Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107999
Antonio Pisani, Kathryn Wilson, Julie Batista, I. Kantola, A. O. Arduan, J. Politei, Laila Al-Shaar, M. Maski, Ana Crespo, Elvira Ponce, A. Linhart
{"title":"Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis","authors":"Antonio Pisani, Kathryn Wilson, Julie Batista, I. Kantola, A. O. Arduan, J. Politei, Laila Al-Shaar, M. Maski, Ana Crespo, Elvira Ponce, A. Linhart","doi":"10.1016/j.ymgme.2023.107999","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107999","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"13 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139813627","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.2023.108056
Beena Thomas, Maryam Banikazemi
{"title":"Severe form of Niemann-Pick disease type B in Iranian population: A review of the spectrum of disease in acid sphingomyelinase deficiency","authors":"Beena Thomas, Maryam Banikazemi","doi":"10.1016/j.ymgme.2023.108056","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108056","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"6 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139814618","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.2023.107944
N. Lyn, Sarah Ba, Christina A. Graham, France Sowell, Emily Ruzich, R. Krupnick, Ruth Pulikottil-Jacob
{"title":"Measuring the intangible cost of lysosomal disorders: Fabry disease, Gaucher disease type 3, and GM2 gangliosidosis","authors":"N. Lyn, Sarah Ba, Christina A. Graham, France Sowell, Emily Ruzich, R. Krupnick, Ruth Pulikottil-Jacob","doi":"10.1016/j.ymgme.2023.107944","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107944","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"30 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139816640","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.2023.108038
I. Gonzalo, L. L. de Frutos, Ralf Köhler, Pilar Giraldo
{"title":"Bone involvement in Gaucher disease: Can miRNAs determine or predict the severity degree?","authors":"I. Gonzalo, L. L. de Frutos, Ralf Köhler, Pilar Giraldo","doi":"10.1016/j.ymgme.2023.108038","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108038","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"124 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139816951","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.2023.108011
Deepa S Rajan, Hoda Abdel-Hamid, Maria L. Beltran-Quintero, Shilpa Haldal, M. Poe, M. Escolar
{"title":"Nerve conduction velocity studies in infantile Krabbe disease demonstrate long term continued progression of peripheral demyelinating neuropathy after hematopoietic stem cell transplantation (HSCT)","authors":"Deepa S Rajan, Hoda Abdel-Hamid, Maria L. Beltran-Quintero, Shilpa Haldal, M. Poe, M. Escolar","doi":"10.1016/j.ymgme.2023.108011","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108011","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"7 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139820191","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.2023.108044
Y. Shiro, Tetsuo Yamazaki
{"title":"CTSD integrity in the endoplasmic reticulum is required for CLN6's anti-aggregate activity","authors":"Y. Shiro, Tetsuo Yamazaki","doi":"10.1016/j.ymgme.2023.108044","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108044","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"139 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139821007","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.2023.107954
Shababa T. Masoud, Hoang Nguyen, Claire Discenza, David Joy, Jeffrey Simms, Iris Lo, You Young Chun, Julia Holtzman, Khishigjaw Tsogtbaatar, Amy Wing-Sze Leung, Isabel Becerra, Elliot Thomsen, Audrey Gill, Yashas Rajendra, Alexander Seay, Mohammad Jafarnejad, Anna I. Bakardjiev, M. E. Calvert, Cathal S. Mahon, Robert Thorne, Steven Chessler, Kirk Henne, Pascal Sanchez, A. Arguello
{"title":"ETV:SGSH, a brain-penetrant enzyme transport vehicle for SGSH, improves lysosomal and microglial morphology, degeneration and cognitive behavior in MPS IIIA mice","authors":"Shababa T. Masoud, Hoang Nguyen, Claire Discenza, David Joy, Jeffrey Simms, Iris Lo, You Young Chun, Julia Holtzman, Khishigjaw Tsogtbaatar, Amy Wing-Sze Leung, Isabel Becerra, Elliot Thomsen, Audrey Gill, Yashas Rajendra, Alexander Seay, Mohammad Jafarnejad, Anna I. Bakardjiev, M. E. Calvert, Cathal S. Mahon, Robert Thorne, Steven Chessler, Kirk Henne, Pascal Sanchez, A. Arguello","doi":"10.1016/j.ymgme.2023.107954","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107954","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"25 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139822386","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.2023.107963
Kathleen Meyer, Florence Lorget, Gregg Prawdzik, Marina Falaleeva, L. Cao, L. Falese, Marshall W. Huston, Khaled Hettini, Yanmei Lu, Annemarie Ledeboer
{"title":"A 3-month gene therapy single-dose IV administration pharmacology and safety study with ST-920 (isaralgagene civaparvovec) for Fabry disease in mice","authors":"Kathleen Meyer, Florence Lorget, Gregg Prawdzik, Marina Falaleeva, L. Cao, L. Falese, Marshall W. Huston, Khaled Hettini, Yanmei Lu, Annemarie Ledeboer","doi":"10.1016/j.ymgme.2023.107963","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107963","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"203 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139823762","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.2023.108036
Annalisa Sechi, Fabiana Colucci, Andrea Dardis, E. Pavan, Maurizio Scarpa, Valeria Tugnoli
{"title":"Efficacy of miglustat treatment in a patient with associated action myoclonus renal failure syndrome","authors":"Annalisa Sechi, Fabiana Colucci, Andrea Dardis, E. Pavan, Maurizio Scarpa, Valeria Tugnoli","doi":"10.1016/j.ymgme.2023.108036","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108036","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"386 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139826764","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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