Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107903
Dongkyu Jin, Jinsup Kim, A. Yang, SooKyung Shin
{"title":"A phase III clinical trial of GC1111 as an enzyme replacement therapy in previously untreated mucopolysaccharidosis type II (Hunter syndrome) patients: A double-blind, randomized, active-controlled (part 1) and open-labeled, historical placebo-controlled (part 2) study","authors":"Dongkyu Jin, Jinsup Kim, A. Yang, SooKyung Shin","doi":"10.1016/j.ymgme.2023.107903","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107903","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"21 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139890316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107879
Christian Hendriksz, V. Aleksovska, Marli Derksen, Asmahan T. Abdulla, Emmanuel Ameyaw, Tanya Collin-Histed, K. Muze, Abiola Oduwole, Renson Mukhwana, Chris B. Vorster
{"title":"No patient should be left behind: Pilot project to expand lysosomal disorder diagnostics in Africa","authors":"Christian Hendriksz, V. Aleksovska, Marli Derksen, Asmahan T. Abdulla, Emmanuel Ameyaw, Tanya Collin-Histed, K. Muze, Abiola Oduwole, Renson Mukhwana, Chris B. Vorster","doi":"10.1016/j.ymgme.2023.107879","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107879","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"27 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139876445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.108082
Anna-Maria Wiesinger, Wanda Lauth, Roberto Giugliani, N. Muschol, Charlotte Aries, Dorothea Moeslinger, Eugen Mengel, Daniel Weghuber, Florian Lagler
{"title":"Development of a suspicion index tool to aid diagnosis of ASMD disease","authors":"Anna-Maria Wiesinger, Wanda Lauth, Roberto Giugliani, N. Muschol, Charlotte Aries, Dorothea Moeslinger, Eugen Mengel, Daniel Weghuber, Florian Lagler","doi":"10.1016/j.ymgme.2023.108082","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108082","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"46 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139683984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107926
S. Kyosen, Camila C. Azevedo, Tauane F. Rego, Gabriel Ogata, Alef Cleto Almeida, Marcelo H. Yamamoto, Ana Maria Martins, Temis M. Felix
{"title":"Time-driven activity-based costing (TDABC) of current clinical practice for mucopolysaccharidosis type II patients assisted at one institution of the Brazilian Public Healthcare System: Data from JAV-RARAS Study","authors":"S. Kyosen, Camila C. Azevedo, Tauane F. Rego, Gabriel Ogata, Alef Cleto Almeida, Marcelo H. Yamamoto, Ana Maria Martins, Temis M. Felix","doi":"10.1016/j.ymgme.2023.107926","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107926","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"8 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139684995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107947
Irina Maksimova, Alexandra Dumitriu, Ana Crespo, Gandarvaka Miles, Andrea Ocampo, Queeny Ip, Michael Jordan, Natalia Petruski-Ivleva, Roberto Araujo
{"title":"Different monitoring patterns in treated and untreated patients with Fabry disease: Analysis of a United States claims database","authors":"Irina Maksimova, Alexandra Dumitriu, Ana Crespo, Gandarvaka Miles, Andrea Ocampo, Queeny Ip, Michael Jordan, Natalia Petruski-Ivleva, Roberto Araujo","doi":"10.1016/j.ymgme.2023.107947","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107947","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"249 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139812715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.108005
M. Przybilla, Hanna Saveraid, Li Ou, C. Whitley
{"title":"Optimal stoichiometry of CRISPR-Cas9 components in the PS Gene-editing System","authors":"M. Przybilla, Hanna Saveraid, Li Ou, C. Whitley","doi":"10.1016/j.ymgme.2023.108005","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108005","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"56 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139814006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.108002
F. Poswar, Raquel Schneider, E. Gonzalez, Luz Elene Durán Carabali, C. D. de Souza, Angela B. Santos, G. Baldo, Roberto Giugliani
{"title":"Safety and tolerability of losartan for the treatment of cardiovascular manifestations in mucopolysaccharidoses types IVA and VI","authors":"F. Poswar, Raquel Schneider, E. Gonzalez, Luz Elene Durán Carabali, C. D. de Souza, Angela B. Santos, G. Baldo, Roberto Giugliani","doi":"10.1016/j.ymgme.2023.108002","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108002","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"7 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139816055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107860
Christina L. Grant, Allison Failla, KeriAnn W. Kuperman
{"title":"Cardiac findings in neuronopathic MPS I: A case series","authors":"Christina L. Grant, Allison Failla, KeriAnn W. Kuperman","doi":"10.1016/j.ymgme.2023.107860","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107860","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"194 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139816779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107898
Skyler K. Jackson, Anne Rugari, Reena V. Kartha
{"title":"Rare Disease Difference Maker® program","authors":"Skyler K. Jackson, Anne Rugari, Reena V. Kartha","doi":"10.1016/j.ymgme.2023.107898","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107898","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"90 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139821907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.107955
Dietrich Matern, Khaja Basheeruddin, Tracy L. Klug, Gwendolyn McKee, Patricia U. Edge, Joanne Kurtzberg, Patricia L. Hall, Joseph Orsini
{"title":"Newborn screening for Krabbe disease: Status quo and recommendations for improvements","authors":"Dietrich Matern, Khaja Basheeruddin, Tracy L. Klug, Gwendolyn McKee, Patricia U. Edge, Joanne Kurtzberg, Patricia L. Hall, Joseph Orsini","doi":"10.1016/j.ymgme.2023.107955","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107955","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"498 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139824267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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