Pub Date : 2024-02-01DOI: 10.1016/j.ymgme.2023.108043
Seung-Yub Shin, Dong Hoon Kim, Jong-Suk Park, Soolki Kwon, Yoohoi Park, Sujin Ahn, Kyoung-Kyu Ahn, Se-Woong Oh
{"title":"Development of YH35995A, a novel highly potent and BBB-penetrating GCS inhibitor for the treatment of Gaucher disease","authors":"Seung-Yub Shin, Dong Hoon Kim, Jong-Suk Park, Soolki Kwon, Yoohoi Park, Sujin Ahn, Kyoung-Kyu Ahn, Se-Woong Oh","doi":"10.1016/j.ymgme.2023.108043","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108043","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"85 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687244","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.2023.108008
Ruth Pulikottil-Jacob, R. Krupnick, James Turnball, Chad Gwaltney, Walter Heine
{"title":"Content validation of the modified Friedreich Ataxia Rating Scale-Activities of Daily Living (mFARS-ADL) for use with Gaucher disease type 3 patients: A qualitative study","authors":"Ruth Pulikottil-Jacob, R. Krupnick, James Turnball, Chad Gwaltney, Walter Heine","doi":"10.1016/j.ymgme.2023.108008","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108008","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"84 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139687248","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.2023.107842
Aidan Gill, Gisela Linthorst, Daniel Lewi
{"title":"Swallowing disturbance is an important feature of neurological lysosomal disease: For patients and families","authors":"Aidan Gill, Gisela Linthorst, Daniel Lewi","doi":"10.1016/j.ymgme.2023.107842","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107842","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"11 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139811913","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.2023.107959
R. M. Quintela, Noemie Hurst, L. L. de Frutos, Aurelien Thiers, C. Luzy, R. M. Pipke
{"title":"Use of wearable sensor technology to identify digital biomarkers for monitoring gait parameters in children and adolescents with GM1 and GM2 gangliosidoses","authors":"R. M. Quintela, Noemie Hurst, L. L. de Frutos, Aurelien Thiers, C. Luzy, R. M. Pipke","doi":"10.1016/j.ymgme.2023.107959","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107959","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"5 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139814575","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.2023.107969
Elizabeth Morris, Catherine Stewart, Niamh Finnegan, S. Forshaw-Hulme, Louise Jopling
{"title":"Filling the gap: Creation of a lysosomal disorders specific training programme for healthcare professionals","authors":"Elizabeth Morris, Catherine Stewart, Niamh Finnegan, S. Forshaw-Hulme, Louise Jopling","doi":"10.1016/j.ymgme.2023.107969","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107969","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"32 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139815404","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.2023.107966
Marta Morado, Jesus Villarrubia, I. Vitoria, E. Calderón, Miguel Angel Torralba Cabeza
{"title":"Study of adult and pediatric patients with idiopathic splenomegaly and splenectomy: The PREDIGA study- PRoject for the Education and DIagnosis of Gaucher disease and Acid sphingomyelinase deficiency","authors":"Marta Morado, Jesus Villarrubia, I. Vitoria, E. Calderón, Miguel Angel Torralba Cabeza","doi":"10.1016/j.ymgme.2023.107966","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107966","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"12 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139816195","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.2023.107849
Roberto Giugliani, P. Harmatz, Bénédicte Héron, Marc Patterson, Susanne A Schneider, Aurélie Bourchany, Andreas Hahn, Daniel A.D. Valle, Rita Maria Elisa Barone, Brigitte Chabrol, Anna Ardissone, S. Batzios, Maurizio Scarpa, Nicoleta Carp, Laetitia Crapard, L. L. de Frutos, R. M. Quintela, Aurelien Thiers, C. Luzy
{"title":"A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Patients' and caregivers' assessments","authors":"Roberto Giugliani, P. Harmatz, Bénédicte Héron, Marc Patterson, Susanne A Schneider, Aurélie Bourchany, Andreas Hahn, Daniel A.D. Valle, Rita Maria Elisa Barone, Brigitte Chabrol, Anna Ardissone, S. Batzios, Maurizio Scarpa, Nicoleta Carp, Laetitia Crapard, L. L. de Frutos, R. M. Quintela, Aurelien Thiers, C. Luzy","doi":"10.1016/j.ymgme.2023.107849","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107849","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"103 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139817013","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.2023.108070
Raymond Y. Wang, Nina Movsesyan, Shih-hsin Kan, T. Beydoun, M. Taylor, Richard C. Chang, Dawn Phillips, Jenna Burke, Michelle Gilmor, Yoonjin Cho, Paulo Falabella, Laura Pisani
{"title":"First in-human, intracisternal dosing of RGX-111, an investigational AAV gene therapy, for a 21-month-old child with mucopolysaccharidosis type I (MPS I): 3.5 year follow-up","authors":"Raymond Y. Wang, Nina Movsesyan, Shih-hsin Kan, T. Beydoun, M. Taylor, Richard C. Chang, Dawn Phillips, Jenna Burke, Michelle Gilmor, Yoonjin Cho, Paulo Falabella, Laura Pisani","doi":"10.1016/j.ymgme.2023.108070","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108070","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"69 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139817422","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.2023.108090
Sarah P. Young, B. Lianoglou, Akos Herzeg, Beltran Borges, Pranesh Chakraborty, Deeksha Bali, Juan M. Gonzalez, Emma Canepa, Priya S. Kishnani, Jennifer L. Cohen, P. Harmatz, T. Mackenzie
{"title":"Measurement of glycosaminoglycans in the amniotic fluid of fetuses with mucopolysaccharidoses treated in a phase I clinical trial by in utero enzyme replacement therapy","authors":"Sarah P. Young, B. Lianoglou, Akos Herzeg, Beltran Borges, Pranesh Chakraborty, Deeksha Bali, Juan M. Gonzalez, Emma Canepa, Priya S. Kishnani, Jennifer L. Cohen, P. Harmatz, T. Mackenzie","doi":"10.1016/j.ymgme.2023.108090","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.108090","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"53 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139817979","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.2023.107937
Mikhail Levit, Preet Bais, Pavithra Krishnaswami, I. Batsu, Bailin Zhang, Katherine W. Klinger, S. P. Sardi, Can Kayatekin
{"title":"Olink® proteomic profiling of biofluids from patients with Gaucher disease type 3 to understand disease pathology","authors":"Mikhail Levit, Preet Bais, Pavithra Krishnaswami, I. Batsu, Bailin Zhang, Katherine W. Klinger, S. P. Sardi, Can Kayatekin","doi":"10.1016/j.ymgme.2023.107937","DOIUrl":"https://doi.org/10.1016/j.ymgme.2023.107937","url":null,"abstract":"","PeriodicalId":504050,"journal":{"name":"Molecular Genetics and Metabolism","volume":"179 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139819328","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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