Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.108052
Diego Suarez, Angela J. Espejo, C. Alméciga-Díaz
{"title":"GM2 gangliosidosis insights: Tay-Sachs models via CRISPR-Cas9","authors":"Diego Suarez, Angela J. Espejo, C. Alméciga-Díaz","doi":"10.1016/j.ymgme.2023.108052","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108052","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"53 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139685502","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.2023.107914
J. Kenth, Elizabeth Maughan, Colin Butler, Simon Jones, Richard Hewitt
{"title":"Novel approach for tracheal resection in Morquio syndrome type A with end-stage critical airway obstruction: A UK case series","authors":"J. Kenth, Elizabeth Maughan, Colin Butler, Simon Jones, Richard Hewitt","doi":"10.1016/j.ymgme.2023.107914","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107914","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"1 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687029","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.2023.107899
Shailly Jain
{"title":"Phenotypic findings related to the c.1139 + 1 G > A variant in four individuals with MPS IVA","authors":"Shailly Jain","doi":"10.1016/j.ymgme.2023.107899","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107899","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"70 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687310","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.2023.108013
Shyam Ramachandran, Jessica Hogestyn, S. Ayloo, Jae Ryu, Jeffery Ardinger, MiAngela Ramos, Lydia Blatnik, Shelley Nass, Martin Goulet, Christian Mueller, Antonio Gonzalez-Meneses
{"title":"Evaluation of a novel AAV capsid with widespread CNS and peripheral biodistribution in non-human primates","authors":"Shyam Ramachandran, Jessica Hogestyn, S. Ayloo, Jae Ryu, Jeffery Ardinger, MiAngela Ramos, Lydia Blatnik, Shelley Nass, Martin Goulet, Christian Mueller, Antonio Gonzalez-Meneses","doi":"10.1016/j.ymgme.2023.108013","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108013","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"62 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687883","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}
{"title":"Treatment-related benefit and satisfaction in patients with Fabry disease: Insight into patients' expectations and preferences from the SATIS-Fab study","authors":"Didier Lacombe, Agathe Masseau, Bertrand Dussol, Soumeya Bekri, Frédérique Dupuis-Siméon, Yann Fardini, Esther Noël","doi":"10.1016/j.ymgme.2023.107928","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107928","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"37 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139688049","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.2023.107971
T. Mozaffar, D. Bratkovic, B. Byrne, K. Claeys, Jordi Díaz-Manera, M. Dimachkie, Priya S. Kishnani, H. Kushlaf, Mark E. Roberts, Antonio Toscano, J. Castelli, F. Holdbrook, Sheela Sitaraman Das, Y. Wasfi, Benedikt Schoser
{"title":"Effect size analysis of cipaglucosidase alfa plus miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL","authors":"T. Mozaffar, D. Bratkovic, B. Byrne, K. Claeys, Jordi Díaz-Manera, M. Dimachkie, Priya S. Kishnani, H. Kushlaf, Mark E. Roberts, Antonio Toscano, J. Castelli, F. Holdbrook, Sheela Sitaraman Das, Y. Wasfi, Benedikt Schoser","doi":"10.1016/j.ymgme.2023.107971","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107971","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"14 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139881260","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.2023.107986
Wataru Oboshi, Misa Tanaka, A. Hirakiyama, Joo-Hyun Seo, Akira Ohtake, Kei Murayama, T. Okuyama
{"title":"Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses","authors":"Wataru Oboshi, Misa Tanaka, A. Hirakiyama, Joo-Hyun Seo, Akira Ohtake, Kei Murayama, T. Okuyama","doi":"10.1016/j.ymgme.2023.107986","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107986","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"21 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139883267","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.2023.107927
Robin Lachmann, Jaya Ganesh, Roberto Giugliani, Nathalie Guffon, Eugen Mengel, Maurizio Scarpa, Melissa P. Wasserstein, Mario Aguiar, Nicole Armstrong, B. Thurberg, Monica Kumar
{"title":"Improvements in liver and lipid outcomes continue in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years with olipudase alfa in long-term clinical trials","authors":"Robin Lachmann, Jaya Ganesh, Roberto Giugliani, Nathalie Guffon, Eugen Mengel, Maurizio Scarpa, Melissa P. Wasserstein, Mario Aguiar, Nicole Armstrong, B. Thurberg, Monica Kumar","doi":"10.1016/j.ymgme.2023.107927","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107927","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"148 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139886401","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.2023.107934
Chris W. Lee, Hui Peng, Aimee R. Herdt, Elizabeth A. Eckman
{"title":"Brain targeted AAV-GALC gene therapy reduces psychosine and extends lifespan in a mouse model of Krabbe disease","authors":"Chris W. Lee, Hui Peng, Aimee R. Herdt, Elizabeth A. Eckman","doi":"10.1016/j.ymgme.2023.107934","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107934","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"37 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139890258","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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