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Exploring the net monetary benefit of implementing newborn screening for metachromatic leukodystrophy in California
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108651
Karen Bean , Breonna Preston , Laura A. Adang , Francis Pang
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引用次数: 0
Mucopolysaccharidosis type II sibling pairs study: A global retrospective chart review of effectiveness of idursulfase in infants and very young children with MPS II
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
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
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
Severe leukopenia and thrombocytopenia in an acid sphingomyelinase deficiency patient with dengue virus infection–Case report
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
Long-term findings of N-acetyl-L-leucine for Niemann-Pick disease type C
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
Validation of “in silico” predictors for analyzing variants of uncertain significance in lysosomal disorders
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108640
Isidro Arevalo-Vargas , Irene Serrano Gonzalo , Sonia Roca-Esteve , Carlos Lahoz , Pilar Mozas , Pilar Giraldo
{"title":"Validation of “in silico” predictors for analyzing variants of uncertain significance in lysosomal disorders","authors":"Isidro Arevalo-Vargas , Irene Serrano Gonzalo , Sonia Roca-Esteve , Carlos Lahoz , Pilar Mozas , Pilar Giraldo","doi":"10.1016/j.ymgme.2024.108640","DOIUrl":"10.1016/j.ymgme.2024.108640","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108640"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130655","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
Successful desensitization protocol to alglucosidase and avalglucosidase alfa in a patient with infantile-onset Pompe disease
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
Reaching consensus on comprehensive and achievable monitoring for adults with late-onset Pompe disease in the UK
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
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
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
Safety of arimoclomol in a pediatric sub-study of Niemann-Pick disease type C patients aged 6 to 24 months at study enrolment
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 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}
引用次数: 0
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