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Erratum to "Glutaminase deficiency provides insight to the role of glutamine accumulation and neurotoxicity" [Mol Genet Metab. (2026) Vol. 148 Issue 2 109906]. 对“谷氨酰胺酶缺乏症提供了谷氨酰胺积累和神经毒性作用的见解”的勘误[Mol Genet Metab]。（2026） Vol. 148 Issue 2[109906]。
IF 3.5 2区 生物学
Molecular genetics and metabolism Pub Date : 2026-04-06 DOI: 10.1016/j.ymgme.2026.110109
André B P van Kuilenburg, Hanna Mandel, Tameemi Abdalla Moady, Ronen Sloma, Ayalla Fedida, René Leen, Judith Jansen-Meijer, Tamar Paperna, Vered Fleisher Sheffer, Doreen Dobritzsch, Ori Hochwald, Nicole N van der Wel, Anita E Grootemaat, Semyon Chulsky, Mika S Rootman, Ayelet Eran, Maha A Yousef, April Dinwiddie, Joshua Manor, Clara D M van Karnebeek, Limor Kalfon, Tova Hershkovitz, Galit Tal, Tzipora C Falik Zaccai
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引用次数: 0
A unique case of failure-to-thrive in infancy: A case study 一个独特的婴儿成长失败的案例：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.2026.109793
P.B. Meachum , L.A. Umaña , L.P. Mackay
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引用次数: 0
Increased protein intake improves clinical symptoms in a pediatric patient with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case study 增加蛋白质摄入可改善长链3-羟基酰基辅酶a脱氢酶缺乏症儿科患者的临床症状：一项病例研究
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.2026.109838
G. Torrecampo , C. Greene , S. Saenz-Ayala , S. Roulston
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引用次数: 0
Evaluating utilization and effectiveness of clinic guide and patient educational materials for introducing food allergens to infants with aminoacidopathies 评价临床指南和患者教育材料在向氨基酸病婴儿介绍食物过敏原方面的应用和效果
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.2026.109810
C. Suares , C. Manalo , S. Roberts
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引用次数: 0
Dietary protein intake variability in individuals with phenylketonuria: Analysis of baseline PRISM data 苯丙酮尿症患者饮食蛋白质摄入的变异性：PRISM基线数据分析
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.2026.109818
B. Wardley , J. Hansen , S. Rose , N.R.M. Schwartz , M. Gillingham
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引用次数: 0
Postprandial glycaemic, amino acid, and appetite hormone responses to CGMP – Implications for PKU 餐后血糖、氨基酸和食欲激素对CGMP的反应-对PKU的影响
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.2026.109778
C. Rodrigues , D. Jácome-Pacheco , I.B. Mota , S. Ismael , G. Maia-Santos , T. Noronha , M.J. Almeida , I. Castela , J. Santos , C. Calhau , J.R. Araújo , A. MacDonald , A. Faria , J.C. Rocha
{"title":"Postprandial glycaemic, amino acid, and appetite hormone responses to CGMP – Implications for PKU","authors":"C. Rodrigues , D. Jácome-Pacheco , I.B. Mota , S. Ismael , G. Maia-Santos , T. Noronha , M.J. Almeida , I. Castela , J. Santos , C. Calhau , J.R. Araújo , A. MacDonald , A. Faria , J.C. Rocha","doi":"10.1016/j.ymgme.2026.109778","DOIUrl":"10.1016/j.ymgme.2026.109778","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109778"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720687","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
Sepiapterin in clinical practice: A single center experience from clinic protocol development to patient response sepapterin在临床实践中的应用：从临床方案开发到患者反应的单中心经验
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.2026.109779
K. Clarke , S. Hollander , S. Ruberg , S. Sacharow
{"title":"Sepiapterin in clinical practice: A single center experience from clinic protocol development to patient response","authors":"K. Clarke , S. Hollander , S. Ruberg , S. Sacharow","doi":"10.1016/j.ymgme.2026.109779","DOIUrl":"10.1016/j.ymgme.2026.109779","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109779"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720688","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
Pyridoxine-dependent epilepsy patients managed with GA-1 infant and up-age formula: Two case reports GA-1婴幼儿配方奶粉治疗吡哆醇依赖性癫痫患者：2例报告
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.2026.109817
R. Powers , S. Gaughan
{"title":"Pyridoxine-dependent epilepsy patients managed with GA-1 infant and up-age formula: Two case reports","authors":"R. Powers , S. Gaughan","doi":"10.1016/j.ymgme.2026.109817","DOIUrl":"10.1016/j.ymgme.2026.109817","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109817"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720803","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
Amylose:amylopectin ratio and digestibility of two cornstarch brands as predictors of glucose release of patients with glycogen storage diseases 两种玉米淀粉品牌的直链淀粉：支链淀粉比率和消化率作为糖原储存病患者葡萄糖释放的预测因子
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.2026.109825
Z. Olivares-Sandoval , A.L. Cota-Ojeda , A.M. Calderón-de-la Barca
{"title":"Amylose:amylopectin ratio and digestibility of two cornstarch brands as predictors of glucose release of patients with glycogen storage diseases","authors":"Z. Olivares-Sandoval , A.L. Cota-Ojeda , A.M. Calderón-de-la Barca","doi":"10.1016/j.ymgme.2026.109825","DOIUrl":"10.1016/j.ymgme.2026.109825","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109825"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720226","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
Twenty years of cobalamin C: Changes in treatment, improvement in neurocognitive outcomes, and need for continued vigilance 钴胺素C治疗20年：治疗改变，神经认知预后改善，需要继续保持警惕
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.2026.109840
J.G. Myles , M. Schoenfeld , I. Manoli , J.L. Sloan , L. Joseph , A. Thurm , C. Van Ryzin , C. Galarreta Aima , S. Ferry , C.P. Venditti
{"title":"Twenty years of cobalamin C: Changes in treatment, improvement in neurocognitive outcomes, and need for continued vigilance","authors":"J.G. Myles , M. Schoenfeld , I. Manoli , J.L. Sloan , L. Joseph , A. Thurm , C. Van Ryzin , C. Galarreta Aima , S. Ferry , C.P. Venditti","doi":"10.1016/j.ymgme.2026.109840","DOIUrl":"10.1016/j.ymgme.2026.109840","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 ","pages":"Article 109840"},"PeriodicalIF":3.5,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147720330","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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