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Addressing cerebral edema after resolution of hyperleucinemia via nutrition management in a classical MSUD patient: A case study 通过营养管理解决典型MSUD患者高白蛋白血症后脑水肿：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.2026.109776
S. Bovino , A. Cohen , J. Fraser , E. Leon , N. Mickle , E. MacLeod
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引用次数: 0
Development of a novel learning experience for metabolic dietitians: The continuing journey of one committee 为代谢营养师开发一种新的学习经验：一个委员会的持续旅程
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.2026.109844
J.J. Kopesky , L. Martell , S. Mofidi , T. Pedro , D. Ruebel , C. Suares
{"title":"Development of a novel learning experience for metabolic dietitians: The continuing journey of one committee","authors":"J.J. Kopesky , L. Martell , S. Mofidi , T. Pedro , D. Ruebel , C. Suares","doi":"10.1016/j.ymgme.2026.109844","DOIUrl":"10.1016/j.ymgme.2026.109844","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109844"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720334","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
Identifying practice gaps and opportunities in dietitian-led management of homocystinuria: nutrition lessons from three cases 确定以营养学家为主导的同型半胱氨酸尿管理的实践差距和机会：来自三个案例的营养教训
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.2026.109804
I.E. Scovil , J. Strosahl , R.H. Singh
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引用次数: 0
Blood phenylalanine measurement: A comparison between plasma vs. dried blood spot (DBS) 血液苯丙氨酸测定：血浆与干血斑（DBS）的比较
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.2026.109796
S.V. Nath , C. Lu , R.H. Singh
{"title":"Blood phenylalanine measurement: A comparison between plasma vs. dried blood spot (DBS)","authors":"S.V. Nath , C. Lu , R.H. Singh","doi":"10.1016/j.ymgme.2026.109796","DOIUrl":"10.1016/j.ymgme.2026.109796","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109796"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720504","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 randomized, double-blind, placebo-controlled, phase 3, efficacy and safety trial of repinatrabit in adults with phenylketonuria: Study design 一项随机、双盲、安慰剂对照、iii期、有效性和安全性试验的repinatrabit成人苯丙酮尿症：研究设计
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.2026.109816
F. Leal-Pardinas , C.O. Harding , N. Longo , M. McNutt , A.C. Muntau , R. Singh , T. Vaughn , H. Schluep , W. Li , T. Davis , J. Idso
{"title":"A randomized, double-blind, placebo-controlled, phase 3, efficacy and safety trial of repinatrabit in adults with phenylketonuria: Study design","authors":"F. Leal-Pardinas , C.O. Harding , N. Longo , M. McNutt , A.C. Muntau , R. Singh , T. Vaughn , H. Schluep , W. Li , T. Davis , J. Idso","doi":"10.1016/j.ymgme.2026.109816","DOIUrl":"10.1016/j.ymgme.2026.109816","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109816"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720659","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
How good is blood Phe control in maternal PKU in Europe: Results from 102 pregnancies 欧洲102例妊娠的产妇PKU的血液Phe控制有多好
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.2026.109773
A. Pinto , K. Ahring , M.F. Almeida , C. Ashmore , S. Bailey , A. Bélanger-Quintana , A. Burlina , D. Cole , C. Dale , A. Daly , E. van Dam , C. Dawson , S. Evans , S. Firman , S. Ford , D. Green , T. Hiwot , Y. Hoekstra , S. Howe , F. Ilgaz , A. MacDonald
{"title":"How good is blood Phe control in maternal PKU in Europe: Results from 102 pregnancies","authors":"A. Pinto , K. Ahring , M.F. Almeida , C. Ashmore , S. Bailey , A. Bélanger-Quintana , A. Burlina , D. Cole , C. Dale , A. Daly , E. van Dam , C. Dawson , S. Evans , S. Firman , S. Ford , D. Green , T. Hiwot , Y. Hoekstra , S. Howe , F. Ilgaz , A. MacDonald","doi":"10.1016/j.ymgme.2026.109773","DOIUrl":"10.1016/j.ymgme.2026.109773","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109773"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720716","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
Consistent dietary intake over time among participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency (TFPD) 长链3-羟基酰基辅酶a脱氢酶缺乏症(LCHADD)/三功能蛋白缺乏症（TFPD）患者的长期一致饮食摄入量
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.2026.109831
A. Gregor , E. Sim , A. Riemenschneider , M.B. Gillingham
{"title":"Consistent dietary intake over time among participants with long-chain 3-hydroxy-acylCoA dehydrogenase deficiency (LCHADD)/trifunctional protein deficiency (TFPD)","authors":"A. Gregor , E. Sim , A. Riemenschneider , M.B. Gillingham","doi":"10.1016/j.ymgme.2026.109831","DOIUrl":"10.1016/j.ymgme.2026.109831","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109831"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720735","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
Optimizing pregnancy outcomes in patients with inborn errors of metabolism: Not overlooking prenatal alcohol exposure 优化先天性代谢错误患者的妊娠结局：不要忽视产前酒精暴露
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.2026.109841
T.I. Breunig , L.M. Obernolte
{"title":"Optimizing pregnancy outcomes in patients with inborn errors of metabolism: Not overlooking prenatal alcohol exposure","authors":"T.I. Breunig , L.M. Obernolte","doi":"10.1016/j.ymgme.2026.109841","DOIUrl":"10.1016/j.ymgme.2026.109841","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109841"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720331","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
Dietary management of intermediate and intermittent maple syrup urine disease: A case series 中期和间歇性枫糖浆尿病的饮食管理：一个病例系列
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.2026.109802
C. Rombough , S. St. James , A. Pender , L. Nagy , H. Schmidt , M. Kozenko , S. Shurrab , L. Aljouda , E. Phillips , M. Lines
{"title":"Dietary management of intermediate and intermittent maple syrup urine disease: A case series","authors":"C. Rombough , S. St. James , A. Pender , L. Nagy , H. Schmidt , M. Kozenko , S. Shurrab , L. Aljouda , E. Phillips , M. Lines","doi":"10.1016/j.ymgme.2026.109802","DOIUrl":"10.1016/j.ymgme.2026.109802","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109802"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720427","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
Heart failure reversal with triheptanoin in a patient with late diagnosed TFP 晚期TFP患者使用三庚酸逆转心力衰竭
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.2026.109835
E. Ramsey , C. Hall
{"title":"Heart failure reversal with triheptanoin in a patient with late diagnosed TFP","authors":"E. Ramsey , C. Hall","doi":"10.1016/j.ymgme.2026.109835","DOIUrl":"10.1016/j.ymgme.2026.109835","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109835"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720429","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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