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Improved outcomes in infantile-onset Pompe disease through early enzyme replacement therapy enabled by newborn screening: Insights from a multisite US cohort 通过新生儿筛查实现早期酶替代疗法改善婴儿起病庞贝病的预后：来自美国多地点队列的见解
IF 3.5 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
Molecular genetics and metabolism
Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1016/j.ymgme.2025.109381
Ankit K. Desai , Eleanor Rodriguez-Rassi , Suhag Parikh , Rossana Sanchez Russo , J. Austin Hamm , Irene Chang , Damara Ortiz , Molly McPheron , Holly Lydigsen , Stephanie DeArmey , Sarah Young , Priya Kishnani
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引用次数: 0
Modeling CLN6 Batten disease using rapidly differentiated IPSC neurons 利用快速分化的IPSC神经元模拟CLN6巴顿病
IF 3.5 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
Molecular genetics and metabolism
Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1016/j.ymgme.2025.109367
Eric C.-F. Choy, Maria Otero, Jaemin Kim, Derek J. Chan, Molly Easter, Wylie Dahlgren, Mahi Patel, Tyler M. Pierson
{"title":"Modeling CLN6 Batten disease using rapidly differentiated IPSC neurons","authors":"Eric C.-F. Choy, Maria Otero, Jaemin Kim, Derek J. Chan, Molly Easter, Wylie Dahlgren, Mahi Patel, Tyler M. Pierson","doi":"10.1016/j.ymgme.2025.109367","DOIUrl":"10.1016/j.ymgme.2025.109367","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109367"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385754","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
Patient journey and burden of type 3 Gaucher disease in France: A retrospective chart review study 法国3型戈谢病的患者旅程和负担：一项回顾性图表回顾研究
IF 3.5 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
Molecular genetics and metabolism
Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1016/j.ymgme.2025.109389
Laurence Djatche , Yann Nadjar , Laurence Watier , Leila Alaoui Sosse , Camille Berenguier , Jagan Palli , Patricia Viard , Maria G. Perichon , Ruth Pulikottil-Jacob , Samia Pichard
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引用次数: 0
The neuroimaging phenotype of neuronopathic Gaucher disease: Evidence of vascular and inflammatory components of neuronopathic disease? 神经性戈谢病的神经影像学表型：神经性疾病的血管和炎症成分的证据？
IF 3.5 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
Molecular genetics and metabolism
Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1016/j.ymgme.2025.109390
Aimee Donald , Alexander Broomfield , Derralynn Hughes , Tim Cox , Simon Jones
{"title":"The neuroimaging phenotype of neuronopathic Gaucher disease: Evidence of vascular and inflammatory components of neuronopathic disease?","authors":"Aimee Donald , Alexander Broomfield , Derralynn Hughes , Tim Cox , Simon Jones","doi":"10.1016/j.ymgme.2025.109390","DOIUrl":"10.1016/j.ymgme.2025.109390","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109390"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147384200","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
Multi-omic analysis of iPSC-derived GBA1-associated Parkinson disease microglia ipsc衍生的gba1相关帕金森病小胶质细胞的多组学分析
IF 3.5 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
Molecular genetics and metabolism
Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1016/j.ymgme.2025.109379
Supta Das, Yu Chen, Ellen Sidransky
{"title":"Multi-omic analysis of iPSC-derived GBA1-associated Parkinson disease microglia","authors":"Supta Das, Yu Chen, Ellen Sidransky","doi":"10.1016/j.ymgme.2025.109379","DOIUrl":"10.1016/j.ymgme.2025.109379","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109379"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147384712","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
Engineering low immunogenic enzyme replacement therapies for Fabry disease 法布里病的工程低免疫原性酶替代疗法
IF 3.5 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
Molecular genetics and metabolism
Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1016/j.ymgme.2025.109387
Matthias Dierick, Evgenii Lobzaev, Eve V. Miller-Hodges, Susan Rosser, Giovanni Stracquadanio
{"title":"Engineering low immunogenic enzyme replacement therapies for Fabry disease","authors":"Matthias Dierick, Evgenii Lobzaev, Eve V. Miller-Hodges, Susan Rosser, Giovanni Stracquadanio","doi":"10.1016/j.ymgme.2025.109387","DOIUrl":"10.1016/j.ymgme.2025.109387","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109387"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385491","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
Talk the talk: Using parent feedback and technology to improve result communication 说话：利用父母的反馈和技术来改善结果沟通
IF 3.5 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
Molecular genetics and metabolism
Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1016/j.ymgme.2025.109346
Natasha Bonhomme
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引用次数: 0
Improvements in quality of life outcomes among individuals with MPS IVA treated with elosulfase alfa: Results from the Morquio A Registry Study (MARS) elosulase α治疗MPS IVA患者的生活质量改善：来自Morquio A注册研究（MARS）的结果
IF 3.5 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
Molecular genetics and metabolism
Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1016/j.ymgme.2025.109352
Philippe M. Campeau , Barbara K. Burton , Carolyn Ellaway , Nathalie Guffon , Derralynn Hughes , Abigail Hunt , Alice Lail , Hsiang-Yu Lin , Shuan Pei Lin , Martin Magner , John J. Mitchell , Pascal Reisewitz , Karolina M. Stepien
{"title":"Improvements in quality of life outcomes among individuals with MPS IVA treated with elosulfase alfa: Results from the Morquio A Registry Study (MARS)","authors":"Philippe M. Campeau , Barbara K. Burton , Carolyn Ellaway , Nathalie Guffon , Derralynn Hughes , Abigail Hunt , Alice Lail , Hsiang-Yu Lin , Shuan Pei Lin , Martin Magner , John J. Mitchell , Pascal Reisewitz , Karolina M. Stepien","doi":"10.1016/j.ymgme.2025.109352","DOIUrl":"10.1016/j.ymgme.2025.109352","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109352"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385636","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
Metabolomic profiling of rosa damascena mill. Hydroethanolic extracts reveals complex chelating signatures relevant to copper overload disorders 大马士革玫瑰的代谢组学分析。氢乙醇提取物揭示了与铜过载紊乱相关的复杂螯合特征
IF 3.5 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
Molecular genetics and metabolism
Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1016/j.ymgme.2025.109337
Abdelaati Berrachid , Jean-Pierre Mbakidi , Karima Lafhal , Miloud Hammoud , Maroua Jakani , Samira Najeh , Imane Assiri , Sana El Foutat , My Ahmed El Amiri , Sandrine Bouquillon , Naima FDIL
{"title":"Metabolomic profiling of rosa damascena mill. Hydroethanolic extracts reveals complex chelating signatures relevant to copper overload disorders","authors":"Abdelaati Berrachid , Jean-Pierre Mbakidi , Karima Lafhal , Miloud Hammoud , Maroua Jakani , Samira Najeh , Imane Assiri , Sana El Foutat , My Ahmed El Amiri , Sandrine Bouquillon , Naima FDIL","doi":"10.1016/j.ymgme.2025.109337","DOIUrl":"10.1016/j.ymgme.2025.109337","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109337"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385751","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
Substantial survival benefit with adrabetadex treatment in individuals with infantile-onset Niemann-Pick disease type C (NPC) adrabetadex治疗婴儿期尼曼-皮克病（Niemann-Pick disease） C型（NPC）患者的生存率显著提高
IF 3.5 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM
Molecular genetics and metabolism
Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1016/j.ymgme.2025.109341
Elizabeth Berry-Kravis , Laurence H. Keller , Lixia Jiao , John P. Winnike , Alexander M. Gold , Jason Camm , Forbes D. Porter
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引用次数: 0
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