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Molecular genetics and metabolism最新文献

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Early-onset respiratory distress in a patient with compound heterozygous pathogenic variants in FARS2 一名 FARS2 复合杂合子致病变异体患者的早发呼吸窘迫症
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108221
Jillian Jetmore, Eliza Gordon-Lipkin, Shannon Kruk, Peter McGuire
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引用次数: 0
Genetic landscape of primary mitochondrial disorders due to pathogenic variants in the mitochondrial and nuclear genome in childhood and adulthood 儿童期和成年期线粒体基因组和核基因组致病变体导致的原发性线粒体疾病的遗传特征
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108234
Saadet Mercimek-Andrews , Anastasia Ambrose , Saloni Sharma , Dan Zhang , Shalini Bahl , Clara Hung , Shailly Jain , Alicia Chan
{"title":"Genetic landscape of primary mitochondrial disorders due to pathogenic variants in the mitochondrial and nuclear genome in childhood and adulthood","authors":"Saadet Mercimek-Andrews , Anastasia Ambrose , Saloni Sharma , Dan Zhang , Shalini Bahl , Clara Hung , Shailly Jain , Alicia Chan","doi":"10.1016/j.ymgme.2024.108234","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108234","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":"140346874","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
Risk assessment of acetaminophen-induced liver injury in citrin deficiency using a citrin deficiency knockout mouse model 利用柠檬素缺乏症基因敲除小鼠模型，对乙酰氨基酚诱导的柠檬素缺乏症肝损伤进行风险评估
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108193
Hikaru Nishida, Eri Imagawa, Kimihiko Oishi
{"title":"Risk assessment of acetaminophen-induced liver injury in citrin deficiency using a citrin deficiency knockout mouse model","authors":"Hikaru Nishida, Eri Imagawa, Kimihiko Oishi","doi":"10.1016/j.ymgme.2024.108193","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108193","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":"140346906","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
Challenges in the design of successful clinical trials for inborn errors of metabolism 设计成功的先天性代谢错误临床试验所面临的挑战
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108156
Barbara K. Burton
{"title":"Challenges in the design of successful clinical trials for inborn errors of metabolism","authors":"Barbara K. Burton","doi":"10.1016/j.ymgme.2024.108156","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108156","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":"140347005","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
Bleeding disorder in an individual with 3-methylglutaconic aciduria type I 3-甲基戊二酸尿症 I 型患者的出血性疾病
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108227
Michael Kho, Hui Zhang, Alejandra Oliva, Deanna Ronne, Teodoro Jerves Serrano
{"title":"Bleeding disorder in an individual with 3-methylglutaconic aciduria type I","authors":"Michael Kho, Hui Zhang, Alejandra Oliva, Deanna Ronne, Teodoro Jerves Serrano","doi":"10.1016/j.ymgme.2024.108227","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108227","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":"140347041","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
Characteristic fetal brain MRI abnormalities in pyruvate dehydrogenase complex deficiency enables early diagnosis and counseling 丙酮酸脱氢酶复合体缺乏症的胎儿脑磁共振成像特征性异常有助于早期诊断和咨询
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108219
Olivier Fortin , Kelsey Christoffel , Jason Schroeder , Kate Cilli , Abdullah Shoaib , Charu Venkatesan , Cesar Alves , Rebecca Ganetzky , Jamie Fraser
{"title":"Characteristic fetal brain MRI abnormalities in pyruvate dehydrogenase complex deficiency enables early diagnosis and counseling","authors":"Olivier Fortin , Kelsey Christoffel , Jason Schroeder , Kate Cilli , Abdullah Shoaib , Charu Venkatesan , Cesar Alves , Rebecca Ganetzky , Jamie Fraser","doi":"10.1016/j.ymgme.2024.108219","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108219","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":"140347408","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
Characterization of ceramide species in a mitochondrial trifunctional protein deficiency mouse model 线粒体三功能蛋白缺乏症小鼠模型中神经酰胺种类的特征
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108200
Eduardo Vieira Neto, Yudong Wang, Shakuntala Basu, Xue-Jun Zhao, Jerry Vockley
{"title":"Characterization of ceramide species in a mitochondrial trifunctional protein deficiency mouse model","authors":"Eduardo Vieira Neto, Yudong Wang, Shakuntala Basu, Xue-Jun Zhao, Jerry Vockley","doi":"10.1016/j.ymgme.2024.108200","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108200","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":"140347462","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
HCU Network America patient surveys help define what is important to patients 美国 HCU 网络的患者调查有助于确定什么对患者最重要
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108213
Kimberly Chapman , Vanessa Vogel-Farley , Danae Bartke
{"title":"HCU Network America patient surveys help define what is important to patients","authors":"Kimberly Chapman , Vanessa Vogel-Farley , Danae Bartke","doi":"10.1016/j.ymgme.2024.108213","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108213","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":"140347621","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
Characterizing the clinical course of pediatric-onset neuromuscular glycogen storage disease IV: An international, collaborative study 描述小儿神经肌肉糖原贮积症（IV）的临床过程：一项国际合作研究
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108182
Maheen Sheikh , Rebecca Koch , Cheryl Longman , Maria Elena Farrugia , Priya Kishnani
{"title":"Characterizing the clinical course of pediatric-onset neuromuscular glycogen storage disease IV: An international, collaborative study","authors":"Maheen Sheikh , Rebecca Koch , Cheryl Longman , Maria Elena Farrugia , Priya Kishnani","doi":"10.1016/j.ymgme.2024.108182","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108182","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":"140347627","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
COVID-19 vaccine acceptance in individuals with PKU PKU 患者对 COVID-19 疫苗的接受程度
IF 3.8 2区 生物学
Molecular genetics and metabolism Pub Date : 2024-04-01 DOI: 10.1016/j.ymgme.2024.108241
Matthew Mangel, Kimberly Parkin, Stephanie Sacharow
{"title":"COVID-19 vaccine acceptance in individuals with PKU","authors":"Matthew Mangel, Kimberly Parkin, Stephanie Sacharow","doi":"10.1016/j.ymgme.2024.108241","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108241","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":"140347633","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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