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Effective AAV-mediated gene therapy in a mouse model of ...
Ethylmalonic encephalopathy (EE) is an invariably fatal disease, characterized by the accumulation of hydrogen sulfide (H 2 S), a highly toxic compound. ETHE1 , encoding sulfur dioxygenase (SDO), which takes part in the mitochondrial pathway that converts sulfide into harmless sulfate, is mutated in EE.