Two hundred and fifty cases of “Gaucher disease type 2 “: A novel system of clinical categorization and evidence of genotype:phenotype correlation

{"title":"Two hundred and fifty cases of “Gaucher disease type 2 “: A novel system of clinical categorization and evidence of genotype:phenotype correlation","authors":"Aimee Donald , Shona Brothwell , Christoffer Ehrstedt , Jose Ramon Fernandez-Fructuoso , Domingo Gonzalez-Lamuño Leguina , Jose Maria Lloreda Garcia , Cyril Mignot , Beatriz Muñoz , James H. Nurse , Siobhan O'Sullivan , Anna Nielsen Persson , Julian A. Raiman , Deepa Rajan , Jose Uberos , Simon Jones , Heather J. Church","doi":"10.1016/j.ymgme.2024.108705","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108705"},"PeriodicalIF":3.7000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular genetics and metabolism","FirstCategoryId":"99","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1096719224005894","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}