米格鲁司特作为疾病调节疗法用于一名 SCARB2 相关性肌阵挛肾衰竭患者。

{"title":"米格鲁司特作为疾病调节疗法用于一名 SCARB2 相关性肌阵挛肾衰竭患者。","authors":"Fabiana Colucci, Andrea Dardis, Eleonora Pavan, Maurizio Scarpa, Andrea Gozzi, Pietro Antenucci, Marianna Farnè, Marcella Neri, Alessandra Ferlini, Valeria Tugnoli, Annalisa Sechi, Mariachiara Sensi","doi":"10.1002/mdc3.14273","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":19029,"journal":{"name":"Movement Disorders Clinical Practice","volume":" ","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure.\",\"authors\":\"Fabiana Colucci, Andrea Dardis, Eleonora Pavan, Maurizio Scarpa, Andrea Gozzi, Pietro Antenucci, Marianna Farnè, Marcella Neri, Alessandra Ferlini, Valeria Tugnoli, Annalisa Sechi, Mariachiara Sensi\",\"doi\":\"10.1002/mdc3.14273\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":19029,\"journal\":{\"name\":\"Movement Disorders Clinical Practice\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2024-11-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Movement Disorders Clinical Practice\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/mdc3.14273\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Movement Disorders Clinical Practice","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/mdc3.14273","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}