米格鲁司他作为治疗SCARB2相关动作性肌阵挛性肾衰竭患者的疾病修饰疗法。 - Suppr

Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure.

作者信息

Colucci Fabiana, Dardis Andrea, Pavan Eleonora, Scarpa Maurizio, Gozzi Andrea, Antenucci Pietro, Farnè Marianna, Neri Marcella, Ferlini Alessandra, Tugnoli Valeria, Sechi Annalisa, Sensi Mariachiara

机构信息

Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy.

Parkinson and Movement Disorders Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

出版信息

Mov Disord Clin Pract. 2025 Feb;12(2):231-235. doi: 10.1002/mdc3.14273. Epub 2024 Nov 8.

DOI:10.1002/mdc3.14273

PMID:39512127

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11802652/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d0c/11802652/3d7dc34cb742/MDC3-12-231-g002.jpg

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Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure.

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