Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome

OBJECTIVE: We evaluated whether substrate reduction therapy with miglustat could alter the course of action myoclonus–renal failure syndrome (AMRF), a rare, progressive myoclonic epilepsy with early mortality caused by scavenger receptor class B member 2 (SCARB2) gene mutations. METHODS: We identifi...

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Detalles Bibliográficos
Autores principales: Quraishi, Imran H., Szekely, Anna M., Shirali, Anushree C., Mistry, Pramod K., Hirsch, Lawrence J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8320328/
https://www.ncbi.nlm.nih.gov/pubmed/34337151
http://dx.doi.org/10.1212/NXG.0000000000000614

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8320328/
https://www.ncbi.nlm.nih.gov/pubmed/34337151
http://dx.doi.org/10.1212/NXG.0000000000000614

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