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Safety and preliminary efficacy of LYS-GM101 gene therapy in patients with GM1 gangliosidosis: Results of a phase I/II open-label clinical trial LYS-GM101基因疗法对GM1神经节苷脂病患者的安全性和初步疗效：I/II期开放标签临床试验结果
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107839
Arunabha Ghosh, Bénédicte Héron, Aimee Donald, Harriet Chang, Laura Furness, Nina Movsesyan, Claudia Ravelli, Simon Jones, Raymond Y. Wang
{"title":"Safety and preliminary efficacy of LYS-GM101 gene therapy in patients with GM1 gangliosidosis: Results of a phase I/II open-label clinical trial","authors":"Arunabha Ghosh, Bénédicte Héron, Aimee Donald, Harriet Chang, Laura Furness, Nina Movsesyan, Claudia Ravelli, Simon Jones, Raymond Y. Wang","doi":"10.1016/j.ymgme.2023.107839","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107839","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"45 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139829778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A phase III clinical trial of GC1111 as an enzyme replacement therapy in previously untreated mucopolysaccharidosis type II (Hunter syndrome) patients: A double-blind, randomized, active-controlled (part 1) and open-labeled, historical placebo-controlled (part 2) study GC1111作为一种酶替代疗法，对既往未接受过治疗的II型粘多糖病（亨特综合征）患者进行的III期临床试验：双盲、随机、活性对照（第1部分）和开放标签、历史安慰剂对照（第2部分）研究
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107903
Dongkyu Jin, Jinsup Kim, A. Yang, SooKyung Shin
{"title":"A phase III clinical trial of GC1111 as an enzyme replacement therapy in previously untreated mucopolysaccharidosis type II (Hunter syndrome) patients: A double-blind, randomized, active-controlled (part 1) and open-labeled, historical placebo-controlled (part 2) study","authors":"Dongkyu Jin, Jinsup Kim, A. Yang, SooKyung Shin","doi":"10.1016/j.ymgme.2023.107903","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107903","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"53 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139830358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Application of a pentasaccharide biomarker to access treatment efficacy of gene therapy for GM1 gangliosidosis 应用五糖生物标记物检测 GM1 神经节苷脂病基因疗法的疗效
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107913
Pamela J. Kell, Sonali Mishra, Precilla D’Souza, C. Tifft, Xuntian Jiang
{"title":"Application of a pentasaccharide biomarker to access treatment efficacy of gene therapy for GM1 gangliosidosis","authors":"Pamela J. Kell, Sonali Mishra, Precilla D’Souza, C. Tifft, Xuntian Jiang","doi":"10.1016/j.ymgme.2023.107913","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107913","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"481 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139833033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Real-world experience of switching treatments from alglucosidase alfa to avalglucosidase alfa for patients enrolled in the Pompe Registry 庞贝氏症登记患者从阿糖苷酶α转为阿瓦糖苷酶α治疗的实际经验
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107917
Priya S. Kishnani, M. Abbott, Antonio Toscano, M. Foster, Magali Periquet, S. Sparks, Benedikt Schoser
{"title":"Real-world experience of switching treatments from alglucosidase alfa to avalglucosidase alfa for patients enrolled in the Pompe Registry","authors":"Priya S. Kishnani, M. Abbott, Antonio Toscano, M. Foster, Magali Periquet, S. Sparks, Benedikt Schoser","doi":"10.1016/j.ymgme.2023.107917","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107917","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"24 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139883120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel quantitative high-throughput screening assay identifies small-molecule therapeutic candidates for Gaucher and Parkinson disease 一种新型定量高通量筛选测定可确定治疗戈谢病和帕金森病的小分子候选疗法
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107853
Logan M. Glasstetter, T. Jong, Darian Williams, Mark Henderson, Yu Chen, Ellen Sidransky
{"title":"A novel quantitative high-throughput screening assay identifies small-molecule therapeutic candidates for Gaucher and Parkinson disease","authors":"Logan M. Glasstetter, T. Jong, Darian Williams, Mark Henderson, Yu Chen, Ellen Sidransky","doi":"10.1016/j.ymgme.2023.107853","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107853","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"32 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139883566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cardiac biomarkers in Fabry disease 法布里病的心脏生物标志物
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107980
Pooja Nandi, Robert Ellis, Biliana Veleva-Rotse, Jennifer Hiros, Paul Howard
{"title":"Cardiac biomarkers in Fabry disease","authors":"Pooja Nandi, Robert Ellis, Biliana Veleva-Rotse, Jennifer Hiros, Paul Howard","doi":"10.1016/j.ymgme.2023.107980","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107980","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139883795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Decrease in psychosine in response to a ceramide galactosyltransferase inhibitor in a novel human cell model of Krabbe disease 在一种新型克拉伯病人类细胞模型中，神经酰胺半乳糖基转移酶抑制剂导致精神氨酸减少
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.108048
R. Starosta, S. Le, Xiaoxia Cui, Robert E. Schmidt, Xuntian Jiang, Mark Sands, Patricia I. Dickson
{"title":"Decrease in psychosine in response to a ceramide galactosyltransferase inhibitor in a novel human cell model of Krabbe disease","authors":"R. Starosta, S. Le, Xiaoxia Cui, Robert E. Schmidt, Xuntian Jiang, Mark Sands, Patricia I. Dickson","doi":"10.1016/j.ymgme.2023.108048","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108048","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"22 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139885697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Metab-Latam: Sharing scientific knowledge about lysosomal disorders in Latin America Metab-Latam：分享拉丁美洲溶酶体疾病的科学知识
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.108035
Ida Vanessa D. Schwartz, Eliana M. Martínez Bazán, D. Randon, Isabela A. Fink, Fernando S. Azambuja, Arthur M. Alberti
{"title":"Metab-Latam: Sharing scientific knowledge about lysosomal disorders in Latin America","authors":"Ida Vanessa D. Schwartz, Eliana M. Martínez Bazán, D. Randon, Isabela A. Fink, Fernando S. Azambuja, Arthur M. Alberti","doi":"10.1016/j.ymgme.2023.108035","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108035","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139891038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
What lies beneath: Next generation sequencing unraveling Niemann-Pick disease type C in adults 疾病的真相新一代测序揭开成人尼曼-皮克病 C 型的神秘面纱
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107941
C. M. Lourenço, A. Queiroz, Lilian Sansão, Maria da Penha Ananias Morita, Erica Coelho, J. Fonseca
{"title":"What lies beneath: Next generation sequencing unraveling Niemann-Pick disease type C in adults","authors":"C. M. Lourenço, A. Queiroz, Lilian Sansão, Maria da Penha Ananias Morita, Erica Coelho, J. Fonseca","doi":"10.1016/j.ymgme.2023.107941","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107941","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"116 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139875910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tolerability of pegunigalsidase alfa across the clinical program: Integrated analysis of infusion-related reactions by dosing regimens 整个临床项目中 pegunigalsidase alfa 的耐受性：按给药方案综合分析输液相关反应
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107888
Derralynn Hughes, John Bernat, A. Linhart, Nicola Longo, Ankit Mehta, Camilla Tøndel, B. Vujkovac, Rossana Rocco, Irene Koulinska, R. Chertkoff, Sari Alon, Anat Sakov, Eric Wallace
{"title":"Tolerability of pegunigalsidase alfa across the clinical program: Integrated analysis of infusion-related reactions by dosing regimens","authors":"Derralynn Hughes, John Bernat, A. Linhart, Nicola Longo, Ankit Mehta, Camilla Tøndel, B. Vujkovac, Rossana Rocco, Irene Koulinska, R. Chertkoff, Sari Alon, Anat Sakov, Eric Wallace","doi":"10.1016/j.ymgme.2023.107888","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107888","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"52 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139683885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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