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Molecular genetics and metabolism最新文献

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“Cassandra Curse” or a modern “Sisyphus Burden”? Recurrent attacks in a cohort of Brazilian patients with acute hepatic porphyrias "卡桑德拉诅咒 "还是现代 "西西弗斯负担"？巴西一组急性肝卟啉症患者的反复发作
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108306
C. Lourenco, Regina Albuquerque, J. Fonseca, Erica Coelho, A. Queiroz, Maria Morita, E. Estephan, Lilian Sansão, Thamy Fagundes, Daniela Aguiar
{"title":"“Cassandra Curse” or a modern “Sisyphus Burden”? Recurrent attacks in a cohort of Brazilian patients with acute hepatic porphyrias","authors":"C. Lourenco, Regina Albuquerque, J. Fonseca, Erica Coelho, A. Queiroz, Maria Morita, E. Estephan, Lilian Sansão, Thamy Fagundes, Daniela Aguiar","doi":"10.1016/j.ymgme.2024.108306","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108306","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140760116","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
Development of a metabolic decompensation event severity score for patients with propionic acidemia or methylmalonic acidemia 为丙酸血症或甲基丙二酸血症患者制定代谢失代偿事件严重程度评分标准
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108258
Ethan J. Schwartz, N. Longo, Sue Perera, C. Dionisi-Vici, Mary Leuchars, Andrew Burrow, Temitayo Ajayi, J. de las Heras, Geetanjoli Banerjee, Carlos Prada, M. A. Bellenger, O. Moshkovich, Vanja Sikirica
{"title":"Development of a metabolic decompensation event severity score for patients with propionic acidemia or methylmalonic acidemia","authors":"Ethan J. Schwartz, N. Longo, Sue Perera, C. Dionisi-Vici, Mary Leuchars, Andrew Burrow, Temitayo Ajayi, J. de las Heras, Geetanjoli Banerjee, Carlos Prada, M. A. Bellenger, O. Moshkovich, Vanja Sikirica","doi":"10.1016/j.ymgme.2024.108258","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108258","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140764662","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
Heterzygous GLDC variant in a patient with biochemical and clinical findings of nonketotic hyperglycinemia (NKH) 一名非酮症性高血糖症（NKH）患者的杂合子 GLDC 变体的生化和临床表现
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108276
Chelsea Zimmerman, Hui Pang, Yazmin Enchautegui-Colon
{"title":"Heterzygous GLDC variant in a patient with biochemical and clinical findings of nonketotic hyperglycinemia (NKH)","authors":"Chelsea Zimmerman, Hui Pang, Yazmin Enchautegui-Colon","doi":"10.1016/j.ymgme.2024.108276","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108276","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140772786","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
Development of a scoring system to define lysosomal diseases 开发定义溶酶体疾病的评分系统
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108294
Tatiana Yuzyuk, Matheus Vernet Machado Bressan Wilk, Jenny Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell, Raquel Fernandez, Hongjie Chen, Deeksha Bali, Heather Baudet, Lorne Clarke, Christina Hung, Rong Mao, W. Craigen, Filippo Pinto e Vairo
{"title":"Development of a scoring system to define lysosomal diseases","authors":"Tatiana Yuzyuk, Matheus Vernet Machado Bressan Wilk, Jenny Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell, Raquel Fernandez, Hongjie Chen, Deeksha Bali, Heather Baudet, Lorne Clarke, Christina Hung, Rong Mao, W. Craigen, Filippo Pinto e Vairo","doi":"10.1016/j.ymgme.2024.108294","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108294","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140767902","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
Metabolic adaptations with sustained pegvaliase therapy in adults with phenylketonuria 苯丙酮尿症成人持续接受培格瓦利酶治疗后的代谢适应情况
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108259
Meriah S. Schoen, Rani Singh
{"title":"Metabolic adaptations with sustained pegvaliase therapy in adults with phenylketonuria","authors":"Meriah S. Schoen, Rani Singh","doi":"10.1016/j.ymgme.2024.108259","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108259","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140769922","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
Identification of mild PAH deficiency through expanded carrier screening, undetected via newborn screening process 通过扩大的携带者筛查确定轻度 PAH 缺乏症，但新生儿筛查过程中未检测到
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108333
Karen Becker, Andrea Paras, Anne Kozek, E. Vucko
{"title":"Identification of mild PAH deficiency through expanded carrier screening, undetected via newborn screening process","authors":"Karen Becker, Andrea Paras, Anne Kozek, E. Vucko","doi":"10.1016/j.ymgme.2024.108333","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108333","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140759569","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
Riboflavin transporter deficiency unmasked by dietary changes 饮食变化揭示核黄素转运体缺乏症
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108302
Annet Bosch, Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Disterlmaier, Nicole Wolf
{"title":"Riboflavin transporter deficiency unmasked by dietary changes","authors":"Annet Bosch, Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Disterlmaier, Nicole Wolf","doi":"10.1016/j.ymgme.2024.108302","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108302","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140760899","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
Two versus one newborn screens: Policy considerations for state newborn screening laboratories based on the Texas experience 两次与一次新生儿筛查：基于得克萨斯州经验的州立新生儿筛查实验室政策考虑因素
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108335
Hsiang-Chun Chang, Patricia Hunt, Yoel Gofin, Laura Makay, Rachel Lee, Susan Tanksley, Leslie McKenzie, Claudia Soler-Alfonso, Lindsay Burrage, Debra Freedenberg, Sanjiv Harpavat
{"title":"Two versus one newborn screens: Policy considerations for state newborn screening laboratories based on the Texas experience","authors":"Hsiang-Chun Chang, Patricia Hunt, Yoel Gofin, Laura Makay, Rachel Lee, Susan Tanksley, Leslie McKenzie, Claudia Soler-Alfonso, Lindsay Burrage, Debra Freedenberg, Sanjiv Harpavat","doi":"10.1016/j.ymgme.2024.108335","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108335","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140785953","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
Histopathological study of intracranial gaucheroma causing deafness in a patient with gaucher disease type 3: Effects of substrate reduction therapy 一名 3 型高切氏病患者颅内高切氏瘤致聋的组织病理学研究：基质减少疗法的效果
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108273
Shoji Yano, Rachel McGowan, Mikako Warren
{"title":"Histopathological study of intracranial gaucheroma causing deafness in a patient with gaucher disease type 3: Effects of substrate reduction therapy","authors":"Shoji Yano, Rachel McGowan, Mikako Warren","doi":"10.1016/j.ymgme.2024.108273","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108273","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140771547","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
Multiple autosomal recessive conditions found within a Guatemalan Chuj population 在危地马拉 Chuj 人群中发现多种常染色体隐性遗传病
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108296
Julie Fleischer, Sibyl Cox, Veronica Espina
{"title":"Multiple autosomal recessive conditions found within a Guatemalan Chuj population","authors":"Julie Fleischer, Sibyl Cox, Veronica Espina","doi":"10.1016/j.ymgme.2024.108296","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108296","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140774959","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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