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.2023.107907
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}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107929
K. Lafhal, Es-said Sabir, M. Hammoud, S. Najeh, I. Assiri, Abdelaati Berrachid, Maroua Jakani, Aicha Bourrahouat, N. Fdil
{"title":"Clinical features of Wilson disease in Moroccan cohort","authors":"K. Lafhal, Es-said Sabir, M. Hammoud, S. Najeh, I. Assiri, Abdelaati Berrachid, Maroua Jakani, Aicha Bourrahouat, N. Fdil","doi":"10.1016/j.ymgme.2023.107929","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107929","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"64 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687847","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.2023.108062
A. van der Flier, R. Riley, L. Smith, S. Kinton, Shan Zhou, Elena Kistanova, Renee Bodinizzo, Lilu Guo, Colleen Maloney, Caroline Morel, Dinesh S. Bangari, K. Haack, K. George
{"title":"Anti-human-TfR-GAA efficiently clears CNS and muscle glycogen in a translatable hTfR-KI/Pompe disease mouse model","authors":"A. van der Flier, R. Riley, L. Smith, S. Kinton, Shan Zhou, Elena Kistanova, Renee Bodinizzo, Lilu Guo, Colleen Maloney, Caroline Morel, Dinesh S. Bangari, K. Haack, K. George","doi":"10.1016/j.ymgme.2023.108062","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108062","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"45 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687972","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.2023.107839
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.2023.107855
E. Gonzalez, Isabelle S. Viana, L. N. Pimentel-Vera, Giuseppe Á. Testa, Roberto Giugliani, Ursula Matte, G. Baldo
{"title":"Losartan treatment in mucopolysaccharidosis type I mice: Beneficial effects on aortic structure and pathways insights","authors":"E. Gonzalez, Isabelle S. Viana, L. N. Pimentel-Vera, Giuseppe Á. Testa, Roberto Giugliani, Ursula Matte, G. Baldo","doi":"10.1016/j.ymgme.2023.107855","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107855","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"53 19","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139813894","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}
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