Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107863
Giuseppina Grillo, Simona D'Amore, M. McKie, David Bleloch, Michael Hughes, U. Ramaswami
{"title":"Fabry App: The value of a portable technology in recording patient monitored information in patients with Fabry disease","authors":"Giuseppina Grillo, Simona D'Amore, M. McKie, David Bleloch, Michael Hughes, U. Ramaswami","doi":"10.1016/j.ymgme.2023.107863","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107863","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"2 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139820081","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.2023.107991
Katrina Paleologos, Nicole R Kelly, Megan J. Clarke, Melissa P. Wasserstein
{"title":"A parent's journey to consent: An analysis of the number and mode of attempts used to gain consent from the first 11,000 ScreenPlus participants","authors":"Katrina Paleologos, Nicole R Kelly, Megan J. Clarke, Melissa P. Wasserstein","doi":"10.1016/j.ymgme.2023.107991","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107991","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"39 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139828165","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.2023.108035
Ida Vanessa D. Schwartz, Eliana M. Martínez Bazán, D. Randon, Isabela A. Fink, Fernando S. Azambuja, Arthur M. Alberti
{"title":"Metab-Latam: Sharing scientific knowledge about lysosomal disorders in Latin America","authors":"Ida Vanessa D. Schwartz, Eliana M. Martínez Bazán, D. Randon, Isabela A. Fink, Fernando S. Azambuja, Arthur M. Alberti","doi":"10.1016/j.ymgme.2023.108035","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108035","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"244 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139830861","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.2023.107956
Dietrich Matern, Kristina Cusmano-Ozog, Sarah Young, Nicola Longo
{"title":"Urine glycosaminoglycans: Data from the CAP/ACMG proficiency testing program","authors":"Dietrich Matern, Kristina Cusmano-Ozog, Sarah Young, Nicola Longo","doi":"10.1016/j.ymgme.2023.107956","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107956","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"799 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139831417","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.2023.107964
John J. Mitchell, M. Inbar‐Feigenberg, Kim Angel, Pranesh Chakraborty, M. Lamoureux, John Adams, Beth K. Potter, Sylvia Stockler-Ipsirolgu, Alison H. Howie, Alex Pace, Nancy J. Butcher, Cheryl R. Greenberg, Robin Hayeems, A. Laberge, Jeff Round, Martin Offringa, Maryam Oskoui, Chelsea Ruth, Andreas Schulze, Kathy Speechley, K. Thavorn, Y. Trakadis, Kumanan Wilson, Thierry Lacaze
{"title":"Co-developing The Canadian MPS Registry: A longitudinal rare disease patient registry","authors":"John J. Mitchell, M. Inbar‐Feigenberg, Kim Angel, Pranesh Chakraborty, M. Lamoureux, John Adams, Beth K. Potter, Sylvia Stockler-Ipsirolgu, Alison H. Howie, Alex Pace, Nancy J. Butcher, Cheryl R. Greenberg, Robin Hayeems, A. Laberge, Jeff Round, Martin Offringa, Maryam Oskoui, Chelsea Ruth, Andreas Schulze, Kathy Speechley, K. Thavorn, Y. Trakadis, Kumanan Wilson, Thierry Lacaze","doi":"10.1016/j.ymgme.2023.107964","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107964","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"277 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139831755","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.2023.107951
Rosa Manzoli, Lorenzo Badenetti, Enrico Moro
{"title":"Molecular insights of axon guidance abnormalities in a mucopolysaccharidosis type II zebrafish model","authors":"Rosa Manzoli, Lorenzo Badenetti, Enrico Moro","doi":"10.1016/j.ymgme.2023.107951","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107951","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"128 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139832506","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":"122 3-4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139879870","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.2023.107915
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":"11 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139884983","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.2024.108346
Isabella Peixoto de Barcelos, Sarah Woidill, Francesco Gavazzi, Nicholson Modesti, Anjana Sevagamoorthy, Adeline L. Vanderver, L. Adang
{"title":"Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)","authors":"Isabella Peixoto de Barcelos, Sarah Woidill, Francesco Gavazzi, Nicholson Modesti, Anjana Sevagamoorthy, Adeline L. Vanderver, L. Adang","doi":"10.1016/j.ymgme.2024.108346","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108346","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"40 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139891154","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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