Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.108087
Kara Woolgar, Jasmine Knoll
{"title":"Utilization of intravenous methylprednisolone to reduce neutralizing agalsidase-beta antibodies in two male pediatric Fabry disease patients","authors":"Kara Woolgar, Jasmine Knoll","doi":"10.1016/j.ymgme.2023.108087","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108087","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"16 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139892181","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.2023.108091
Emily Yu, Francesco Gavazzi, Lars Schlotawa, Vivian Breitling, Rebecca C. Ahrens-Nicklas, L. Adang
{"title":"The impact of multiple sulfatase deficiency on children and families: A caregiver's perspective","authors":"Emily Yu, Francesco Gavazzi, Lars Schlotawa, Vivian Breitling, Rebecca C. Ahrens-Nicklas, L. Adang","doi":"10.1016/j.ymgme.2023.108091","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108091","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139877503","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.2023.108090
Sarah P. Young, B. Lianoglou, Akos Herzeg, Beltran Borges, Pranesh Chakraborty, Deeksha Bali, Juan M. Gonzalez, Emma Canepa, Priya S. Kishnani, Jennifer L. Cohen, P. Harmatz, T. Mackenzie
{"title":"Measurement of glycosaminoglycans in the amniotic fluid of fetuses with mucopolysaccharidoses treated in a phase I clinical trial by in utero enzyme replacement therapy","authors":"Sarah P. Young, B. Lianoglou, Akos Herzeg, Beltran Borges, Pranesh Chakraborty, Deeksha Bali, Juan M. Gonzalez, Emma Canepa, Priya S. Kishnani, Jennifer L. Cohen, P. Harmatz, T. Mackenzie","doi":"10.1016/j.ymgme.2023.108090","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108090","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"241 2-3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139877569","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.2023.108034
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.2023.107864
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.2023.107907
Ana Jovanovic, R. Chinnadurai, Karolina M. Stepien, Reena Sharma, Philip Kalra, Fahmida Mannan
{"title":"Evaluation of long-term renal outcomes in Fabry disease: A single centre analysis","authors":"Ana Jovanovic, R. Chinnadurai, Karolina M. Stepien, Reena Sharma, Philip Kalra, Fahmida Mannan","doi":"10.1016/j.ymgme.2023.107907","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107907","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"58 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687622","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：