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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
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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
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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
WORLDSymposium™ 2025
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108624
{"title":"WORLDSymposium™ 2025","authors":"","doi":"10.1016/j.ymgme.2024.108624","DOIUrl":"10.1016/j.ymgme.2024.108624","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108624"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075072","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
Hematopoietic stem cell transplantation for lysosomal disorders: Unraveling the mechanisms for CNS repopulation
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108641
Jessica Arozqueta-Basurto, Edina Poletto, Luisa N. Pimentel Vera, Pasqualina Colella, Natalia Gomez-Ospina
{"title":"Hematopoietic stem cell transplantation for lysosomal disorders: Unraveling the mechanisms for CNS repopulation","authors":"Jessica Arozqueta-Basurto, Edina Poletto, Luisa N. Pimentel Vera, Pasqualina Colella, Natalia Gomez-Ospina","doi":"10.1016/j.ymgme.2024.108641","DOIUrl":"10.1016/j.ymgme.2024.108641","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108641"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130656","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
First comprehensive identification of urinary sphingomyelin species in Niemann-Pick disease patients using UHPLC-MS/MS
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108642
Imane Assiri , Miloud Hammoud , Samira Najeh , Es-Said Sabir , Karima Lafhal , Maroua Jakani , Abdelaati Berrachid , Sana El Foutat , Aicha Bourrahouat , Naima Fdil
{"title":"First comprehensive identification of urinary sphingomyelin species in Niemann-Pick disease patients using UHPLC-MS/MS","authors":"Imane Assiri , Miloud Hammoud , Samira Najeh , Es-Said Sabir , Karima Lafhal , Maroua Jakani , Abdelaati Berrachid , Sana El Foutat , Aicha Bourrahouat , Naima Fdil","doi":"10.1016/j.ymgme.2024.108642","DOIUrl":"10.1016/j.ymgme.2024.108642","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108642"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143131902","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 outcome of mucopolysaccharidosis type I (Hurler syndrome) patients after hematopoietic cell transplantation
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108707
Mireia Del Toro Riera, Maria Luz Uria Oficialdegui, Lucy D. Dougherty De Miguel, Andrea Olivares, Melissa Panesso, Ana Felipe Rucian, Maria Camprodon-Gomez, Cristina Diaz-de-Heredia
{"title":"Long-term outcome of mucopolysaccharidosis type I (Hurler syndrome) patients after hematopoietic cell transplantation","authors":"Mireia Del Toro Riera, Maria Luz Uria Oficialdegui, Lucy D. Dougherty De Miguel, Andrea Olivares, Melissa Panesso, Ana Felipe Rucian, Maria Camprodon-Gomez, Cristina Diaz-de-Heredia","doi":"10.1016/j.ymgme.2024.108707","DOIUrl":"10.1016/j.ymgme.2024.108707","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108707"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143132156","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 HSC gene therapy in mucopolysaccharidosis type IIIB mice corrects disease with no evidence of insertional mutagenesis despite high vector copy numbers
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108661
Brian Bigger , Stuart M. Ellison , Shaun R. Wood , Rebecca Holley
{"title":"Long-term HSC gene therapy in mucopolysaccharidosis type IIIB mice corrects disease with no evidence of insertional mutagenesis despite high vector copy numbers","authors":"Brian Bigger , Stuart M. Ellison , Shaun R. Wood , Rebecca Holley","doi":"10.1016/j.ymgme.2024.108661","DOIUrl":"10.1016/j.ymgme.2024.108661","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108661"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130210","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
Feasibility of newborn screening of triple H syndrome using dried urine spots analyzed by flow-injection mass spectrometry
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108643
Christiane Auray-Blais, Pamela Lavoie, Bruno Maranda
{"title":"Feasibility of newborn screening of triple H syndrome using dried urine spots analyzed by flow-injection mass spectrometry","authors":"Christiane Auray-Blais, Pamela Lavoie, Bruno Maranda","doi":"10.1016/j.ymgme.2024.108643","DOIUrl":"10.1016/j.ymgme.2024.108643","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108643"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143131903","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
Fabry disease biomarker evaluation during a five-year gene therapy clinical trial
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108644
Christiane Auray-Blais , Pamela Lavoie , Tristan Martineau , Tony Rupar , Dwayne L. Barber , Armand Keating , Ronan Foley , Aneal Khan , Michael L. West , Jeffrey A. Medin
{"title":"Fabry disease biomarker evaluation during a five-year gene therapy clinical trial","authors":"Christiane Auray-Blais , Pamela Lavoie , Tristan Martineau , Tony Rupar , Dwayne L. Barber , Armand Keating , Ronan Foley , Aneal Khan , Michael L. West , Jeffrey A. Medin","doi":"10.1016/j.ymgme.2024.108644","DOIUrl":"10.1016/j.ymgme.2024.108644","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108644"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143131904","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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