. Carnitine acyltransferases and their influence on CoA pools in health ...