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Long-term morbidity and mortality following solid organ transplantation in MMUT - Methylmalonic acidemia 甲基丙二酸血症在MMUT实体器官移植后的长期发病率和死亡率
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.2026.109940
Irini Manoli , Jennifer Sloan , Oleg Shchelochkov , Carolina Galarreta-Aima , Kevin O'Brien , Wadih M. Zein , Laryssa Huryn , Jennifer Myles , Carol Van Ryzin , Susan Ferry , Charles P. Venditti
{"title":"Long-term morbidity and mortality following solid organ transplantation in MMUT - Methylmalonic acidemia","authors":"Irini Manoli , Jennifer Sloan , Oleg Shchelochkov , Carolina Galarreta-Aima , Kevin O'Brien , Wadih M. Zein , Laryssa Huryn , Jennifer Myles , Carol Van Ryzin , Susan Ferry , Charles P. Venditti","doi":"10.1016/j.ymgme.2026.109940","DOIUrl":"10.1016/j.ymgme.2026.109940","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109940"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923373","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
Diagnostic odyssey of patients with Leigh syndrome in the age of modern genomics 现代基因组学时代利氏综合征患者的诊断历程
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.2026.110005
Madeleine Hesselgesser, Eliza Gordon-Lipkin, Shannon Kruk, Peter McGuire
{"title":"Diagnostic odyssey of patients with Leigh syndrome in the age of modern genomics","authors":"Madeleine Hesselgesser, Eliza Gordon-Lipkin, Shannon Kruk, Peter McGuire","doi":"10.1016/j.ymgme.2026.110005","DOIUrl":"10.1016/j.ymgme.2026.110005","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 110005"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923385","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
Pegtibatinase, an investigational enzyme replacement therapy for classical homocystinuria (HCU): Design of the harmony and ensemble phase 3 studies Pegtibatinase，一种用于经典同型半胱氨酸尿（HCU）的酶替代疗法：和谐和集合3期研究的设计
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.2026.109991
Jaya Ganesh , Tawfeg Ben Omran , Can Ficicioglu , Francois Maillot , Harvey Levy , Stephan vom Dahl , Cheryl Wong Po Foo , Janet Thomas
{"title":"Pegtibatinase, an investigational enzyme replacement therapy for classical homocystinuria (HCU): Design of the harmony and ensemble phase 3 studies","authors":"Jaya Ganesh , Tawfeg Ben Omran , Can Ficicioglu , Francois Maillot , Harvey Levy , Stephan vom Dahl , Cheryl Wong Po Foo , Janet Thomas","doi":"10.1016/j.ymgme.2026.109991","DOIUrl":"10.1016/j.ymgme.2026.109991","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109991"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923426","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
Newborn screening for inborn errors of metabolism in Puerto Rico: Barriers and opportunities 波多黎各先天性代谢错误的新生儿筛查：障碍和机会
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.2026.109915
Cristel Chapel-Crespo , Sulay Rivera , Ledith Resto Melendez
{"title":"Newborn screening for inborn errors of metabolism in Puerto Rico: Barriers and opportunities","authors":"Cristel Chapel-Crespo , Sulay Rivera , Ledith Resto Melendez","doi":"10.1016/j.ymgme.2026.109915","DOIUrl":"10.1016/j.ymgme.2026.109915","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109915"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923250","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
Structure-guided in situ analysis of disease-causing mitochondrial complex I mutations directly in patient cells 直接在患者细胞中引起疾病的线粒体复合体I突变的结构引导原位分析
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.2026.109938
Jiying Ning , Tabitha Banks-Tibbs , Kaitlyn Bloom , Eva Martin-Solana , Jill Glausier , Reva Prabhune , Al-Walid Mohsen , Jerry Vockley , Zachary Freyberg
{"title":"Structure-guided in situ analysis of disease-causing mitochondrial complex I mutations directly in patient cells","authors":"Jiying Ning , Tabitha Banks-Tibbs , Kaitlyn Bloom , Eva Martin-Solana , Jill Glausier , Reva Prabhune , Al-Walid Mohsen , Jerry Vockley , Zachary Freyberg","doi":"10.1016/j.ymgme.2026.109938","DOIUrl":"10.1016/j.ymgme.2026.109938","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109938"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923343","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
Metabolomic, lipidomic, and glycomic analysis of a human cell model of Krabbe disease reveal treatable deficits in glycosylation and serine-ceramide metabolism 克拉布病人类细胞模型的代谢组学、脂质组学和糖组学分析揭示了糖基化和丝氨酸-神经酰胺代谢的可治疗缺陷
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.2026.109936
Rodrigo Starosta , Hannah Saeger , Johanna ten Hoeve , S.J. Kim , Johan L.K. Van Hove , Wenyue Zhang , Xuntian Jiang , Miao He , Neal Bennett
{"title":"Metabolomic, lipidomic, and glycomic analysis of a human cell model of Krabbe disease reveal treatable deficits in glycosylation and serine-ceramide metabolism","authors":"Rodrigo Starosta , Hannah Saeger , Johanna ten Hoeve , S.J. Kim , Johan L.K. Van Hove , Wenyue Zhang , Xuntian Jiang , Miao He , Neal Bennett","doi":"10.1016/j.ymgme.2026.109936","DOIUrl":"10.1016/j.ymgme.2026.109936","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109936"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923579","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
Evaluating prefrontal cortex hemodynamics via fNIRS in adults with Urea Cycle Disorders (UCD) during simulated driving tasks 通过fNIRS评估尿素循环障碍（UCD）成人在模拟驾驶任务中的前额叶皮层血流动力学
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.2026.109999
Andrea Gropman, Kosar Khaksari
{"title":"Evaluating prefrontal cortex hemodynamics via fNIRS in adults with Urea Cycle Disorders (UCD) during simulated driving tasks","authors":"Andrea Gropman, Kosar Khaksari","doi":"10.1016/j.ymgme.2026.109999","DOIUrl":"10.1016/j.ymgme.2026.109999","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109999"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923609","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 mitochondrial diabetes current management practices among a large primary mitochondrial disease cohort 线粒体糖尿病的特征，目前在一个大型原发性线粒体疾病队列中的管理实践
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.2026.110000
Herodes Guzman , Elizabeth McCormick , Laura MacMullen , Ibrahim George-Sankoh , Katelynn Stanley , Amy Goldstein , Zarazuela Zolkipli-Cunningham , Matthew Demczko , Sonal Sharma , Adam Naj , Rui Xiao , Marni Falk , Shana McCormack , Rebecca Ganetzky
{"title":"Characterization of mitochondrial diabetes current management practices among a large primary mitochondrial disease cohort","authors":"Herodes Guzman , Elizabeth McCormick , Laura MacMullen , Ibrahim George-Sankoh , Katelynn Stanley , Amy Goldstein , Zarazuela Zolkipli-Cunningham , Matthew Demczko , Sonal Sharma , Adam Naj , Rui Xiao , Marni Falk , Shana McCormack , Rebecca Ganetzky","doi":"10.1016/j.ymgme.2026.110000","DOIUrl":"10.1016/j.ymgme.2026.110000","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 110000"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923610","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
Developing and deploying personalized gene-editing therapies 开发和部署个性化的基因编辑疗法
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.2026.109913
Rebecca Ahrens-Nicklas, Kiran Musunuru
{"title":"Developing and deploying personalized gene-editing therapies","authors":"Rebecca Ahrens-Nicklas, Kiran Musunuru","doi":"10.1016/j.ymgme.2026.109913","DOIUrl":"10.1016/j.ymgme.2026.109913","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109913"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923671","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
200 and counting: Identification of new CDG types, biomarkers, and basic science insights 200和计数：鉴定新的CDG类型，生物标志物，和基础科学见解
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.2026.109919
Hudson Freeze
{"title":"200 and counting: Identification of new CDG types, biomarkers, and basic science insights","authors":"Hudson Freeze","doi":"10.1016/j.ymgme.2026.109919","DOIUrl":"10.1016/j.ymgme.2026.109919","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109919"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923741","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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