article_metadata: Fabiana Colucci Andrea Dardis Eleonora Pavan Maurizio Scarpa Andrea Gozzi Pietro Antenucci Marianna Farnè Marcella Neri Alessandra Ferlini Valeria Tugnoli Annalisa Sechi Mariachiara Sensi
article_metadata: 10.1002/mdc3.14273
article_metadata: Mov Disord Clin Pract
article_metadata: 2025 Feb;12(2):231-235.
article_metadata: lyso‐gb1 action myoclonus renal failure (amrf) disease‐modifying therapy lysosomal integral membrane protein type 2 (limp‐2) miglustat scavenger receptor class b member 2 gene (scarb2)
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39512127/
article_metadata: Case Reports
article_metadata: PMC11802652
article_metadata: 39512127
article_metadata: Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure
article_metadata: 2025