Miglustat Therapy for SCARB2-Associated Action Myoclonus-Renal Failure Syndrome.
Imran H QuraishiAnna M SzekelyAnushree C ShiraliPramod K MistryLawrence J HirschPublished in: Neurology. Genetics (2021)
The response suggests that neurologic symptoms of SCARB2-associated AMRF could be ameliorated, at least partly, by targeting glycosphingolipid metabolism with available medications.
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