Pub Date : 2025-02-01DOI: 10.1016/j.ymgme.2024.108671
Barbara K. Burton , Daniel Fertek , Peter Chin , Carole Ho , Joseph Muenzer , Torayuki Okuyama , Simon A. Jones
{"title":"Unmet needs in the treatment and care of somatic manifestations in people with mucopolysaccharidosis type II (Hunter syndrome): A targeted literature review","authors":"Barbara K. Burton , Daniel Fertek , Peter Chin , Carole Ho , Joseph Muenzer , Torayuki Okuyama , Simon A. Jones","doi":"10.1016/j.ymgme.2024.108671","DOIUrl":"10.1016/j.ymgme.2024.108671","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108671"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172525","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 : 2025-02-01DOI: 10.1016/j.ymgme.2024.108663
Elizabeth Braunlin, M.A. Simmons, Akpa Bimaje, Paul J. Orchard
{"title":"Transitioning individuals with MPS to adult care","authors":"Elizabeth Braunlin, M.A. Simmons, Akpa Bimaje, Paul J. Orchard","doi":"10.1016/j.ymgme.2024.108663","DOIUrl":"10.1016/j.ymgme.2024.108663","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108663"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173247","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 : 2025-02-01DOI: 10.1016/j.ymgme.2024.108651
Karen Bean , Breonna Preston , Laura A. Adang , Francis Pang
{"title":"Exploring the net monetary benefit of implementing newborn screening for metachromatic leukodystrophy in California","authors":"Karen Bean , Breonna Preston , Laura A. Adang , Francis Pang","doi":"10.1016/j.ymgme.2024.108651","DOIUrl":"10.1016/j.ymgme.2024.108651","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108651"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173249","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 : 2025-02-01DOI: 10.1016/j.ymgme.2024.108672
Barbara K. Burton , Bernd Schweikert , Olivia Okoli , Diana Sanchez-Hernandez , Jaco Botha , Jennifer Audi , Csaba Siffel , Olulade Ayodele
{"title":"Mucopolysaccharidosis type II sibling pairs study: A global retrospective chart review of effectiveness of idursulfase in infants and very young children with MPS II","authors":"Barbara K. Burton , Bernd Schweikert , Olivia Okoli , Diana Sanchez-Hernandez , Jaco Botha , Jennifer Audi , Csaba Siffel , Olulade Ayodele","doi":"10.1016/j.ymgme.2024.108672","DOIUrl":"10.1016/j.ymgme.2024.108672","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108672"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173260","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 : 2025-02-01DOI: 10.1016/j.ymgme.2024.108697
Stephanie DeArmey , Priya S. Kishnani , Ming Xu , Hadis Williams , Farah Amon , Sheela Sitaraman Das
{"title":"Outcomes of a pediatric patient with late-onset Pompe disease switching from high-dose, high-frequency alglucosidase alfa to standard-dose cipaglucosidase alfa plus miglustat","authors":"Stephanie DeArmey , Priya S. Kishnani , Ming Xu , Hadis Williams , Farah Amon , Sheela Sitaraman Das","doi":"10.1016/j.ymgme.2024.108697","DOIUrl":"10.1016/j.ymgme.2024.108697","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108697"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173875","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 : 2025-02-01DOI: 10.1016/j.ymgme.2024.108690
Marco A. Curiati , Sandra O. Kyosen , Camila C. Fonseca , Ana Maria Martins
{"title":"Severe leukopenia and thrombocytopenia in an acid sphingomyelinase deficiency patient with dengue virus infection–Case report","authors":"Marco A. Curiati , Sandra O. Kyosen , Camila C. Fonseca , Ana Maria Martins","doi":"10.1016/j.ymgme.2024.108690","DOIUrl":"10.1016/j.ymgme.2024.108690","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108690"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173884","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 : 2025-02-01DOI: 10.1016/j.ymgme.2024.108664
Tatiana Bremova-Ertl , Matthias Gautschi , Paul Gissen , Andreas Hahn , Simon Jones , Eugen Mengel , Laila Arash-Kaps , Grecia Mendoza , Julien H. Park , Uma Ramaswami , Kyriakos Martakis , Marion Brands
{"title":"Long-term findings of N-acetyl-L-leucine for Niemann-Pick disease type C","authors":"Tatiana Bremova-Ertl , Matthias Gautschi , Paul Gissen , Andreas Hahn , Simon Jones , Eugen Mengel , Laila Arash-Kaps , Grecia Mendoza , Julien H. Park , Uma Ramaswami , Kyriakos Martakis , Marion Brands","doi":"10.1016/j.ymgme.2024.108664","DOIUrl":"10.1016/j.ymgme.2024.108664","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108664"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130211","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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