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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/11802652/1aa21c6990b0/MDC3-12-231-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d0c/11802652/3d7dc34cb742/MDC3-12-231-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d0c/11802652/1aa21c6990b0/MDC3-12-231-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d0c/11802652/3d7dc34cb742/MDC3-12-231-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d0c/11802652/1aa21c6990b0/MDC3-12-231-g001.jpg

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3
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本文引用的文献

1
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.葡萄糖脑苷脂酶活性缺乏症：PSAP 和 LIMP-2 功能障碍。
Int J Mol Sci. 2024 Jun 16;25(12):6615. doi: 10.3390/ijms25126615.
2
Could miglustat be a potential candidate in the treatment of action myoclonus renal failure syndrome?米格列醇能否成为治疗行动性肌阵挛性肾衰竭综合征的潜在候选药物？
Acta Neurol Belg. 2023 Dec;123(6):2441-2444. doi: 10.1007/s13760-023-02269-z. Epub 2023 Apr 29.
3
Miglustat Therapy for -Associated Action Myoclonus-Renal Failure Syndrome.
米格列司他治疗伴有行动性肌阵挛-肾衰竭综合征。
Neurol Genet. 2021 Jul 28;7(5):e614. doi: 10.1212/NXG.0000000000000614. eCollection 2021 Oct.
4
SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.行动性肌阵挛-肾衰竭综合征中的SCARB2/LIMP2缺乏症
Epileptic Disord. 2016 Sep 1;18(S2):63-72. doi: 10.1684/epd.2016.0843.
5
Progressive myoclonus epilepsy with nephropathy C1q due to SCARB2/LIMP-2 deficiency: clinical report of two siblings.伴肾病 C1q 的 SCARB2/LIMP-2 缺乏致进行性肌阵挛癫痫：两例同胞的临床报告。
Seizure. 2011 Nov;20(9):738-40. doi: 10.1016/j.seizure.2011.06.018. Epub 2011 Jul 22.
6
Gastrointestinal disturbances and their management in miglustat-treated patients.接受米格列醇治疗的患者的胃肠道紊乱及其处理。
J Inherit Metab Dis. 2011 Oct;34(5):991-1001. doi: 10.1007/s10545-011-9368-7. Epub 2011 Jul 21.
7
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.溶酶体整合膜蛋白 2（LIMP-2）内的致病突变揭示了其与配体β-葡糖脑苷脂酶结合的性质。
Hum Mol Genet. 2010 Feb 15;19(4):563-72. doi: 10.1093/hmg/ddp523. Epub 2009 Nov 20.
8
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.一名因β-葡萄糖苷酶靶向错误而患有肌阵挛性癫痫患者的生化和分子学发现。
Mol Genet Metab. 2009 Aug;97(4):309-11. doi: 10.1016/j.ymgme.2009.04.011. Epub 2009 May 3.
9
Randomized, controlled trial of miglustat in Gaucher's disease type 3.米格鲁司他治疗3型戈谢病的随机对照试验。
Ann Neurol. 2008 Nov;64(5):514-22. doi: 10.1002/ana.21491.
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[Type 1 Gaucher's disease in the adult. Nutritional management during initiation of treatment with miglustat].成人1型戈谢病。米格鲁司特治疗起始阶段的营养管理
Presse Med. 2004 Apr 10;33(7):494-6. doi: 10.1016/s0755-4982(04)98639-3.