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Advancing biochemical diagnostics for mitochondrial diseases through a clinically validated LC-MS/MS ketone body panel 通过临床验证的LC-MS/MS酮体面板推进线粒体疾病的生化诊断
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.2026.109948
Robin Kemperman, James Peterson, Stephen Master, Rebecca Ganetzky
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引用次数: 0
Metabolic medicine on the island: Systemic gaps in screening, diagnosis and treatment 岛上的代谢医学：筛查、诊断和治疗的系统性差距
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.2026.109931
Frances Velez-Bartolomei
{"title":"Metabolic medicine on the island: Systemic gaps in screening, diagnosis and treatment","authors":"Frances Velez-Bartolomei","doi":"10.1016/j.ymgme.2026.109931","DOIUrl":"10.1016/j.ymgme.2026.109931","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109931"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923402","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
Abstracts for Short Oral Presentations 简短口头报告摘要
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.2026.109932
{"title":"Abstracts for Short Oral Presentations","authors":"","doi":"10.1016/j.ymgme.2026.109932","DOIUrl":"10.1016/j.ymgme.2026.109932","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109932"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923403","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
Circulating renal biomarkers in propionic acidemia and methylmalonic acidemia: Indicators of early kidney involvement and potential for monitoring disease progression 丙酸血症和甲基丙二酸血症的循环肾脏生物标志物：早期肾脏受累的指标和监测疾病进展的潜力
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.2026.109990
Carolina Galarreta-Aima, Irini Manoli, Oleg Shchelochkov, Jennifer Sloan, Lina Magid, Abigael Gebremariam, Susan Ferry, Carol Van Ryzin, Charles Venditti
{"title":"Circulating renal biomarkers in propionic acidemia and methylmalonic acidemia: Indicators of early kidney involvement and potential for monitoring disease progression","authors":"Carolina Galarreta-Aima, Irini Manoli, Oleg Shchelochkov, Jennifer Sloan, Lina Magid, Abigael Gebremariam, Susan Ferry, Carol Van Ryzin, Charles Venditti","doi":"10.1016/j.ymgme.2026.109990","DOIUrl":"10.1016/j.ymgme.2026.109990","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109990"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923425","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
Development of a stable isotope flux assay to diagnose primary TCA cycle disorders 稳定同位素通量测定诊断原发性TCA循环紊乱的发展
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.2026.109965
Emma Bethon , Robin Kemperman , Monica Madya , Sheila Clever , Shubhnita Singh , Steven Master , Rebecca Ganetzky
{"title":"Development of a stable isotope flux assay to diagnose primary TCA cycle disorders","authors":"Emma Bethon , Robin Kemperman , Monica Madya , Sheila Clever , Shubhnita Singh , Steven Master , Rebecca Ganetzky","doi":"10.1016/j.ymgme.2026.109965","DOIUrl":"10.1016/j.ymgme.2026.109965","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109965"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923537","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
Biallelic variants in VPS34 are associated with a novel pediatric neurodegenerative disorder in the spectrum of NBIA VPS34的双等位基因变异与NBIA谱系中的一种新型儿科神经退行性疾病有关
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.2026.109935
Leonardo Ramos-Rodriguez , Paulo de Oliveira , Holly Dubbs , Cesar Alves , Xinying Hong , Xilma Ortiz-Gonzalez
{"title":"Biallelic variants in VPS34 are associated with a novel pediatric neurodegenerative disorder in the spectrum of NBIA","authors":"Leonardo Ramos-Rodriguez , Paulo de Oliveira , Holly Dubbs , Cesar Alves , Xinying Hong , Xilma Ortiz-Gonzalez","doi":"10.1016/j.ymgme.2026.109935","DOIUrl":"10.1016/j.ymgme.2026.109935","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109935"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923583","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
Clinical and neurophysiologic studies of SSADHD deficiency, a disorder of GABA metabolism 氨基丁酸代谢障碍SSADHD缺乏症的临床和神经生理学研究
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.2026.109927
Phillip Pearl
{"title":"Clinical and neurophysiologic studies of SSADHD deficiency, a disorder of GABA metabolism","authors":"Phillip Pearl","doi":"10.1016/j.ymgme.2026.109927","DOIUrl":"10.1016/j.ymgme.2026.109927","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109927"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923632","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
On the novel insights into the pathophysiology and treatment of myopathy in inherited Phosphoglucomutase 1 deficiency (PGM1-CDG) 遗传性磷酸葡萄糖糖化酶1缺乏症（PGM1-CDG）肌病病理生理及治疗的新认识
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.2026.109953
Bijina Balakrishnan, Kent Lai, Olivia Bellagamba, Sandhya Senthilkumar
{"title":"On the novel insights into the pathophysiology and treatment of myopathy in inherited Phosphoglucomutase 1 deficiency (PGM1-CDG)","authors":"Bijina Balakrishnan, Kent Lai, Olivia Bellagamba, Sandhya Senthilkumar","doi":"10.1016/j.ymgme.2026.109953","DOIUrl":"10.1016/j.ymgme.2026.109953","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109953"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923011","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 in myo-inositol levels in trans-mitochondrial cybrids harboring the MT-ATP6 missense mutations M.8993 T > C and M.8993 T > G 携带MT-ATP6错义突变M.8993 T > C和M.8993 T > G的跨线粒体细胞系中肌醇水平的差异
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.2026.109973
Alan Cahill , Dasi Long , Jie Chen , Rebecca Ganetzky
{"title":"Differences in myo-inositol levels in trans-mitochondrial cybrids harboring the MT-ATP6 missense mutations M.8993 T > C and M.8993 T > G","authors":"Alan Cahill , Dasi Long , Jie Chen , Rebecca Ganetzky","doi":"10.1016/j.ymgme.2026.109973","DOIUrl":"10.1016/j.ymgme.2026.109973","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109973"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923015","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
Mechanisms linking metabolic perturbations to cancer 代谢紊乱与癌症之间的联系机制
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.2026.109916
Ralph DeBerardinis
{"title":"Mechanisms linking metabolic perturbations to cancer","authors":"Ralph DeBerardinis","doi":"10.1016/j.ymgme.2026.109916","DOIUrl":"10.1016/j.ymgme.2026.109916","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109916"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923251","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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