Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2024.108347
B. den Hollander, M. M. Brands, I. Nijhuis, Lous J A E Doude van Troostwijk, P. van Essen, G. H. Hofsteenge, Bart G. Koot, Annelieke R. Müller, Laura Tseng, E. Stroes, P. M. van de Ven, A. Wiegman, C. D. van Karnebeek
{"title":"Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen","authors":"B. den Hollander, M. M. Brands, I. Nijhuis, Lous J A E Doude van Troostwijk, P. van Essen, G. H. Hofsteenge, Bart G. Koot, Annelieke R. Müller, Laura Tseng, E. Stroes, P. M. van de Ven, A. Wiegman, C. D. van Karnebeek","doi":"10.1016/j.ymgme.2024.108347","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108347","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"107 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139872481","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.2023.107947
Irina Maksimova, Alexandra Dumitriu, Ana Crespo, Gandarvaka Miles, Andrea Ocampo, Queeny Ip, Michael Jordan, Natalia Petruski-Ivleva, Roberto Araujo
{"title":"Different monitoring patterns in treated and untreated patients with Fabry disease: Analysis of a United States claims database","authors":"Irina Maksimova, Alexandra Dumitriu, Ana Crespo, Gandarvaka Miles, Andrea Ocampo, Queeny Ip, Michael Jordan, Natalia Petruski-Ivleva, Roberto Araujo","doi":"10.1016/j.ymgme.2023.107947","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107947","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"15 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139872577","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.2023.107959
R. M. Quintela, Noemie Hurst, L. L. de Frutos, Aurelien Thiers, C. Luzy, R. M. Pipke
{"title":"Use of wearable sensor technology to identify digital biomarkers for monitoring gait parameters in children and adolescents with GM1 and GM2 gangliosidoses","authors":"R. M. Quintela, Noemie Hurst, L. L. de Frutos, Aurelien Thiers, C. Luzy, R. M. Pipke","doi":"10.1016/j.ymgme.2023.107959","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107959","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"61 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":"139874667","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.2023.107919
M. Kosuga, Tetsumin So, Hirotoshi Sakaguchi, Torayuki Okuyama
{"title":"Efficacy and safety of combination of HSCT & ICV ERT for neuropathic mucopolysaccharidosis type II","authors":"M. Kosuga, Tetsumin So, Hirotoshi Sakaguchi, Torayuki Okuyama","doi":"10.1016/j.ymgme.2023.107919","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107919","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"40 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139684013","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.2023.108004
Shaney Pressley, Caitlin Menello, L. Adang, Rebecca Ahrens-Nicklas
{"title":"Off-label use of agalsidase beta and immune tolerance induction: The challenges of treatment initiation in young Fabry disease patients","authors":"Shaney Pressley, Caitlin Menello, L. Adang, Rebecca Ahrens-Nicklas","doi":"10.1016/j.ymgme.2023.108004","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108004","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"18 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139685324","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.2023.107943
N. Lyn, P. Guyot, D. Thakker, Chae Sung Lee, M. Maski, A. Crespo, Ruth Pulikottil-Jacob
{"title":"Comparing treatment options for Fabry disease: Feasibility assessment for network meta-analysis (NMA)","authors":"N. Lyn, P. Guyot, D. Thakker, Chae Sung Lee, M. Maski, A. Crespo, Ruth Pulikottil-Jacob","doi":"10.1016/j.ymgme.2023.107943","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107943","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"52 13","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139685384","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.2023.108050
Karolina M. Stepien, Andrew Bentley, Safa Al-Saadi, Reena Sharma, Ana Jovanovic, Govind Tol, Stuart Watson, Janet G Gorton, C. Gadepalli
{"title":"Service evaluation of respiratory tract dysfunction in adult Morquio syndrome (MPS IVA): A single tertiary multi-disciplinary centre experience","authors":"Karolina M. Stepien, Andrew Bentley, Safa Al-Saadi, Reena Sharma, Ana Jovanovic, Govind Tol, Stuart Watson, Janet G Gorton, C. Gadepalli","doi":"10.1016/j.ymgme.2023.108050","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108050","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"24 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139686517","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.2023.107868
Paul Guijt, Irena Žnidar, M. Abdelwahab
{"title":"Guidelines on self-management of Gaucher disease","authors":"Paul Guijt, Irena Žnidar, M. Abdelwahab","doi":"10.1016/j.ymgme.2023.107868","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107868","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"17 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139882013","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.2023.108014
Suraj Ramchand, Duncan Cole, Avraj Virdi, Matthew Ploszajski, Xianghua Xie
{"title":"Using machine learning to distinguish Fabry disease from hypertrophic cardiomyopathy with ECG and ECHO data","authors":"Suraj Ramchand, Duncan Cole, Avraj Virdi, Matthew Ploszajski, Xianghua Xie","doi":"10.1016/j.ymgme.2023.108014","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108014","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"33 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139887334","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":"143 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139887983","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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：