Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
Pub Date : 2024-02-01DOI: 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}
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