Pub Date : 2026-02-01Epub Date: 2026-02-03DOI: 10.1016/j.ymgme.2025.109339
Elizabeth Berry-Kravis , Nicolas Abreu , Walla Al-Hertani , Radhika Dhamija , Can Ficicioglu , Kristina Julich , Caroline A. Hastings , Paul Hillman , Nancy Leslie , Damara Ortiz , Melinda Peters , Paula Schleifer , Ronan J. O'Reilly , Blair Orr , Christine I. Dali
{"title":"Real-world safety and effectiveness of arimoclomol in patients with NPC: Outcomes from the US early access program (EAP) over a 4-year period","authors":"Elizabeth Berry-Kravis , Nicolas Abreu , Walla Al-Hertani , Radhika Dhamija , Can Ficicioglu , Kristina Julich , Caroline A. Hastings , Paul Hillman , Nancy Leslie , Damara Ortiz , Melinda Peters , Paula Schleifer , Ronan J. O'Reilly , Blair Orr , Christine I. Dali","doi":"10.1016/j.ymgme.2025.109339","DOIUrl":"10.1016/j.ymgme.2025.109339","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109339"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385761","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.2025.109361
Magdalena Ceron-Rodriguez
{"title":"MPS IV, Morquio disease: Treatment with elosulfase, vitamin d, and zoledronic acid. A strategy that impacts growth and bone health in patients","authors":"Magdalena Ceron-Rodriguez","doi":"10.1016/j.ymgme.2025.109361","DOIUrl":"10.1016/j.ymgme.2025.109361","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109361"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385906","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.2025.109319
Alireza Ayoubi , Jaya Ganesh , Chester B. Whitley , Jeanine R. Jarnes , Sirisak Chanprasert , Frank Dastvan , Behzad Najafian
{"title":"Urine podocyte (UPC) globotriaosylceramide volume [V(GL3/PC)] is a non-invasive biomarker of Fabry nephropathy and correlates with increased albuminuria and proteinuria and reduced GFR in patients with Fabry disease","authors":"Alireza Ayoubi , Jaya Ganesh , Chester B. Whitley , Jeanine R. Jarnes , Sirisak Chanprasert , Frank Dastvan , Behzad Najafian","doi":"10.1016/j.ymgme.2025.109319","DOIUrl":"10.1016/j.ymgme.2025.109319","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109319"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385925","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.2025.109353
Maria Camprodon-Gomez, Ana Felipe Rucian, Lucy D. Dougherty De Miguel, Ana Gabriela Lungo Peccorini, Clara Carnicer, José A. Arranz Amo, Àngel Valls Villalba, Meritxell Sariol, MireiaI Del Toro Riera
{"title":"From childhood to adulthood: A descriptive analysis of clinical features in patients with acid sphingomyelinase deficiency (ASMD)","authors":"Maria Camprodon-Gomez, Ana Felipe Rucian, Lucy D. Dougherty De Miguel, Ana Gabriela Lungo Peccorini, Clara Carnicer, José A. Arranz Amo, Àngel Valls Villalba, Meritxell Sariol, MireiaI Del Toro Riera","doi":"10.1016/j.ymgme.2025.109353","DOIUrl":"10.1016/j.ymgme.2025.109353","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109353"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385169","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.2025.109380
Patrick B. Deegan , Rand Dubis , Calum Grant , Laura Akroyd , Ben Leach , William Kerr , Vera Gielen , Robin Lachmann
{"title":"Delayed diagnosis and missed opportunities: Results from an analysis of the diagnostic journey for LOPD in the UK","authors":"Patrick B. Deegan , Rand Dubis , Calum Grant , Laura Akroyd , Ben Leach , William Kerr , Vera Gielen , Robin Lachmann","doi":"10.1016/j.ymgme.2025.109380","DOIUrl":"10.1016/j.ymgme.2025.109380","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109380"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147384648","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.2025.109313
Carolina S. Araujo, Carmen Silvia Curiati Mendes, Marco A. Curiati, Sandra O. Kyosen, Guilherme S. Battiston, Fernanda A. Romera, Maria Isabel Riesemberg, Andre L. Ferreira, Ana Maria Martins
{"title":"Real world data of patients with lysosomal acid lipase deficiency under enzyme replacement therapy experience from a reference center in São Paulo, Brazil","authors":"Carolina S. Araujo, Carmen Silvia Curiati Mendes, Marco A. Curiati, Sandra O. Kyosen, Guilherme S. Battiston, Fernanda A. Romera, Maria Isabel Riesemberg, Andre L. Ferreira, Ana Maria Martins","doi":"10.1016/j.ymgme.2025.109313","DOIUrl":"10.1016/j.ymgme.2025.109313","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109313"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385425","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":"Joint arthroplasty is an effective treatment option in managing hip pain in Gaucher disease","authors":"Krishan Almeida , Kaifeng Liang , Derralynn Hughes , Uma Ramaswami , Nimalan Maruthainar","doi":"10.1016/j.ymgme.2025.109307","DOIUrl":"10.1016/j.ymgme.2025.109307","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109307"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385488","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":"Benefits of measurement of left atrial size and function in the early diagnosis of Fabry disease","authors":"Abdelghani Bachir Cherif, Salam Bennouar, Yousra Djebbar, Nazli Elayadi","doi":"10.1016/j.ymgme.2025.109321","DOIUrl":"10.1016/j.ymgme.2025.109321","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"147 2","pages":"Article 109321"},"PeriodicalIF":3.5,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147385587","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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