{"title":"Investigating microglial heterogeneity in a mouse model of mucopolysaccharidosis type IIIB","authors":"Katia Alileche , Nissrine Ballout , Chloé Dias , Séverine Fruchon , Jérôme Ausseil , Stephanie Trudel","doi":"10.1016/j.ymgme.2025.109306","DOIUrl":"10.1016/j.ymgme.2025.109306","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109306"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385487","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}
Pub Date : 2026-02-01Epub Date: 2026-02-03DOI: 10.1016/j.ymgme.2025.109368
Gianna L. Cimarrusti-Jewhurst, Qi Gan, Patricia I. Dickson, Adriana Montano
{"title":"Characterization of ocular structural alterations in mucopolysaccharidoses mouse models by immunofluorescence","authors":"Gianna L. Cimarrusti-Jewhurst, Qi Gan, Patricia I. Dickson, Adriana Montano","doi":"10.1016/j.ymgme.2025.109368","DOIUrl":"10.1016/j.ymgme.2025.109368","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109368"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385755","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}
Pub Date : 2026-02-01Epub Date: 2026-02-03DOI: 10.1016/j.ymgme.2025.109355
Krista Casazza , Shaun Bolton , Toni Mathieson , Justin Hopkin
{"title":"Difference in disease progression across the lifespan- findings from the NPC patient survey","authors":"Krista Casazza , Shaun Bolton , Toni Mathieson , Justin Hopkin","doi":"10.1016/j.ymgme.2025.109355","DOIUrl":"10.1016/j.ymgme.2025.109355","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109355"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385830","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}
{"title":"Co-transplantation of hematopoietic stem cells and highly purified rapidly expanding clones (REC) of human mesenchymal stem cells rescued the bone pathology of MPS IVA mice","authors":"Betul Celik , Georgina N. Baya , Shaukat Khan , Shunji Tomatsu","doi":"10.1016/j.ymgme.2025.109360","DOIUrl":"10.1016/j.ymgme.2025.109360","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109360"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385905","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}
Pub Date : 2026-02-01Epub Date: 2026-02-03DOI: 10.1016/j.ymgme.2025.109388
Imke A.M. Ditters, Hidde H. Huidekoper, Michelle E. Kruijshaar, Ans T. van der Ploeg, Hannerieke M.P. van den Hout
{"title":"Home infusion with recombinant human α-glucosidase in classic infantile and other children with Pompe disease is safe: The Dutch experience over 20 years with enzyme replacement therapy","authors":"Imke A.M. Ditters, Hidde H. Huidekoper, Michelle E. Kruijshaar, Ans T. van der Ploeg, Hannerieke M.P. van den Hout","doi":"10.1016/j.ymgme.2025.109388","DOIUrl":"10.1016/j.ymgme.2025.109388","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109388"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147384198","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}
Pub Date : 2026-02-01Epub Date: 2026-02-03DOI: 10.1016/j.ymgme.2025.109376
Marco A. Curiati, Felippe R. Oliveira Previdi, Jessica G. Araujo Espolaor, Edna T. Sakata, Marcelo H. Yamamoto, Carmen Silvia Curiati Mendes, Ana Maria Martins
{"title":"Patient-reported outcomes in MPS I patients treating with lepunafusp alfa: 3 year experience","authors":"Marco A. Curiati, Felippe R. Oliveira Previdi, Jessica G. Araujo Espolaor, Edna T. Sakata, Marcelo H. Yamamoto, Carmen Silvia Curiati Mendes, Ana Maria Martins","doi":"10.1016/j.ymgme.2025.109376","DOIUrl":"10.1016/j.ymgme.2025.109376","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109376"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147384795","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}
Pub Date : 2026-02-01Epub Date: 2026-02-03DOI: 10.1016/j.ymgme.2025.109392
Aimee Donald , Maria De Castro Lopez , Sarah Bruce , Chern Tan , Toni Mathieson , Frances Platt , Simon Jones
{"title":"Inflammatory bowel disease in Niemann Pick disease type C: Observations & proposal for surveillance","authors":"Aimee Donald , Maria De Castro Lopez , Sarah Bruce , Chern Tan , Toni Mathieson , Frances Platt , Simon Jones","doi":"10.1016/j.ymgme.2025.109392","DOIUrl":"10.1016/j.ymgme.2025.109392","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109392"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385408","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}
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