Pub Date : 2025-02-01DOI: 10.1016/j.ymgme.2024.108700
Javier Adolfo de las Heras Montero , Miriam Gendive , Beatriz Sordo , Arantza Arza , Aritza Segurola , María Unceta , Teresa Cardoso Delgado
{"title":"Successful desensitization protocol to alglucosidase and avalglucosidase alfa in a patient with infantile-onset Pompe disease","authors":"Javier Adolfo de las Heras Montero , Miriam Gendive , Beatriz Sordo , Arantza Arza , Aritza Segurola , María Unceta , Teresa Cardoso Delgado","doi":"10.1016/j.ymgme.2024.108700","DOIUrl":"10.1016/j.ymgme.2024.108700","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108700"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133994","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.2024.108698
Patrick Deegan , Jordi Diaz-Manera , Tarekegn Geberhiwot , Derralynn Hughes , Meredith K. James , David Moreno Martinez , Elizabeth Morris , Azza Osman , Michael I. Polkey , Mark Roberts , Robin Lachmann
{"title":"Reaching consensus on comprehensive and achievable monitoring for adults with late-onset Pompe disease in the UK","authors":"Patrick Deegan , Jordi Diaz-Manera , Tarekegn Geberhiwot , Derralynn Hughes , Meredith K. James , David Moreno Martinez , Elizabeth Morris , Azza Osman , Michael I. Polkey , Mark Roberts , Robin Lachmann","doi":"10.1016/j.ymgme.2024.108698","DOIUrl":"10.1016/j.ymgme.2024.108698","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108698"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133996","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.2024.108660
Pablo Bianculli , Sefika Uslu Cil , Daniel Lewi , Kathleen Coolidge , Femida Gwadry-Sridhar , Antonio Oliveira-dos-Santos
{"title":"Prospective observational study to assess the long-term safety of olipudase alfa effect in pediatric patients less than 2 years of age with acid sphingomyelinase deficiency: Study design","authors":"Pablo Bianculli , Sefika Uslu Cil , Daniel Lewi , Kathleen Coolidge , Femida Gwadry-Sridhar , Antonio Oliveira-dos-Santos","doi":"10.1016/j.ymgme.2024.108660","DOIUrl":"10.1016/j.ymgme.2024.108660","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108660"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128694","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.2024.108692
Christine I. Dali , Malene Cording , Stephanie Grunewald , Sabine Groenborg , Marc Patterson , Eugen Mengel
{"title":"Safety of arimoclomol in a pediatric sub-study of Niemann-Pick disease type C patients aged 6 to 24 months at study enrolment","authors":"Christine I. Dali , Malene Cording , Stephanie Grunewald , Sabine Groenborg , Marc Patterson , Eugen Mengel","doi":"10.1016/j.ymgme.2024.108692","DOIUrl":"10.1016/j.ymgme.2024.108692","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108692"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133481","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.2024.108679
Yun-Ru Chen , Chihya Cheng , Yung-Hsiu Lu , Yu-Ting Chiang , Chuan-Kun Liu , Yao-Te Chiu , Fang-Chih Hsiao , Jui Teng Lai , Li Chung Kuei , Adam Yao , Dau-Ming Niu
{"title":"Applications of a rapid real time analysis system for whole genome/exome sequencing in newborn screening","authors":"Yun-Ru Chen , Chihya Cheng , Yung-Hsiu Lu , Yu-Ting Chiang , Chuan-Kun Liu , Yao-Te Chiu , Fang-Chih Hsiao , Jui Teng Lai , Li Chung Kuei , Adam Yao , Dau-Ming Niu","doi":"10.1016/j.ymgme.2024.108679","DOIUrl":"10.1016/j.ymgme.2024.108679","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108679"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172776","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.2024.108683
Megan J. Clarke , Nicole Kelly , Katrina Paleologos , Jack McDermott , Michael H. Gelb , Melissa Wasserstein
{"title":"Screenplus: An assay-based multi-tiered testing model for expanded NBS","authors":"Megan J. Clarke , Nicole Kelly , Katrina Paleologos , Jack McDermott , Michael H. Gelb , Melissa Wasserstein","doi":"10.1016/j.ymgme.2024.108683","DOIUrl":"10.1016/j.ymgme.2024.108683","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108683"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173880","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.2024.108673
Barry J. Byrne , Jeffrey Castelli , Vipul Jain , Sheela Sitaraman Das , Jennifer Zhang
{"title":"Cipaglucosidase alfa plus miglustat in Late-onset Pompe disease: Two non-ambulatory patients switching from high-dose, high-frequency alglucosidase alfa","authors":"Barry J. Byrne , Jeffrey Castelli , Vipul Jain , Sheela Sitaraman Das , Jennifer Zhang","doi":"10.1016/j.ymgme.2024.108673","DOIUrl":"10.1016/j.ymgme.2024.108673","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108673"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143174267","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.2024.108666
Amy Brooks
{"title":"Five years of newborn screening for mucopolysaccharidosis type I in Virginia","authors":"Amy Brooks","doi":"10.1016/j.ymgme.2024.108666","DOIUrl":"10.1016/j.ymgme.2024.108666","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108666"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172523","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.2024.108647
Daniel P. Bailey , Sarah Gosling , Cherry Kilbride , Louise Mansfield , Derralynn Hughes
{"title":"Feasibility, acceptability, and safety of a physical activity and sedentary behavior intervention (ACTIVE-FAB) for adults with Fabry disease","authors":"Daniel P. Bailey , Sarah Gosling , Cherry Kilbride , Louise Mansfield , Derralynn Hughes","doi":"10.1016/j.ymgme.2024.108647","DOIUrl":"10.1016/j.ymgme.2024.108647","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108647"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172913","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.2024.108677
Magdalena Ceron-Rodriguez, Carlos P. Acosta Rodríguez Bueno, Judith Almanza-Aranda, Alan E. Araujo Carrillo, Karla Cifuentes-Uribe
{"title":"Elastoresonance as a surveillance tool in a patient with acid sphingomyelinase deficiency undergoing treatment with olipudase alfa","authors":"Magdalena Ceron-Rodriguez, Carlos P. Acosta Rodríguez Bueno, Judith Almanza-Aranda, Alan E. Araujo Carrillo, Karla Cifuentes-Uribe","doi":"10.1016/j.ymgme.2024.108677","DOIUrl":"10.1016/j.ymgme.2024.108677","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108677"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143127826","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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