Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107915
J. Kenth, Colin Butler, Richard Hewitt, Simon Jones, Elizabeth Maughan
{"title":"Novel instruments for evaluating postoperative outcomes in MPS IVA patients: A confluence of AI for thematic quality of life analysis and Bayesian respiratory function assessment","authors":"J. Kenth, Colin Butler, Richard Hewitt, Simon Jones, Elizabeth Maughan","doi":"10.1016/j.ymgme.2023.107915","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107915","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"25 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139825096","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.2023.108075
Melissa P. Wasserstein, F. Bonella, Roberto Giugliani, Robin Lachmann, Imre Noth, Maurizio Scarpa, Wim A. Wuyts, Mario Aguiar, Nicole Armstrong, Monica Kumar, Kenneth I Berger
{"title":"Olipudase alfa enzyme replacement therapy reverses interstitial lung disease in adults with acid sphingomyelinase deficiency: Long-term pulmonary outcomes of the ASCEND trial","authors":"Melissa P. Wasserstein, F. Bonella, Roberto Giugliani, Robin Lachmann, Imre Noth, Maurizio Scarpa, Wim A. Wuyts, Mario Aguiar, Nicole Armstrong, Monica Kumar, Kenneth I Berger","doi":"10.1016/j.ymgme.2023.108075","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108075","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"57 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139827170","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.2023.107886
Erin Huggins, E. Nading, Neelam A. Makhijani, Janet Blount, M. Holland, Laura E. Case, Priya S. Kishnani
{"title":"Experience with enzyme replacement therapy in children with late-onset Pompe disease diagnosed via newborn screening in the United States","authors":"Erin Huggins, E. Nading, Neelam A. Makhijani, Janet Blount, M. Holland, Laura E. Case, Priya S. Kishnani","doi":"10.1016/j.ymgme.2023.107886","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107886","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"133 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139827818","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.2023.107876
Andrew Hedman, Steven B. Ortmeier, Shou-nian Liu, Jennifer Srnak, Yicheng Zhao, Katherine White, Russell Gotshall, Lin Liu, Hung Do
{"title":"Optimized dual promoter AAV gene therapy for lysosomal β-glucocerebrosidase with high M6P content for treatment of neuronopathic Gaucher disease","authors":"Andrew Hedman, Steven B. Ortmeier, Shou-nian Liu, Jennifer Srnak, Yicheng Zhao, Katherine White, Russell Gotshall, Lin Liu, Hung Do","doi":"10.1016/j.ymgme.2023.107876","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107876","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"99 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139828494","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.2023.107967
David Moreno Martínez, Chenyi Wang, Derralynn Hughes
{"title":"Relationship of adhesion and chemotaxis to pathology in Fabry disease: Preliminary results of the analysis of classical monocytes from patients and a THP-1 model","authors":"David Moreno Martínez, Chenyi Wang, Derralynn Hughes","doi":"10.1016/j.ymgme.2023.107967","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107967","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"42 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139829313","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.2023.107892
Suleiman A. Igdoura, Magdalena M. Szewczyk
{"title":"A new method for the purification of bioviable NEU1 sialidase for enzyme replacement therapy for sialidosis","authors":"Suleiman A. Igdoura, Magdalena M. Szewczyk","doi":"10.1016/j.ymgme.2023.107892","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107892","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"181 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139829427","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.2023.107918
Priya S. Kishnani, Marguerite C. Weinert, James Davison, A. Brassier, Alexander Broomfield, Yin-Hsiu Chien, S. Hahn, D. Kronn, Satoko Kumada, François Labarthe, Hirotaka Ohki, K. Haack, O. Huynh-Ba, S. Sparks, S. Tammireddy, Tianyue Zhou, S. Prakalapakorn
{"title":"Using a novel measuring device to objectively evaluate the clinical benefit on ptosis in infantile-onset Pompe disease (IOPD): Results from 145 weeks' avalglucosidase alfa dosing in Mini-COMET participants previously treated with alglucosidase alfa","authors":"Priya S. Kishnani, Marguerite C. Weinert, James Davison, A. Brassier, Alexander Broomfield, Yin-Hsiu Chien, S. Hahn, D. Kronn, Satoko Kumada, François Labarthe, Hirotaka Ohki, K. Haack, O. Huynh-Ba, S. Sparks, S. Tammireddy, Tianyue Zhou, S. Prakalapakorn","doi":"10.1016/j.ymgme.2023.107918","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107918","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"1358 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139830964","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.2023.107977
Steven Nadler
{"title":"Nonclinical studies in non-human primates on ABX1100: A centyrin:Gys1 siRNA conjugate for the treatment of Pompe disease","authors":"Steven Nadler","doi":"10.1016/j.ymgme.2023.107977","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107977","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"279 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139832654","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.2023.107990
S. Ortolano, Beatriz San Millán Tejado, Jorge Julián Fernández-Martín, Alberto Jose Rivera Gallego, I. Viéitez, S. Teijeira
{"title":"Morphological hallmarks of classical Fabry disease: An ultrastructural study in a large Spanish family","authors":"S. Ortolano, Beatriz San Millán Tejado, Jorge Julián Fernández-Martín, Alberto Jose Rivera Gallego, I. Viéitez, S. Teijeira","doi":"10.1016/j.ymgme.2023.107990","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107990","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"191 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139833218","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.2023.107861
Kylie Gray, Michael DiGruccio, Jonathan Roberts, Vaughn Weaver, Riley Marcinczyk, Linda Lyons, Udayanga S Wanninayake, Shou-nian Liu, N. Brignol, Osman Sheikh, Clarissa Booth, Steven B. Ortmeier, Katherine White, Hung Do, Russell Gotshall
{"title":"M021 (rhGAA) has a unique glycosylation profile which enables more efficient glycogen reduction and may allow for alternative Pompe ERT dosing strategies","authors":"Kylie Gray, Michael DiGruccio, Jonathan Roberts, Vaughn Weaver, Riley Marcinczyk, Linda Lyons, Udayanga S Wanninayake, Shou-nian Liu, N. Brignol, Osman Sheikh, Clarissa Booth, Steven B. Ortmeier, Katherine White, Hung Do, Russell Gotshall","doi":"10.1016/j.ymgme.2023.107861","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107861","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"11 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139881848","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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