发布求助
文献互助 智能选刊 最新文献

Molecular Genetics and Metabolism最新文献

筛选
英文 中文
GM2 gangliosidosis insights: Tay-Sachs models via CRISPR-Cas9 对 GM2 神经节苷脂病的认识：通过 CRISPR-Cas9 建立 Tay-Sachs 模型
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 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}
引用次数: 0
A long-term observation of ophthalmology assessment in atypical CLN2 patients receiving ICV cerliponase alfa treatment 对接受 ICV 塞利肽酶 alfa 治疗的非典型 CLN2 患者进行眼科评估的长期观察
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107910
Audrey Kao, Harriet Chang, Rahul Bhola, Raymond Y. Wang
{"title":"A long-term observation of ophthalmology assessment in atypical CLN2 patients receiving ICV cerliponase alfa treatment","authors":"Audrey Kao, Harriet Chang, Rahul Bhola, Raymond Y. Wang","doi":"10.1016/j.ymgme.2023.107910","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107910","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"44 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139686345","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}
引用次数: 0
Novel approach for tracheal resection in Morquio syndrome type A with end-stage critical airway obstruction: A UK case series A 型 Morquio 综合征终末期危重气道阻塞患者气管切除的新方法：英国病例系列
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 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}
引用次数: 0
Phenotypic findings related to the c.1139 + 1 G > A variant in four individuals with MPS IVA 四名 MPS IVA 患者与 c.1139 + 1 G > A 变异有关的表型发现
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 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}
引用次数: 0
Evaluation of a novel AAV capsid with widespread CNS and peripheral biodistribution in non-human primates 评估在非人灵长类动物中具有广泛中枢神经系统和外周生物分布的新型 AAV 胶囊
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 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}
引用次数: 0
Treatment-related benefit and satisfaction in patients with Fabry disease: Insight into patients' expectations and preferences from the SATIS-Fab study 法布里病患者与治疗相关的获益和满意度：从 SATIS-Fab 研究中了解患者的期望和偏好
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 10.1016/j.ymgme.2023.107928
Didier Lacombe, Agathe Masseau, Bertrand Dussol, Soumeya Bekri, Frédérique Dupuis-Siméon, Yann Fardini, Esther Noël
{"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}
引用次数: 0
Effect size analysis of cipaglucosidase alfa plus miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL 在 PROPEL 项目中，对有 ERT 经验的成人晚发型庞贝氏症患者进行西帕糖苷酶α加米格鲁司特与阿糖苷酶α的效应大小分析
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 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}
引用次数: 0
Quantitative determination of glycosaminoglycans in dried blood spots for second-tier screening of mucopolysaccharidoses 定量测定干血斑中的糖胺聚糖，用于粘多糖病的二级筛查
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 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}
引用次数: 0
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 在长期临床试验中，慢性酸性鞘磷脂酶缺乏症患儿和成人接受奥利司他α治疗2至6.5年后，肝脏和血脂状况继续得到改善
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 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}
引用次数: 0
Brain targeted AAV-GALC gene therapy reduces psychosine and extends lifespan in a mouse model of Krabbe disease 脑靶向 AAV-GALC 基因疗法可在克拉伯病小鼠模型中减少精神碱并延长寿命
Molecular Genetics and Metabolism Pub Date : 2024-02-01 DOI: 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}
引用次数: 0
下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：481959085
Book学术官方微信