Pub Date : 2026-02-01Epub Date: 2026-02-03DOI: 10.1016/j.ymgme.2025.109332
Amy C. Berger, Isaac V. Cohen, Marisa Goo, Sarah Huntwork-Rodriguez, Shyeilla Dhuria, Matthew D. Troyer, Carole Ho, Danna Jennings
{"title":"A phase I, multi-center, open-label study design to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of DNL952 in adult participants with late-onset Pompe disease","authors":"Amy C. Berger, Isaac V. Cohen, Marisa Goo, Sarah Huntwork-Rodriguez, Shyeilla Dhuria, Matthew D. Troyer, Carole Ho, Danna Jennings","doi":"10.1016/j.ymgme.2025.109332","DOIUrl":"10.1016/j.ymgme.2025.109332","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109332"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385826","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.2025.109308
Gheona Altarescu
{"title":"Successful treatment of a Fabry patient with pegunigalsidase alfa after developing angioedema and anaphylactic shock on agalsidase alfa alpha and beta","authors":"Gheona Altarescu","doi":"10.1016/j.ymgme.2025.109308","DOIUrl":"10.1016/j.ymgme.2025.109308","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109308"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147384195","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.2025.109371
Tanya L. Collin-Histed , Daniel Lewi , Toni Mathieson , Bob Stevens , Terri L. Klein , Allan Muir , Justin Hopkin , Sandra Cowie , Hulya Apaydin , Jack Johnson , Mary Pavlou , Kimberly Angel , Brenna Bentley , Carolyn Paisley-Dew , Laurel Gregier , Aviva Rosenberg
{"title":"Global reach and equity in lysosomal diseases: The role of the Global Lysosomal Storage Disease Collaborative in access, research, and regulation","authors":"Tanya L. Collin-Histed , Daniel Lewi , Toni Mathieson , Bob Stevens , Terri L. Klein , Allan Muir , Justin Hopkin , Sandra Cowie , Hulya Apaydin , Jack Johnson , Mary Pavlou , Kimberly Angel , Brenna Bentley , Carolyn Paisley-Dew , Laurel Gregier , Aviva Rosenberg","doi":"10.1016/j.ymgme.2025.109371","DOIUrl":"10.1016/j.ymgme.2025.109371","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109371"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385074","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.2025.109385
Jordi Diaz-Manera , Domenico Iannucci , James Clark , Cristina Domínguez-González
{"title":"Evaluating Glc4 as a longitudinal marker of functional decline in late-onset Pompe disease","authors":"Jordi Diaz-Manera , Domenico Iannucci , James Clark , Cristina Domínguez-González","doi":"10.1016/j.ymgme.2025.109385","DOIUrl":"10.1016/j.ymgme.2025.109385","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109385"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385489","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.2025.109382
Jordi Diaz-Manera
{"title":"The Spanish Pompe Registry: Real-world insights into clinical characteristics and therapeutic transitions in late onset Pompe disease","authors":"Jordi Diaz-Manera","doi":"10.1016/j.ymgme.2025.109382","DOIUrl":"10.1016/j.ymgme.2025.109382","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109382"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385577","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.2025.109324
Tomas E. Baldwin , Claire A. Leckey , Jenny Hallqvist , Holly M. Fratter , Mario Buono , Rose Sheridan , Kevin Mills , Wendy E. Heywood
{"title":"Development of an ultra-sensitive LC-MS/MS method for lyso-Gb1 and Gb1 quantitation in mouse CSF: Enabling pre-clinical and clinical applications for monitoring Gaucher and Parkinson disease","authors":"Tomas E. Baldwin , Claire A. Leckey , Jenny Hallqvist , Holly M. Fratter , Mario Buono , Rose Sheridan , Kevin Mills , Wendy E. Heywood","doi":"10.1016/j.ymgme.2025.109324","DOIUrl":"10.1016/j.ymgme.2025.109324","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109324"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385590","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.2025.109328
Miguel Barajas , William Moser
{"title":"Integrating genomics and phenotypes: Early insights into GLA and GAA variants in the All of Us Research Program","authors":"Miguel Barajas , William Moser","doi":"10.1016/j.ymgme.2025.109328","DOIUrl":"10.1016/j.ymgme.2025.109328","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109328"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385594","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.2025.109347
Elizabeth Braunlin , Derek M. Korpela , James M. Berry , Lalitha Belur , Jordan K. Roberts , Rebecca Manley , Davis Seelig , Michael Evans , Kerry Goldin , Chester B. Whitley , Bradley Miller , Adriana Montano , Jarryd M. Campbell , R. Scott McIvor
{"title":"Creation and characterization of a large animal model of MPS IVA","authors":"Elizabeth Braunlin , Derek M. Korpela , James M. Berry , Lalitha Belur , Jordan K. Roberts , Rebecca Manley , Davis Seelig , Michael Evans , Kerry Goldin , Chester B. Whitley , Bradley Miller , Adriana Montano , Jarryd M. Campbell , R. Scott McIvor","doi":"10.1016/j.ymgme.2025.109347","DOIUrl":"10.1016/j.ymgme.2025.109347","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109347"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385674","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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