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Beyond restriction: Assessing dietary intake and quality in children with glutaric aciduria type 1 (GA-1) after age 6 超越限制：评估6岁后戊二酸尿1型（GA-1）儿童的饮食摄入和质量
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-04-01 Epub Date: 2026-04-21 DOI: 10.1016/j.ymgme.2026.109774
B. Allender , J. Brockett , M. Evans
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引用次数: 0
Triheptanoin for the treatment of LC-FAOD: A cohort study Triheptanoin治疗lc - fad：一项队列研究
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-04-01 Epub Date: 2026-04-21 DOI: 10.1016/j.ymgme.2026.109830
B.F. Franceschetto , A.C. de Oliveira , L. Farret , C. Pugliese , C. Bueno , C. Fischinger , I.V.D. Schwartz , in name of the LC-FAOD Brazilian Study Group
{"title":"Triheptanoin for the treatment of LC-FAOD: A cohort study","authors":"B.F. Franceschetto , A.C. de Oliveira , L. Farret , C. Pugliese , C. Bueno , C. Fischinger , I.V.D. Schwartz , in name of the LC-FAOD Brazilian Study Group","doi":"10.1016/j.ymgme.2026.109830","DOIUrl":"10.1016/j.ymgme.2026.109830","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109830"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720734","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
Program for the 2026 GMDI educational conference 2026年GMDI教育会议计划
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-04-01 Epub Date: 2026-04-21 DOI: 10.1016/j.ymgme.2026.109868
{"title":"Program for the 2026 GMDI educational conference","authors":"","doi":"10.1016/j.ymgme.2026.109868","DOIUrl":"10.1016/j.ymgme.2026.109868","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109868"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720766","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
Ketogenic diet therapy in pyruvate dehydrogenase deficiency (PDHD): Global clinical practices from literature review and survey data 生酮饮食治疗丙酮酸脱氢酶缺乏症（PDHD）：来自文献回顾和调查数据的全球临床实践
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-04-01 Epub Date: 2026-04-21 DOI: 10.1016/j.ymgme.2026.109770
B. Allender , S. Madsen , R. Blackford , T. Bollard , A. Comerford , M. Johnson , N. Schoeler , R. Sinha , L. Vanatta , V. Whiteley
{"title":"Ketogenic diet therapy in pyruvate dehydrogenase deficiency (PDHD): Global clinical practices from literature review and survey data","authors":"B. Allender , S. Madsen , R. Blackford , T. Bollard , A. Comerford , M. Johnson , N. Schoeler , R. Sinha , L. Vanatta , V. Whiteley","doi":"10.1016/j.ymgme.2026.109770","DOIUrl":"10.1016/j.ymgme.2026.109770","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109770"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720767","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
PKU carriers exhibit altered mood and cognition in response to L-phenylalanine compared to non-carriers: The Phe for Me trial 与非PKU携带者相比，PKU携带者对l -苯丙氨酸的反应表现出情绪和认知的改变：Phe for Me试验
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-04-01 Epub Date: 2026-04-21 DOI: 10.1016/j.ymgme.2026.109787
S. Khan , M. Fennell , M. Fallah , H. Jordan , Z. Kroezen , P. Britz-McKibbin , P.J. Millar , R.R. Heister , M.-C. Vohl , J. Seabrook , J.R. Keathley
{"title":"PKU carriers exhibit altered mood and cognition in response to L-phenylalanine compared to non-carriers: The Phe for Me trial","authors":"S. Khan , M. Fennell , M. Fallah , H. Jordan , Z. Kroezen , P. Britz-McKibbin , P.J. Millar , R.R. Heister , M.-C. Vohl , J. Seabrook , J.R. Keathley","doi":"10.1016/j.ymgme.2026.109787","DOIUrl":"10.1016/j.ymgme.2026.109787","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109787"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720799","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 dietary intakes of phenylketonuria patients participating in the PHEFREE rare disease consortium and the PKU patient registry 参与PHEFREE罕见病联盟和PKU患者登记的苯丙酮尿患者饮食摄入量的差异
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-04-01 Epub Date: 2026-04-21 DOI: 10.1016/j.ymgme.2026.109791
K. McQueen , G. Arnold , E. Sim , H. Morotti , C. Harding , E. Jurecki
{"title":"Differences in dietary intakes of phenylketonuria patients participating in the PHEFREE rare disease consortium and the PKU patient registry","authors":"K. McQueen , G. Arnold , E. Sim , H. Morotti , C. Harding , E. Jurecki","doi":"10.1016/j.ymgme.2026.109791","DOIUrl":"10.1016/j.ymgme.2026.109791","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109791"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720827","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
Seeing the whole picture - Caremapping as a self-reflective tool for patients living with inborn errors of metabolism 全局观——护理图作为一种自我反思的工具，为患有先天性代谢错误的患者提供帮助
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-04-01 Epub Date: 2026-04-21 DOI: 10.1016/j.ymgme.2026.109785
S. Gurung , A. Rosenthal , A. Kenneson , R.B. Blair , S.V. Nath , R.H. Singh
{"title":"Seeing the whole picture - Caremapping as a self-reflective tool for patients living with inborn errors of metabolism","authors":"S. Gurung , A. Rosenthal , A. Kenneson , R.B. Blair , S.V. Nath , R.H. Singh","doi":"10.1016/j.ymgme.2026.109785","DOIUrl":"10.1016/j.ymgme.2026.109785","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109785"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720326","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
Nutritional management of a patient with CTLN1, improved NFPE and beyond: A case study 一名CTLN1患者的营养管理，改善NFPE及其他：一个案例研究
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-04-01 Epub Date: 2026-04-21 DOI: 10.1016/j.ymgme.2026.109798
J.L. Raabe
{"title":"Nutritional management of a patient with CTLN1, improved NFPE and beyond: A case study","authors":"J.L. Raabe","doi":"10.1016/j.ymgme.2026.109798","DOIUrl":"10.1016/j.ymgme.2026.109798","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109798"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720327","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
Facilitating weight lose in adults with classic maple syrup urine disease using metformin 使用二甲双胍促进患有经典枫糖浆尿病的成年人减肥
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-04-01 Epub Date: 2026-04-21 DOI: 10.1016/j.ymgme.2026.109801
D.L. Robinson , A. Rodrigues , E. Sweigart , M. Kregel , J. Williamson , A. Koehler , S. Scheckgast , C. Forry , K.W. Brigatti , K. Strauss , G.L. Meier
{"title":"Facilitating weight lose in adults with classic maple syrup urine disease using metformin","authors":"D.L. Robinson , A. Rodrigues , E. Sweigart , M. Kregel , J. Williamson , A. Koehler , S. Scheckgast , C. Forry , K.W. Brigatti , K. Strauss , G.L. Meier","doi":"10.1016/j.ymgme.2026.109801","DOIUrl":"10.1016/j.ymgme.2026.109801","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109801"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720426","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 implementation of sepiapterin in phenylketonuria: Dietary outcomes from a high-volume metabolic clinic 苯丙酮尿的临床应用：来自高容量代谢临床的饮食结果
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-04-01 Epub Date: 2026-04-21 DOI: 10.1016/j.ymgme.2026.109775
E. Vucko , K. Becker , S. Schirmacher , B. Kurkjian , M. Smith , G. McGrath , S. Shim , A. Kozek
{"title":"Clinical implementation of sepiapterin in phenylketonuria: Dietary outcomes from a high-volume metabolic clinic","authors":"E. Vucko , K. Becker , S. Schirmacher , B. Kurkjian , M. Smith , G. McGrath , S. Shim , A. Kozek","doi":"10.1016/j.ymgme.2026.109775","DOIUrl":"10.1016/j.ymgme.2026.109775","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109775"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720798","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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