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Results 1 - 1 of 1 for Renal carnitine transport defect
  1. SLC22A5 gene 
    ... IA. Carnitine transport by organic cation transporters and systemic carnitine deficiency. Mol Genet Metab. 2001 Aug;73(4):287- ... gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat. 2010 Aug;31(8):E1632-51. ...
    https://medlineplus.gov/genetics/gene/slc22a5 - Genetics