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Corticosteroid therapy in patients with proximal urea cycle disorders presenting with post-infectious encephalitis: Lessons from two cases 以感染后脑炎为表现的近端尿素循环障碍患者的皮质类固醇治疗：两例的经验教训
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.2026.109963
Maria Barros Perez , Kara Simpson , Erin MacLeod , Andrea Gropman , Tom Kallay , Pranoot Tanpaiboon , Nicola Longo , Ryan Peretz , Nicholas Ah. Mew
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引用次数: 0
Patient outcomes on sepiapterin therapy: Experience of a single PKU treatment center 患者对sepapterin治疗的结果：单个PKU治疗中心的经验
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.2026.109959
Katherine Arduini, Anne Kozek, Karen Becker, Sarah Schirmacher, Gabrielle McGrath, Brooke Kurkjian, Madison Smith, Soo Shim, Andrea Paras, Erika Vucko
{"title":"Patient outcomes on sepiapterin therapy: Experience of a single PKU treatment center","authors":"Katherine Arduini, Anne Kozek, Karen Becker, Sarah Schirmacher, Gabrielle McGrath, Brooke Kurkjian, Madison Smith, Soo Shim, Andrea Paras, Erika Vucko","doi":"10.1016/j.ymgme.2026.109959","DOIUrl":"10.1016/j.ymgme.2026.109959","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109959"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923539","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
Utilization of an epic dashboard for long-term follow-up of patients indentified by newborn screening 利用史诗仪表板对新生儿筛查确定的患者进行长期随访
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.2026.109944
Erica Wright , Lauren Barringer , Marci Sontag
{"title":"Utilization of an epic dashboard for long-term follow-up of patients indentified by newborn screening","authors":"Erica Wright , Lauren Barringer , Marci Sontag","doi":"10.1016/j.ymgme.2026.109944","DOIUrl":"10.1016/j.ymgme.2026.109944","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109944"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923581","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
The impact of mucopolysaccharidosis VII (MPS VII) on the musculoskeletal system: Results from the MPS VII disease monitoring program (DMP) 粘多糖病VII （MPS VII）对肌肉骨骼系统的影响：来自MPS VII疾病监测程序（DMP）的结果
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.2026.109997
Christina Lee Grant , Antonio Gonzalez-Meneses , Raymond Wang , Roberto Giugliani , Erika Vucko , Maurizio Scarpa , Terry Kho , Ans Van der Ploeg , Esmeralda Martins , Consuelo Durand , Celia Hoebeke , Joel Hetzer , Jeanne Cohen , J. Lawrence Merritt II
{"title":"The impact of mucopolysaccharidosis VII (MPS VII) on the musculoskeletal system: Results from the MPS VII disease monitoring program (DMP)","authors":"Christina Lee Grant , Antonio Gonzalez-Meneses , Raymond Wang , Roberto Giugliani , Erika Vucko , Maurizio Scarpa , Terry Kho , Ans Van der Ploeg , Esmeralda Martins , Consuelo Durand , Celia Hoebeke , Joel Hetzer , Jeanne Cohen , J. Lawrence Merritt II","doi":"10.1016/j.ymgme.2026.109997","DOIUrl":"10.1016/j.ymgme.2026.109997","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109997"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923588","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 genetics in the omics era: We are better together 组学时代的生化遗传学：我们在一起会更好
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.2026.109930
Ashlee Stiles
{"title":"Biochemical genetics in the omics era: We are better together","authors":"Ashlee Stiles","doi":"10.1016/j.ymgme.2026.109930","DOIUrl":"10.1016/j.ymgme.2026.109930","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109930"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923683","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 dysfunction and misglycosylation converge to drive multiple anomalies in a congenital disorder of glycosylation 代谢功能障碍和错误糖基化汇聚驱动多种异常先天性糖基化障碍
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.2026.109918
Heather Flanagan-Steet , Khoanh Giong , Silvia Radenkovic , Tamas Kozicz , Eva Morava , Richard Steet
{"title":"Metabolic dysfunction and misglycosylation converge to drive multiple anomalies in a congenital disorder of glycosylation","authors":"Heather Flanagan-Steet , Khoanh Giong , Silvia Radenkovic , Tamas Kozicz , Eva Morava , Richard Steet","doi":"10.1016/j.ymgme.2026.109918","DOIUrl":"10.1016/j.ymgme.2026.109918","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109918"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923740","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
GLP-1 receptor agonist usage for obesity in medium chain acyl-COA dehydrogenase deficiency GLP-1受体激动剂用于中链酰基辅酶a脱氢酶缺乏症的肥胖
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.2026.109981
Olivia D'Annibale , Shaindy Grunwald , Kristin Stackpole , Amy Taylor , Stavra Xanthakos , Benjamin Cocanougher
{"title":"GLP-1 receptor agonist usage for obesity in medium chain acyl-COA dehydrogenase deficiency","authors":"Olivia D'Annibale , Shaindy Grunwald , Kristin Stackpole , Amy Taylor , Stavra Xanthakos , Benjamin Cocanougher","doi":"10.1016/j.ymgme.2026.109981","DOIUrl":"10.1016/j.ymgme.2026.109981","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109981"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923745","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
Sustained clinical response in first clinical trial patient dosed with ECUR-506 one year post discontinuation of standard of care 停止标准治疗一年后，首次临床试验患者服用ECUR-506后持续临床反应
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.2026.109983
George Diaz , Gabriel Cohn , Anil Dhawan , Anupam Chakrapani , Stephanie Grunewald , Molly Abbott , Helen Ashton , Sophie Foxall , Ai-Ling Koh , Christos Lazaridis , Havea Navarro-Kennedy , Hamza Patel , Siyaminji Sivananthan , Eleni Tamvaki , Katy Vecchiato , Matthew Hall , Karen Kuhn , Thomas White , Julien Baruteau
{"title":"Sustained clinical response in first clinical trial patient dosed with ECUR-506 one year post discontinuation of standard of care","authors":"George Diaz , Gabriel Cohn , Anil Dhawan , Anupam Chakrapani , Stephanie Grunewald , Molly Abbott , Helen Ashton , Sophie Foxall , Ai-Ling Koh , Christos Lazaridis , Havea Navarro-Kennedy , Hamza Patel , Siyaminji Sivananthan , Eleni Tamvaki , Katy Vecchiato , Matthew Hall , Karen Kuhn , Thomas White , Julien Baruteau","doi":"10.1016/j.ymgme.2026.109983","DOIUrl":"10.1016/j.ymgme.2026.109983","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109983"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923784","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
Carrier screening as the foundation for newborn screening in under-resourced communities 携带者筛查作为资源不足社区新生儿筛查的基础
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.2026.109957
Zineb Ammous, Jody Werker, Nicole Bertsch
{"title":"Carrier screening as the foundation for newborn screening in under-resourced communities","authors":"Zineb Ammous, Jody Werker, Nicole Bertsch","doi":"10.1016/j.ymgme.2026.109957","DOIUrl":"10.1016/j.ymgme.2026.109957","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109957"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923017","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
Three-hydroxyisobutyryl-CoA hydrolase in three individuals: A single institution experience 三羟基异丁基辅酶A水解酶在三个个体：一个单一的机构经验
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.2026.109977
Kimberly Chapman, Michael Leeson, Stacy Waung, Linda Randolph, MingYu “Maggie” Ma, Jessica Wisnowski
{"title":"Three-hydroxyisobutyryl-CoA hydrolase in three individuals: A single institution experience","authors":"Kimberly Chapman, Michael Leeson, Stacy Waung, Linda Randolph, MingYu “Maggie” Ma, Jessica Wisnowski","doi":"10.1016/j.ymgme.2026.109977","DOIUrl":"10.1016/j.ymgme.2026.109977","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109977"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923269","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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