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Applications of a rapid real time analysis system for whole genome/exome sequencing in newborn screening
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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
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引用次数: 0
Screenplus: An assay-based multi-tiered testing model for expanded NBS
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
Cipaglucosidase alfa plus miglustat in Late-onset Pompe disease: Two non-ambulatory patients switching from high-dose, high-frequency alglucosidase alfa
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
Five years of newborn screening for mucopolysaccharidosis type I in Virginia
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
Feasibility, acceptability, and safety of a physical activity and sedentary behavior intervention (ACTIVE-FAB) for adults with Fabry disease
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
Elastoresonance as a surveillance tool in a patient with acid sphingomyelinase deficiency undergoing treatment with olipudase alfa
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
Is ambroxol a real protector for neuronopathic Gaucher disease
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108678
Magdalena Ceron-Rodriguez, Alan E. Araujo-Carrillo, Karla Cifuentes-Uribe
{"title":"Is ambroxol a real protector for neuronopathic Gaucher disease","authors":"Magdalena Ceron-Rodriguez, Alan E. Araujo-Carrillo, Karla Cifuentes-Uribe","doi":"10.1016/j.ymgme.2024.108678","DOIUrl":"10.1016/j.ymgme.2024.108678","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108678"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143127827","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}
引用次数: 0
Arimoclomol for the treatment of Niemann-Pick disease type C in a real-world setting: Long-term data from an expanded access program in the United States
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108658
Elizabeth Berry-Kravis , Walla Al-Hertani , Raymond Y. Wang , Marc Patterson , Can Ficicioglu , Loren Pena , Kristina Julich , Damara Ortiz , Paula Schleifer , Caroline A. Hastings , Paul Hillman , Ronan J. O'Reilly , Blair Orr , Daniel Gallo
{"title":"Arimoclomol for the treatment of Niemann-Pick disease type C in a real-world setting: Long-term data from an expanded access program in the United States","authors":"Elizabeth Berry-Kravis , Walla Al-Hertani , Raymond Y. Wang , Marc Patterson , Can Ficicioglu , Loren Pena , Kristina Julich , Damara Ortiz , Paula Schleifer , Caroline A. Hastings , Paul Hillman , Ronan J. O'Reilly , Blair Orr , Daniel Gallo","doi":"10.1016/j.ymgme.2024.108658","DOIUrl":"10.1016/j.ymgme.2024.108658","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108658"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130209","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}
引用次数: 0
Gaucher disease–correlation of lyso-Gb1 with biochemical therapeutic goals
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108694
Simona D'Amore , Juniebel Cooke , Sneha Patel , Uma Ramaswami
{"title":"Gaucher disease–correlation of lyso-Gb1 with biochemical therapeutic goals","authors":"Simona D'Amore , Juniebel Cooke , Sneha Patel , Uma Ramaswami","doi":"10.1016/j.ymgme.2024.108694","DOIUrl":"10.1016/j.ymgme.2024.108694","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108694"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143133480","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}
引用次数: 0
Evaluation and follow-up of newborns screening positive for mucopolysaccharidosis type II: Results from an international modified Delphi consensus
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108670
Barbara K. Burton , N.M. Ellinwood , Katey K. Hoffmann , Joseph Muenzer
{"title":"Evaluation and follow-up of newborns screening positive for mucopolysaccharidosis type II: Results from an international modified Delphi consensus","authors":"Barbara K. Burton , N.M. Ellinwood , Katey K. Hoffmann , Joseph Muenzer","doi":"10.1016/j.ymgme.2024.108670","DOIUrl":"10.1016/j.ymgme.2024.108670","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108670"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172520","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}
引用次数: 0
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