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RNA sequencing reveals the involvement of immune pathways in the Fabry disease nephropathy progression RNA测序揭示免疫途径参与法布里病肾病的进展
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108665
Nika Breznik , Tina Levstek , Bojan Vujkovac , Katarina Trebusak Podkrajsek
{"title":"RNA sequencing reveals the involvement of immune pathways in the Fabry disease nephropathy progression","authors":"Nika Breznik , Tina Levstek , Bojan Vujkovac , Katarina Trebusak Podkrajsek","doi":"10.1016/j.ymgme.2024.108665","DOIUrl":"10.1016/j.ymgme.2024.108665","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108665"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173248","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
Exploring the net monetary benefit of implementing newborn screening for metachromatic leukodystrophy in California 探索在加州实施新生儿异色性脑白质营养不良筛查的净货币效益
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
{"title":"Exploring the net monetary benefit of implementing newborn screening for metachromatic leukodystrophy in California","authors":"Karen Bean , Breonna Preston , Laura A. Adang , Francis Pang","doi":"10.1016/j.ymgme.2024.108651","DOIUrl":"10.1016/j.ymgme.2024.108651","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108651"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173249","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
Mucopolysaccharidosis type II sibling pairs study: A global retrospective chart review of effectiveness of idursulfase in infants and very young children with MPS II 粘多糖病II型兄弟姐妹研究：一项全球回顾性图表回顾伊杜硫酶对婴儿和非常年幼的儿童粘多糖病II的有效性
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 一名迟发性Pompe病儿科患者从高剂量、高频alfa糖苷酶转换为标准剂量的西葡糖苷酶加米卢司他的结果
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 登革热病毒感染的酸性鞘磷脂酶缺乏症患者的严重白细胞减少和血小板减少- 1例报告
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
Cell-based device provides effective therapeutic strategy to treat the metachromatic leukodystrophy 基于细胞的装置为治疗偏色差性脑白质营养不良提供了有效的治疗策略
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108648
Elena Gaia Banchi , Rafael Alonso , Kevin Fransquin , Timothée de Saint Denis , Adrien Engel , Sylvie Jacquot , Antonin Lamaziere , Nicolas Mach , Julien Grogg , Caroline Sevin , Françoise Piguet
{"title":"Cell-based device provides effective therapeutic strategy to treat the metachromatic leukodystrophy","authors":"Elena Gaia Banchi , Rafael Alonso , Kevin Fransquin , Timothée de Saint Denis , Adrien Engel , Sylvie Jacquot , Antonin Lamaziere , Nicolas Mach , Julien Grogg , Caroline Sevin , Françoise Piguet","doi":"10.1016/j.ymgme.2024.108648","DOIUrl":"10.1016/j.ymgme.2024.108648","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108648"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128506","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
Direct reprogramming of oligodendrocytes from globoid-cell leukodystrophy patient primary fibroblasts 白细胞营养不良患者原代成纤维细胞中少突胶质细胞的直接重编程
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108632
Anusha Aditya, Gustavo Maegawa
{"title":"Direct reprogramming of oligodendrocytes from globoid-cell leukodystrophy patient primary fibroblasts","authors":"Anusha Aditya, Gustavo Maegawa","doi":"10.1016/j.ymgme.2024.108632","DOIUrl":"10.1016/j.ymgme.2024.108632","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108632"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128815","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
Extending the interval between pegunigalsidase alfa infusions in patients with Fabry disease: Five-year interim results from the ongoing BRIGHT51 study 延长法布里病患者的pegunigalsidase α - fa输注间隔：正在进行的BRIGHT51研究的5年中期结果
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108656
John A. Bernat , Myrl Holida , Stephen Waldek , William R. Wilcox , Nicola Longo , Ozlem Goker-Alpan , Eric Wallace , Patrick Deegan , Camilla Tøndel , Francois Eyskens , Ulla Feldt-Rasmussen , Derralynn Hughes , Antonio Pisani , Ankit Mehta , Khan Nedd , David G. Warnock , Giovanni Piotti , Meng Wang , Einat Almon-Brill , Sari Alon , Aleš Linhart
{"title":"Extending the interval between pegunigalsidase alfa infusions in patients with Fabry disease: Five-year interim results from the ongoing BRIGHT51 study","authors":"John A. Bernat , Myrl Holida , Stephen Waldek , William R. Wilcox , Nicola Longo , Ozlem Goker-Alpan , Eric Wallace , Patrick Deegan , Camilla Tøndel , Francois Eyskens , Ulla Feldt-Rasmussen , Derralynn Hughes , Antonio Pisani , Ankit Mehta , Khan Nedd , David G. Warnock , Giovanni Piotti , Meng Wang , Einat Almon-Brill , Sari Alon , Aleš Linhart","doi":"10.1016/j.ymgme.2024.108656","DOIUrl":"10.1016/j.ymgme.2024.108656","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108656"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134574","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
Exploratory survey study on adjunctive use of medical cannabis for Gaucher disease 辅助使用医用大麻治疗戈谢病的探索性调查研究
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108712
Robin Ely , Yehoshua Berman , Yosef Y. Scher , Neal J. Weinreb
{"title":"Exploratory survey study on adjunctive use of medical cannabis for Gaucher disease","authors":"Robin Ely , Yehoshua Berman , Yosef Y. Scher , Neal J. Weinreb","doi":"10.1016/j.ymgme.2024.108712","DOIUrl":"10.1016/j.ymgme.2024.108712","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108712"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128289","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
Targeted therapeutic benefits of anakinra for sleep, gastrointestinal, and behavioral symptoms in Sanfilippo syndrome: A post hoc analysis in symptom-specific subgroups 阿那白拉对三菲利波综合征患者睡眠、胃肠和行为症状的靶向治疗益处：对症状特异性亚组的事后分析
IF 3.7 2区 生物学
Molecular genetics and metabolism Pub Date : 2025-02-01 DOI: 10.1016/j.ymgme.2024.108629
Jonathan Acevedo , Cara O'Neill , Adolfo Morales , Michelina Iacovino , Agnes Chen , Julie B. Eisengart , Lynda E. Polgreen
{"title":"Targeted therapeutic benefits of anakinra for sleep, gastrointestinal, and behavioral symptoms in Sanfilippo syndrome: A post hoc analysis in symptom-specific subgroups","authors":"Jonathan Acevedo , Cara O'Neill , Adolfo Morales , Michelina Iacovino , Agnes Chen , Julie B. Eisengart , Lynda E. Polgreen","doi":"10.1016/j.ymgme.2024.108629","DOIUrl":"10.1016/j.ymgme.2024.108629","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108629"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130654","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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