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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease carnitine deficiency, systemic primary
Symptom C0026848|myopathy
Sentences 2
PubMedID- 22294053 We hypothesize that observed improvement related to the resolution of reversible metabolic encephalopathy and myopathy associated with secondary carnitine deficiency.
PubMedID- 26037247 In conclusion, myopathy associated with carnitine deficiency can have different causes.

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