Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107897
G. Iop, Larissa Faqueti, L. A. D. da Silva, Henrique B.L. Borges, Marina H. Lopes, E. Gonzalez, Angélica S. de Oliveira, Isabelle S. Viana, G. Baldo, Roberto Giugliani
{"title":"Biomarker distribution in tissues of MPS I mice: Measurement of disease-specific oligosaccharides by LC-MS/MS","authors":"G. Iop, Larissa Faqueti, L. A. D. da Silva, Henrique B.L. Borges, Marina H. Lopes, E. Gonzalez, Angélica S. de Oliveira, Isabelle S. Viana, G. Baldo, Roberto Giugliani","doi":"10.1016/j.ymgme.2023.107897","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107897","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"286 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139884076","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.2023.107995
A. Peek, Sarah Okun, Madeline Triolo, Suleiman A. Igdoura
{"title":"Nuclear localization of the NEU4 isoforms in human fibroblasts and HepG2 cell line","authors":"A. Peek, Sarah Okun, Madeline Triolo, Suleiman A. Igdoura","doi":"10.1016/j.ymgme.2023.107995","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107995","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"157 1-4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139877890","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":"26 1-2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139892823","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.2023.107867
Paul Guijt, Christine Serratrice, Beata Kiec-Wilk, Fernanda Torquati, Irena Žnidar, Michaela Dan
{"title":"Progress in the IGA/IWGGD project on home therapy for Gaucher disease","authors":"Paul Guijt, Christine Serratrice, Beata Kiec-Wilk, Fernanda Torquati, Irena Žnidar, Michaela Dan","doi":"10.1016/j.ymgme.2023.107867","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107867","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"1 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139684541","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.2023.108025
Armaan Saith, Mohsen Basiri, R. Yang, Pramod K. Mistry
{"title":"Eliglustat substrate reduction therapy in Gaucher disease patients with cardiac comorbidities","authors":"Armaan Saith, Mohsen Basiri, R. Yang, Pramod K. Mistry","doi":"10.1016/j.ymgme.2023.108025","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108025","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"1 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139684779","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.2023.107981
I. Nestrašil, Jitka Májovská, Alia Ahmed, Monica T Bondy, Jiří Klempíř, Helena Jahnová, Susanne A Schneider, Dana Horakova, Pavel Ješina, Manuela Vaneckova, David R. Nascene, C. Whitley, Jeanine R. Jarnes, Martin Magner, Petr Dusek
{"title":"Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease","authors":"I. Nestrašil, Jitka Májovská, Alia Ahmed, Monica T Bondy, Jiří Klempíř, Helena Jahnová, Susanne A Schneider, Dana Horakova, Pavel Ješina, Manuela Vaneckova, David R. Nascene, C. Whitley, Jeanine R. Jarnes, Martin Magner, Petr Dusek","doi":"10.1016/j.ymgme.2023.107981","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107981","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"101 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139684825","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.2023.108064
Bastien Vidal, Rosa Romano, Eniola Catton, Hangil Park, Varsha Padaki, Srinivas Kothakota, Moises Hernandez, S. Rajendiran, Grant Li, Ariel Pios, Kathleen Boyle
{"title":"Creation of a versatile therapeutic platform using autologous gene-engineered B cell protein factories to make durable therapies for patients with genetic diseases","authors":"Bastien Vidal, Rosa Romano, Eniola Catton, Hangil Park, Varsha Padaki, Srinivas Kothakota, Moises Hernandez, S. Rajendiran, Grant Li, Ariel Pios, Kathleen Boyle","doi":"10.1016/j.ymgme.2023.108064","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108064","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"53 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139686984","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.2023.108078
Michael L. West, Derralynn Hughes, G. Sunder-Plassmann, Ana Jovanovic, Eva Brand, Daniel G. Bichet, Antonio Pisani, Albina Nowak, Roser Torra, Aneal Khan, Olga Azevedo, Anna Lehman, A. Linhart, Jasmine Rutecki, J. Giuliano, E. Krusinska, Peter Nordbeck
{"title":"FollowME Fabry Pathfinders Registry: Renal effectiveness in a cohort of patients on migalastat treatment for at least three years","authors":"Michael L. West, Derralynn Hughes, G. Sunder-Plassmann, Ana Jovanovic, Eva Brand, Daniel G. Bichet, Antonio Pisani, Albina Nowak, Roser Torra, Aneal Khan, Olga Azevedo, Anna Lehman, A. Linhart, Jasmine Rutecki, J. Giuliano, E. Krusinska, Peter Nordbeck","doi":"10.1016/j.ymgme.2023.108078","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108078","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"18 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687071","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.2023.108076
Melissa P. Wasserstein, Monica Kumar, Nicole M. Armstrong, Sefika Uslu Cil, Arya Firoozan, Lisa Underhill, Robin Lachmann
{"title":"Impact of homozygous p.Arg610del genotype on disease burden and treatment response in adults with acid sphingomyelinase deficiency in the ASCEND trial of olipudase alfa","authors":"Melissa P. Wasserstein, Monica Kumar, Nicole M. Armstrong, Sefika Uslu Cil, Arya Firoozan, Lisa Underhill, Robin Lachmann","doi":"10.1016/j.ymgme.2023.108076","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108076","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"34 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687121","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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