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Description
In the liver, defects in L-carnitine or -oxidation induce fat deposit and decrease ketone production, which is an alternative source of energy (instead of glucose) for the heart, skeletal muscles, and brain
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Tackling only one pathway isnt enough
Sphingolipids and ceramides in human aqueous humor
Rarely, a MECP2 mutation may be inherited from a carrier mother in whom favorable skewing of X-chromosome inactivation results in minimal to no clinical findings
