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WORLDSymposium™ 2025 Program
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108626
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引用次数: 0
Exploratory survey study on adjunctive use of medical cannabis for Gaucher disease
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108712
Robin Ely , Yehoshua Berman , Yosef Y. Scher , Neal J. Weinreb
{"title":"Exploratory survey study on adjunctive use of medical cannabis for Gaucher disease","authors":"Robin Ely , Yehoshua Berman , Yosef Y. Scher , Neal J. Weinreb","doi":"10.1016/j.ymgme.2024.108712","DOIUrl":"10.1016/j.ymgme.2024.108712","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108712"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cell-based device provides effective therapeutic strategy to treat the metachromatic leukodystrophy
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108648
Elena Gaia Banchi , Rafael Alonso , Kevin Fransquin , Timothée de Saint Denis , Adrien Engel , Sylvie Jacquot , Antonin Lamaziere , Nicolas Mach , Julien Grogg , Caroline Sevin , Françoise Piguet
{"title":"Cell-based device provides effective therapeutic strategy to treat the metachromatic leukodystrophy","authors":"Elena Gaia Banchi , Rafael Alonso , Kevin Fransquin , Timothée de Saint Denis , Adrien Engel , Sylvie Jacquot , Antonin Lamaziere , Nicolas Mach , Julien Grogg , Caroline Sevin , Françoise Piguet","doi":"10.1016/j.ymgme.2024.108648","DOIUrl":"10.1016/j.ymgme.2024.108648","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108648"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Audiology assessment of participants in CAMPSIITE®, a phase I/II/III study of investigational RGX-121 in neuronopathic MPS II
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108662
Nidal Boulos , Patricia A. Roush , Dawn Phillips , Laura Pisani , Paulo Falabella
{"title":"Audiology assessment of participants in CAMPSIITE®, a phase I/II/III study of investigational RGX-121 in neuronopathic MPS II","authors":"Nidal Boulos , Patricia A. Roush , Dawn Phillips , Laura Pisani , Paulo Falabella","doi":"10.1016/j.ymgme.2024.108662","DOIUrl":"10.1016/j.ymgme.2024.108662","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108662"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Direct reprogramming of oligodendrocytes from globoid-cell leukodystrophy patient primary fibroblasts
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108632
Anusha Aditya, Gustavo Maegawa
{"title":"Direct reprogramming of oligodendrocytes from globoid-cell leukodystrophy patient primary fibroblasts","authors":"Anusha Aditya, Gustavo Maegawa","doi":"10.1016/j.ymgme.2024.108632","DOIUrl":"10.1016/j.ymgme.2024.108632","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108632"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Targeted therapeutic benefits of anakinra for sleep, gastrointestinal, and behavioral symptoms in Sanfilippo syndrome: A post hoc analysis in symptom-specific subgroups
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108629
Jonathan Acevedo , Cara O'Neill , Adolfo Morales , Michelina Iacovino , Agnes Chen , Julie B. Eisengart , Lynda E. Polgreen
{"title":"Targeted therapeutic benefits of anakinra for sleep, gastrointestinal, and behavioral symptoms in Sanfilippo syndrome: A post hoc analysis in symptom-specific subgroups","authors":"Jonathan Acevedo , Cara O'Neill , Adolfo Morales , Michelina Iacovino , Agnes Chen , Julie B. Eisengart , Lynda E. Polgreen","doi":"10.1016/j.ymgme.2024.108629","DOIUrl":"10.1016/j.ymgme.2024.108629","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108629"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Extending the interval between pegunigalsidase alfa infusions in patients with Fabry disease: Five-year interim results from the ongoing BRIGHT51 study
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108656
John A. Bernat , Myrl Holida , Stephen Waldek , William R. Wilcox , Nicola Longo , Ozlem Goker-Alpan , Eric Wallace , Patrick Deegan , Camilla Tøndel , Francois Eyskens , Ulla Feldt-Rasmussen , Derralynn Hughes , Antonio Pisani , Ankit Mehta , Khan Nedd , David G. Warnock , Giovanni Piotti , Meng Wang , Einat Almon-Brill , Sari Alon , Aleš Linhart
{"title":"Extending the interval between pegunigalsidase alfa infusions in patients with Fabry disease: Five-year interim results from the ongoing BRIGHT51 study","authors":"John A. Bernat , Myrl Holida , Stephen Waldek , William R. Wilcox , Nicola Longo , Ozlem Goker-Alpan , Eric Wallace , Patrick Deegan , Camilla Tøndel , Francois Eyskens , Ulla Feldt-Rasmussen , Derralynn Hughes , Antonio Pisani , Ankit Mehta , Khan Nedd , David G. Warnock , Giovanni Piotti , Meng Wang , Einat Almon-Brill , Sari Alon , Aleš Linhart","doi":"10.1016/j.ymgme.2024.108656","DOIUrl":"10.1016/j.ymgme.2024.108656","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108656"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reduced incidence of stroke in patients with Fabry disease treated with agalsidase beta: A matched analysis from the Fabry Registry
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108669
Alessandro Burlina , Laila Al-Shaar , Dominique P. Germain , Maryam Banikazemi , Elvira Ponce , Ana Crespo , Victoria Lawson , Juan Politei
{"title":"Reduced incidence of stroke in patients with Fabry disease treated with agalsidase beta: A matched analysis from the Fabry Registry","authors":"Alessandro Burlina , Laila Al-Shaar , Dominique P. Germain , Maryam Banikazemi , Elvira Ponce , Ana Crespo , Victoria Lawson , Juan Politei","doi":"10.1016/j.ymgme.2024.108669","DOIUrl":"10.1016/j.ymgme.2024.108669","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108669"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unmet needs in the treatment and care of somatic manifestations in people with mucopolysaccharidosis type II (Hunter syndrome): A targeted literature review
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108671
Barbara K. Burton , Daniel Fertek , Peter Chin , Carole Ho , Joseph Muenzer , Torayuki Okuyama , Simon A. Jones
{"title":"Unmet needs in the treatment and care of somatic manifestations in people with mucopolysaccharidosis type II (Hunter syndrome): A targeted literature review","authors":"Barbara K. Burton , Daniel Fertek , Peter Chin , Carole Ho , Joseph Muenzer , Torayuki Okuyama , Simon A. Jones","doi":"10.1016/j.ymgme.2024.108671","DOIUrl":"10.1016/j.ymgme.2024.108671","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108671"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lipid profiling in dried blood spots: A tool for diagnosing lysosomal diseases
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108639
Isidro Arevalo-Vargas , Irene Serrano Gonzalo , Sonia Roca-Esteve , Carlos Lahoz , Pilar Mozas , Pilar Giraldo , Maria Guimaraes Da Lomba Ferraz , Johannes Aerts
{"title":"Lipid profiling in dried blood spots: A tool for diagnosing lysosomal diseases","authors":"Isidro Arevalo-Vargas , Irene Serrano Gonzalo , Sonia Roca-Esteve , Carlos Lahoz , Pilar Mozas , Pilar Giraldo , Maria Guimaraes Da Lomba Ferraz , Johannes Aerts","doi":"10.1016/j.ymgme.2024.108639","DOIUrl":"10.1016/j.ymgme.2024.108639","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108639"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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