Pub Date : 2024-04-01DOI: 10.1016/j.ymgme.2024.108385
A Kozek , B Kurkjain , K Arduini , J Baker
{"title":"P.19 Use of plant-based peptide formula in patients with organic acidemias","authors":"A Kozek , B Kurkjain , K Arduini , J Baker","doi":"10.1016/j.ymgme.2024.108385","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108385","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":"140552310","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}
Pub Date : 2024-04-01DOI: 10.1016/j.ymgme.2024.108386
AN Malik , RH Singh
{"title":"P.20 Utilizing the BioPKU database to personalize nutrition and treatment interventions for patients with PKU","authors":"AN Malik , RH Singh","doi":"10.1016/j.ymgme.2024.108386","DOIUrl":"https://doi.org/10.1016/j.ymgme.2024.108386","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":"140552311","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}
Pub Date : 2024-04-01DOI: 10.1016/j.ymgme.2024.108221
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":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":"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":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}
Pub Date : 2024-04-01DOI: 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}
Pub Date : 2024-04-01DOI: 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}
{"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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：