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}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107921
Francyne Kubaski, Allison Cason, Laura Pollard
{"title":"Sensitivity and specificity of serum oligosaccharide analysis for the diagnosis and treatment monitoring of patients with alpha-mannosidosis","authors":"Francyne Kubaski, Allison Cason, Laura Pollard","doi":"10.1016/j.ymgme.2023.107921","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107921","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"11 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139686657","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.2023.107873
Jerry F. Harb, Shih-hsin Kan, Nancy D. Dalton, Alejandra Padilla, Chloe Christensen, Allisandra K. Rha, Perla Andrade-Heckman, Yunghang Chan, Evelyn Torres, Raymond Y. Wang, Dwight D. Koeberl
{"title":"Exploring Pompe disease: Insights into the natural history of novel knock-in murine model","authors":"Jerry F. Harb, Shih-hsin Kan, Nancy D. Dalton, Alejandra Padilla, Chloe Christensen, Allisandra K. Rha, Perla Andrade-Heckman, Yunghang Chan, Evelyn Torres, Raymond Y. Wang, Dwight D. Koeberl","doi":"10.1016/j.ymgme.2023.107873","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107873","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"25 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139686832","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.2023.107864
Jacky M. Guerrero, A. Leal, Angela J. Espejo, C. Alméciga-Díaz
{"title":"CRISPR/Cas9-based gene therapy for Tay-Sachs disease: Evaluation of non-viral vectors","authors":"Jacky M. Guerrero, A. Leal, Angela J. Espejo, C. Alméciga-Díaz","doi":"10.1016/j.ymgme.2023.107864","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107864","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"56 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687519","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.2023.107869
Punita Gupta, L. King, Priya S Kishnani
{"title":"Clinical status update for prenatally diagnosed CRIM negative IOPD Patient","authors":"Punita Gupta, L. King, Priya S Kishnani","doi":"10.1016/j.ymgme.2023.107869","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107869","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"26 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139685151","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.2023.107891
Sarah Hurt, S. Le, Shih-hsin Kan, Michael Brodt, Patricia I. Dickson
{"title":"Anti-IDUA IgG alters cortical bone structure of mucopolysaccaridosis type I mice treated with intravenous enzyme replacement therapy","authors":"Sarah Hurt, S. Le, Shih-hsin Kan, Michael Brodt, Patricia I. Dickson","doi":"10.1016/j.ymgme.2023.107891","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107891","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"64 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139686667","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.2023.108069
Hua Wang, Andrea M. Wierenga, Klaas Wierenga
{"title":"Unveiling a novel disease entity of lysosomal disorder family MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes: A case series review","authors":"Hua Wang, Andrea M. Wierenga, Klaas Wierenga","doi":"10.1016/j.ymgme.2023.108069","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108069","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"50 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139686918","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.2023.108034
Angela Schulz, Emily C. de los Reyes, Nicola Specchio, Paul Gissen, P. Slasor, Shailesh Bondade, Jessica L. Cohen Pfeffer
{"title":"Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children under 3 years of age","authors":"Angela Schulz, Emily C. de los Reyes, Nicola Specchio, Paul Gissen, P. Slasor, Shailesh Bondade, Jessica L. Cohen Pfeffer","doi":"10.1016/j.ymgme.2023.108034","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108034","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"49 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139686926","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.2023.108088
Teresa Hoi-Yee Wu, Heather Brown, H. Church, Rebekah Hutton, Dipak Ram, Christopher Kershaw, C. Chanson, Michael J. Henderson, Brian Bigger, Simon Jones
{"title":"A UK-based pre-pilot newborn screening study for metachromatic leukodytrosphy identified a late infantile case","authors":"Teresa Hoi-Yee Wu, Heather Brown, H. Church, Rebekah Hutton, Dipak Ram, Christopher Kershaw, C. Chanson, Michael J. Henderson, Brian Bigger, Simon Jones","doi":"10.1016/j.ymgme.2023.108088","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108088","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"4 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687028","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.2023.107875
Caroline A. Hastings, O. Goker-Alpan, L. Pena, Jordi Gascon Bayarri, Elena Martin-Hernandez, Reena Sharma, Orna Staretz Chacham, Ronen Spiegel, Eugen Mengel, Mark Walterfang, Heidi Peters, Victor S. Fung, Beata Kiec-Wilk, Nicholas Smith, Roberto Giugliani, N. Guelbert, Fatih Ezgu, S. K. Uçar, Bryan J. Murray, Andreas F. Brecht, Joseph Mejia
{"title":"Transport®NPC: open phase 3 global trial of intravenous hydroxy-propyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1)","authors":"Caroline A. Hastings, O. Goker-Alpan, L. Pena, Jordi Gascon Bayarri, Elena Martin-Hernandez, Reena Sharma, Orna Staretz Chacham, Ronen Spiegel, Eugen Mengel, Mark Walterfang, Heidi Peters, Victor S. Fung, Beata Kiec-Wilk, Nicholas Smith, Roberto Giugliani, N. Guelbert, Fatih Ezgu, S. K. Uçar, Bryan J. Murray, Andreas F. Brecht, Joseph Mejia","doi":"10.1016/j.ymgme.2023.107875","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107875","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"56 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687686","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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：