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Effective coordination of family screening to facilitate early diagnosis of Fabry disease
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108682
Claudia L. Church Smith , Sarah J. Steeds , Natalie Tuzcuoglu , Christopher J. Wingrove , Laura A. Boyes , Katherine Aitchison , Claire Radford , Tarekegn Geberhiwot , Rick Steeds
{"title":"Effective coordination of family screening to facilitate early diagnosis of Fabry disease","authors":"Claudia L. Church Smith , Sarah J. Steeds , Natalie Tuzcuoglu , Christopher J. Wingrove , Laura A. Boyes , Katherine Aitchison , Claire Radford , Tarekegn Geberhiwot , Rick Steeds","doi":"10.1016/j.ymgme.2024.108682","DOIUrl":"10.1016/j.ymgme.2024.108682","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108682"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143127828","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
Phenotypic and genotypic expansion of mucopolysaccharidosis type II: A case with IDS c.817C > T variant detected through newborn screening
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108652
Eliane Beauregard-Lacroix, Madeline Steffensen, Caitlin Menello, Can Ficicioglu
{"title":"Phenotypic and genotypic expansion of mucopolysaccharidosis type II: A case with IDS c.817C > T variant detected through newborn screening","authors":"Eliane Beauregard-Lacroix, Madeline Steffensen, Caitlin Menello, Can Ficicioglu","doi":"10.1016/j.ymgme.2024.108652","DOIUrl":"10.1016/j.ymgme.2024.108652","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108652"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171890","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
Imaging flow cytometry (IFC) a novel tool for automated and standardized quantification of urine podocytes and their globotriaosylceramide (GL3) content in Fabry disease
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108646
Alireza Ayoubi, Frank Dastvan, Behzad Najafian
{"title":"Imaging flow cytometry (IFC) a novel tool for automated and standardized quantification of urine podocytes and their globotriaosylceramide (GL3) content in Fabry disease","authors":"Alireza Ayoubi, Frank Dastvan, Behzad Najafian","doi":"10.1016/j.ymgme.2024.108646","DOIUrl":"10.1016/j.ymgme.2024.108646","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108646"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171891","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
Long term follow up of bone mineral density in Egyptian Gaucher disease type 3 patients on enzyme replacement therapy
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
{"title":"Long term follow up of bone mineral density in Egyptian Gaucher disease type 3 patients on enzyme replacement therapy","authors":"Magy Abdelwahab","doi":"10.1016/j.ymgme.2024.108628","DOIUrl":"10.1016/j.ymgme.2024.108628","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108628"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172949","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
AAV9-based gene replacement therapy targeting the root cause for the treatment of MPS IIID in mice
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
{"title":"AAV9-based gene replacement therapy targeting the root cause for the treatment of MPS IIID in mice","authors":"Pratikshya Adhikari, Neil Sud, Tierra Bobo, Haiyan Fu","doi":"10.1016/j.ymgme.2024.108631","DOIUrl":"10.1016/j.ymgme.2024.108631","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108631"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172951","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
Evaluation of potential drug development and therapeutic approaches for mucopolysaccharidosis type II
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
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
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
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
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
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