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Cobalamin F deficiency detected through newborn screening: A case report 新生儿筛查发现钴胺素F缺乏症1例报告
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109954
Caterina Abdala Villa
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引用次数: 0
Genetic therapies for urea cycle disorders including OTC deficiency 尿素循环障碍包括OTC缺乏症的基因疗法
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109923
Cary Harding
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引用次数: 0
A girl with NBS-negative, early infantile-onset suspected cobalamin J deficiency 一名nbs阴性的女孩，早期婴儿发病怀疑钴胺素J缺乏症
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109979
Andrea Cohen , Rami Ballout , Jennifer Sloan , Carolina Galarreta , Irini Manoli , Charles Venditti , Kimberly Chapman
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引用次数: 0
Join SIMD.
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 DOI: 10.1016/j.ymgme.2026.109900
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引用次数: 0
Program for the 2026 SIMD Annual Meeting 2026年SIMD年会计划
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109901
{"title":"Program for the 2026 SIMD Annual Meeting","authors":"","doi":"10.1016/j.ymgme.2026.109901","DOIUrl":"10.1016/j.ymgme.2026.109901","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109901"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923273","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
Supporters of SIMD for 2026 2026年SIMD的支持者
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109902
{"title":"Supporters of SIMD for 2026","authors":"","doi":"10.1016/j.ymgme.2026.109902","DOIUrl":"10.1016/j.ymgme.2026.109902","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109902"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923275","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
Differences between plasma and muscle acylcarnitine profiles in long-chain fatty acid disorders 长链脂肪酸紊乱患者血浆和肌肉酰基肉碱谱的差异
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109985
Gabriela Elizondo , Ashley Gregor , Dietrich Matern , Jonathan Purnell , Cary Harding , Melanie Gillingham
{"title":"Differences between plasma and muscle acylcarnitine profiles in long-chain fatty acid disorders","authors":"Gabriela Elizondo , Ashley Gregor , Dietrich Matern , Jonathan Purnell , Cary Harding , Melanie Gillingham","doi":"10.1016/j.ymgme.2026.109985","DOIUrl":"10.1016/j.ymgme.2026.109985","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109985"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923363","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
Decoding mitochondrial disease across the lifespan: Comprehensive clinical profiling of a single-center cohort 解码线粒体疾病在整个生命周期：单中心队列的综合临床分析
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109956
Burak Altintas, Marwan Shinawi
{"title":"Decoding mitochondrial disease across the lifespan: Comprehensive clinical profiling of a single-center cohort","authors":"Burak Altintas, Marwan Shinawi","doi":"10.1016/j.ymgme.2026.109956","DOIUrl":"10.1016/j.ymgme.2026.109956","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109956"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923387","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
Insights into pediatric porphyrias from a large laboratory cohort 来自大型实验室队列的儿童卟啉症的见解
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.109934
Janet Martin, Dawn Peck, April Studinski, Jenny Thies, Amy White, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli, Patricia Hall
{"title":"Insights into pediatric porphyrias from a large laboratory cohort","authors":"Janet Martin, Dawn Peck, April Studinski, Jenny Thies, Amy White, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli, Patricia Hall","doi":"10.1016/j.ymgme.2026.109934","DOIUrl":"10.1016/j.ymgme.2026.109934","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109934"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923422","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
Early developmental delay with adult-onset neurodegeneration: An expanded phenotype of CARS2-related mitochondrial disease? 早期发育迟缓伴成年性神经退行性变：cars2相关线粒体疾病的扩展表型？
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-05-01 Epub Date: 2026-05-14 DOI: 10.1016/j.ymgme.2026.110003
Jennifer Harmon , Marisa Friederich , Johan Van Hove
{"title":"Early developmental delay with adult-onset neurodegeneration: An expanded phenotype of CARS2-related mitochondrial disease?","authors":"Jennifer Harmon , Marisa Friederich , Johan Van Hove","doi":"10.1016/j.ymgme.2026.110003","DOIUrl":"10.1016/j.ymgme.2026.110003","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 110003"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923470","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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