Jillian Jetmore, Eliza Gordon-Lipkin, Shannon Kruk, Peter McGuire
{"title":"Early-onset respiratory distress in a patient with compound heterozygous pathogenic variants in FARS2","authors":"Jillian Jetmore, Eliza Gordon-Lipkin, Shannon Kruk, Peter McGuire","doi":"10.1016/j.ymgme.2024.108221","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108221","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"141 4","pages":"Article 108221"},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140346806","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}
{"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":"141 4","pages":"Article 108234"},"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}
{"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":"141 4","pages":"Article 108193"},"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}
{"title":"Abstracts for Short Oral Presentations","authors":"","doi":"10.1016/j.ymgme.2024.108164","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108164","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"141 4","pages":"Article 108164"},"PeriodicalIF":3.8,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140346962","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}
{"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":"141 4","pages":"Article 108156"},"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}
{"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":"141 4","pages":"Article 108227"},"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}
{"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":"141 4","pages":"Article 108200"},"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}
{"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":"141 4","pages":"Article 108213"},"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}