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Results 1 - 2 of 2 for Carnitine "deficiency," myopathic
  1. ... NORD) ClinicalTrials.gov CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL ...
  2. ... 60 percent of the mutations that cause the myopathic form of CPT II deficiency.Without enough functioning carnitine palmitoyltransferase 2, long-chain fatty acids are not ...