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Long term follow up of bone mineral density in Egyptian Gaucher disease type 3 patients on enzyme replacement therapy 酶替代疗法对埃及戈谢病3型患者骨密度的长期随访
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108628
Magy Abdelwahab
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引用次数: 0
AAV9-based gene replacement therapy targeting the root cause for the treatment of MPS IIID in mice 基于aav9靶向根因的基因替代疗法治疗小鼠MPS IIID
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108631
Pratikshya Adhikari, Neil Sud, Tierra Bobo, Haiyan Fu
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引用次数: 0
Evaluation of potential drug development and therapeutic approaches for mucopolysaccharidosis type II II型粘多糖病潜在药物开发及治疗途径的评价
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108680
Chong Kun Cheon, Jin Hur, Soo Yong Lee
{"title":"Evaluation of potential drug development and therapeutic approaches for mucopolysaccharidosis type II","authors":"Chong Kun Cheon, Jin Hur, Soo Yong Lee","doi":"10.1016/j.ymgme.2024.108680","DOIUrl":"10.1016/j.ymgme.2024.108680","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108680"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173263","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
Neurodevelopmental benefits of early hematopoietic stem cell transplantation in mucopolysaccharidosis type II II型粘多糖病早期造血干细胞移植对神经发育的益处
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108688
John W. Collyer , Deepa Rajan , Michele Poe , Paul Szabolcs , Maria L. Escolar
{"title":"Neurodevelopmental benefits of early hematopoietic stem cell transplantation in mucopolysaccharidosis type II","authors":"John W. Collyer , Deepa Rajan , Michele Poe , Paul Szabolcs , Maria L. Escolar","doi":"10.1016/j.ymgme.2024.108688","DOIUrl":"10.1016/j.ymgme.2024.108688","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108688"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173268","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
Dissecting the role of oligodendroglial NFkB signaling in the pathogenesis of Krabbe disease 剖析少突胶质细胞NFkB信号在蟹黄病发病机制中的作用
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108716
Jacob Favret, Meghana Kushawa, Daesung Shin
{"title":"Dissecting the role of oligodendroglial NFkB signaling in the pathogenesis of Krabbe disease","authors":"Jacob Favret, Meghana Kushawa, Daesung Shin","doi":"10.1016/j.ymgme.2024.108716","DOIUrl":"10.1016/j.ymgme.2024.108716","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108716"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173720","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
Audit of patients screened for lysosomal disorders at the Royal Free London Hospital 对伦敦皇家自由医院溶酶体疾病筛查患者的审计
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108710
Hatim Y. Ebrahim , Uma Ramaswami , Derralynn A. Hughes
{"title":"Audit of patients screened for lysosomal disorders at the Royal Free London Hospital","authors":"Hatim Y. Ebrahim , Uma Ramaswami , Derralynn A. Hughes","doi":"10.1016/j.ymgme.2024.108710","DOIUrl":"10.1016/j.ymgme.2024.108710","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108710"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143174259","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
WORLDSymposium™ 2025 Introduction WORLDSymposium™2025简介。
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108625
{"title":"WORLDSymposium™ 2025 Introduction","authors":"","doi":"10.1016/j.ymgme.2024.108625","DOIUrl":"10.1016/j.ymgme.2024.108625","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108625"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075050","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 CAMPSIITE®参与者的听力学评估，这是一项针对神经性MPSII的研究性RGX-121的I/II/III期研究
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
Reduced incidence of stroke in patients with Fabry disease treated with agalsidase beta: A matched analysis from the Fabry Registry 用琼脂苷酶治疗法布里病患者卒中发生率降低：一项来自法布里注册中心的匹配分析
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 ⅱ型粘多糖病（Hunter综合征）患者躯体表现治疗和护理中未满足的需求：一项有针对性的文献综述
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
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