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A multi-omics map of DHDDS neurodegeneration reveals NMN as a targeted rescue strategy DHDDS神经退行性变的多组学图谱显示NMN是一种有针对性的拯救策略
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.2026.109943
Tamas Kozicz , Irena Muffles , Kristin Kantaukas , Georgia MacDonald , Kishore Garapati , Fred Vaz , Akhilesh Pandey , Ethan Perlstein , Eva Morava-
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引用次数: 0
Dietary strategies in the management of citrin deficiency 柠檬酸缺乏症的饮食管理策略
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.2026.109920
Ilona Ginevic
{"title":"Dietary strategies in the management of citrin deficiency","authors":"Ilona Ginevic","doi":"10.1016/j.ymgme.2026.109920","DOIUrl":"10.1016/j.ymgme.2026.109920","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109920"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923742","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
Biochemical improvement with chenodeoxycholic acid (CDCA) in patients with CTX exhibiting normal cholestanol 鹅去氧胆酸（CDCA）对胆固醇正常的CTX患者的生化改善
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.2026.109982
Andrea DeBarber , P. Barton Duell , Taylor K. Peabody , Henry Moore , Eugenia Gianos , Ahmed Calvo , Rana Dutta , Tiziano Pramparo , Dheepika Weerasinghe , Eric Dybbro
{"title":"Biochemical improvement with chenodeoxycholic acid (CDCA) in patients with CTX exhibiting normal cholestanol","authors":"Andrea DeBarber , P. Barton Duell , Taylor K. Peabody , Henry Moore , Eugenia Gianos , Ahmed Calvo , Rana Dutta , Tiziano Pramparo , Dheepika Weerasinghe , Eric Dybbro","doi":"10.1016/j.ymgme.2026.109982","DOIUrl":"10.1016/j.ymgme.2026.109982","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109982"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923746","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
Tividenofusp alfa treatment in a male sibling pair with non-neuronopathic mucopolysaccharidosis type II 对患有II型非神经性粘多糖病的男性兄弟姐妹的治疗
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.2026.109975
Irene Chang , Jacqueline Madden , Annie Sako , Jill Dwyer , Daniel Fertek , Adam Scheller , Sharon O'Byrne , Imanol Zubizarreta Arambarri , Peter Chin , Paul Harmatz
{"title":"Tividenofusp alfa treatment in a male sibling pair with non-neuronopathic mucopolysaccharidosis type II","authors":"Irene Chang , Jacqueline Madden , Annie Sako , Jill Dwyer , Daniel Fertek , Adam Scheller , Sharon O'Byrne , Imanol Zubizarreta Arambarri , Peter Chin , Paul Harmatz","doi":"10.1016/j.ymgme.2026.109975","DOIUrl":"10.1016/j.ymgme.2026.109975","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109975"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923785","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
A multi-center retrospective chart analysis identifying clinical, biochemical, and radiographic signatures of short-chain Enoyl CoA hydratase (ECHS1) deficiency 一项多中心回顾性图表分析，确定短链烯丙基辅酶A水合酶（ECHS1）缺乏的临床、生化和放射学特征
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.2026.109950
Christine Kong , Cesar Alves , Irina Anselm , Gerard T. Berry , Juan Francisco Cabello , Veronica Cornejo , Andrea Cortes Fernandez , Gregory Enns , Michael Gomez , Chad Haldeman-Englert , Suzanne Hollander , Micheil Innes , Emma Jannotta , Aaina Kochhar , Jessica Kopesky , Dora Lacarrubba , Austin Larson , Chung Lee , María Lezcano , Rachel Li , Rebecca Ganetzky
{"title":"A multi-center retrospective chart analysis identifying clinical, biochemical, and radiographic signatures of short-chain Enoyl CoA hydratase (ECHS1) deficiency","authors":"Christine Kong , Cesar Alves , Irina Anselm , Gerard T. Berry , Juan Francisco Cabello , Veronica Cornejo , Andrea Cortes Fernandez , Gregory Enns , Michael Gomez , Chad Haldeman-Englert , Suzanne Hollander , Micheil Innes , Emma Jannotta , Aaina Kochhar , Jessica Kopesky , Dora Lacarrubba , Austin Larson , Chung Lee , María Lezcano , Rachel Li , Rebecca Ganetzky","doi":"10.1016/j.ymgme.2026.109950","DOIUrl":"10.1016/j.ymgme.2026.109950","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109950"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923013","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
Cover 2 / Ed. Board 封面2 /编印板
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/S1096-7192(26)00404-X
{"title":"Cover 2 / Ed. Board","authors":"","doi":"10.1016/S1096-7192(26)00404-X","DOIUrl":"10.1016/S1096-7192(26)00404-X","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 110121"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923271","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
Coexisting MSUD and MRPS34-associated oxphos deficiency: Diagnostic pitfalls and a potential founder variant in a Puerto Rican neonate 共存的MSUD和mrps34相关的磷缺乏症：波多黎各新生儿的诊断缺陷和潜在的创始变异
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.2026.109976
Cristel Chapel-Crespo , Ledith Resto Melendez , Sulay Rivera , Yadhira Ramirez , Frances Velez Bartolomei
{"title":"Coexisting MSUD and MRPS34-associated oxphos deficiency: Diagnostic pitfalls and a potential founder variant in a Puerto Rican neonate","authors":"Cristel Chapel-Crespo , Ledith Resto Melendez , Sulay Rivera , Yadhira Ramirez , Frances Velez Bartolomei","doi":"10.1016/j.ymgme.2026.109976","DOIUrl":"10.1016/j.ymgme.2026.109976","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109976"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923347","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
Metabolic management during cardiac transplant in a female with heterozygosity for a pathogenic variant in the OTC gene OTC基因致病性变异杂合性女性心脏移植期间的代谢管理
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.2026.109984
Mariz Ebuen, Chung Lee
{"title":"Metabolic management during cardiac transplant in a female with heterozygosity for a pathogenic variant in the OTC gene","authors":"Mariz Ebuen, Chung Lee","doi":"10.1016/j.ymgme.2026.109984","DOIUrl":"10.1016/j.ymgme.2026.109984","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109984"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923362","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
Metformin therapy in adults with classic maple syrup urine disease 二甲双胍治疗成人经典枫糖浆尿病
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.2026.109924
Grace Meier
{"title":"Metformin therapy in adults with classic maple syrup urine disease","authors":"Grace Meier","doi":"10.1016/j.ymgme.2026.109924","DOIUrl":"10.1016/j.ymgme.2026.109924","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109924"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923375","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
Biochemical characterization of adults with MADD-like profiles: Distinguishing inherited disease from medication effects 成人mad样谱的生化特征：区分遗传疾病和药物效应
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.2026.109951
Ibrahim Khoja , Amy White , Jenny Thies , Dawn Peck , April Studinski , Freyr Johannsson , Dimitar Gavrilov , Devin Oglesbee , Silvia Tortorelli , Dietrich Matern , Patricia Hall , Matthew Schultz
{"title":"Biochemical characterization of adults with MADD-like profiles: Distinguishing inherited disease from medication effects","authors":"Ibrahim Khoja , Amy White , Jenny Thies , Dawn Peck , April Studinski , Freyr Johannsson , Dimitar Gavrilov , Devin Oglesbee , Silvia Tortorelli , Dietrich Matern , Patricia Hall , Matthew Schultz","doi":"10.1016/j.ymgme.2026.109951","DOIUrl":"10.1016/j.ymgme.2026.109951","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109951"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923388","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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