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Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine 假性缺乏症：在精准医学时代，一个定义不清且被误解的术语
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.2026.109921
Jennifer Goldstein , Deeksha Bali , Amanda Balog , Emily Brown Reeves , Didem Demirbas , Raquel Fernandez , Florencia Giliberto , Emily Groopman , Christina Hung , Melanie Lacaria , Rong Mao , Shruthi Mohan , Dawn Peck , Filippo Pinto e Vairo , Laura Pollard , Catherine Rehder , Juliann Savatt , Ryan Schmidt , Pepper St. Clair , Meredith Weaver , Lorne Clarke
{"title":"Pseudodeficiency: A poorly defined and misunderstood term in an era of precision medicine","authors":"Jennifer Goldstein , Deeksha Bali , Amanda Balog , Emily Brown Reeves , Didem Demirbas , Raquel Fernandez , Florencia Giliberto , Emily Groopman , Christina Hung , Melanie Lacaria , Rong Mao , Shruthi Mohan , Dawn Peck , Filippo Pinto e Vairo , Laura Pollard , Catherine Rehder , Juliann Savatt , Ryan Schmidt , Pepper St. Clair , Meredith Weaver , Lorne Clarke","doi":"10.1016/j.ymgme.2026.109921","DOIUrl":"10.1016/j.ymgme.2026.109921","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109921"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923780","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
AWARDS 奖
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.2026.109898
{"title":"AWARDS","authors":"","doi":"10.1016/j.ymgme.2026.109898","DOIUrl":"10.1016/j.ymgme.2026.109898","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109898"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923276","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
Selected Abstracts for Oral Presentation 口头报告摘要精选
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.2026.109939
{"title":"Selected Abstracts for Oral Presentation","authors":"","doi":"10.1016/j.ymgme.2026.109939","DOIUrl":"10.1016/j.ymgme.2026.109939","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109939"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923344","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
Investigating the specificity of two novel biomarkers for pyridoxine dependent epilepsy: Implications for newborn screening, diagnosis, and treatment monitoring 研究吡哆醇依赖性癫痫的两种新型生物标志物的特异性：对新生儿筛查、诊断和治疗监测的意义
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.2026.109933
Jaclyn Souder , Kristine Pauly , Curtis Coughlin , Timothy C. Wood
{"title":"Investigating the specificity of two novel biomarkers for pyridoxine dependent epilepsy: Implications for newborn screening, diagnosis, and treatment monitoring","authors":"Jaclyn Souder , Kristine Pauly , Curtis Coughlin , Timothy C. Wood","doi":"10.1016/j.ymgme.2026.109933","DOIUrl":"10.1016/j.ymgme.2026.109933","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109933"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923404","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
Novel therapies improve mitochondrial bioenergetics and alleviate potential ROS damage in fibroblasts from patients with POLG-related disorders 新疗法改善线粒体生物能量学，减轻polg相关疾病患者成纤维细胞中潜在的ROS损伤
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.2026.109970
Kaitlyn Bloom , Bianca Seminotti , Eduardo Vieira Neto , Al-Walid Mohsen , Jerry Vockley
{"title":"Novel therapies improve mitochondrial bioenergetics and alleviate potential ROS damage in fibroblasts from patients with POLG-related disorders","authors":"Kaitlyn Bloom , Bianca Seminotti , Eduardo Vieira Neto , Al-Walid Mohsen , Jerry Vockley","doi":"10.1016/j.ymgme.2026.109970","DOIUrl":"10.1016/j.ymgme.2026.109970","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109970"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923438","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
Early-onset cardiomyopathy, bilateral vocal-cord dysfunction, and progressive neurodegeneration in a neonate with compound heterozygous VARS2 variants: Expanding the clinical spectrum of COXPD20 复合杂合VARS2变异新生儿的早发性心肌病、双侧声带功能障碍和进行性神经退行性变：扩展cox - pd20的临床谱
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.2026.109971
Andrej Bogojevic , William Fyke , Lakshmi Mehta , Valentina Emmanuele , Andres Morales Corado
{"title":"Early-onset cardiomyopathy, bilateral vocal-cord dysfunction, and progressive neurodegeneration in a neonate with compound heterozygous VARS2 variants: Expanding the clinical spectrum of COXPD20","authors":"Andrej Bogojevic , William Fyke , Lakshmi Mehta , Valentina Emmanuele , Andres Morales Corado","doi":"10.1016/j.ymgme.2026.109971","DOIUrl":"10.1016/j.ymgme.2026.109971","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109971"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923439","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 and validation of the executive function, attention, and speed symptom inventory for PKU (PKU-EASSI) PKU执行功能、注意力和速度症状量表的开发和验证（PKU- eassi）
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.2026.109972
Scout Bolton, Shawn Christ
{"title":"Development and validation of the executive function, attention, and speed symptom inventory for PKU (PKU-EASSI)","authors":"Scout Bolton, Shawn Christ","doi":"10.1016/j.ymgme.2026.109972","DOIUrl":"10.1016/j.ymgme.2026.109972","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109972"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923440","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
Ten-year follow-up data from newborn screening for acid sphingomyelinase deficiency in Illinois 伊利诺伊州新生儿酸性鞘磷脂酶缺乏症筛查的10年随访数据
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.2026.109961
Joshua Baker, Rachel Hickey
{"title":"Ten-year follow-up data from newborn screening for acid sphingomyelinase deficiency in Illinois","authors":"Joshua Baker, Rachel Hickey","doi":"10.1016/j.ymgme.2026.109961","DOIUrl":"10.1016/j.ymgme.2026.109961","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109961"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923500","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
Unexplained coma as the first manifestation of ornithine transcarbamylase deficiency in a 76 year old male 原因不明的昏迷为76岁男性鸟氨酸转氨基甲酰基酶缺乏的第一表现
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.2026.109958
Asha Anand, Jaya Ganesh
{"title":"Unexplained coma as the first manifestation of ornithine transcarbamylase deficiency in a 76 year old male","authors":"Asha Anand, Jaya Ganesh","doi":"10.1016/j.ymgme.2026.109958","DOIUrl":"10.1016/j.ymgme.2026.109958","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109958"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923538","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
In situ cryo-electron microscopy tomography reveals adipyl-D-ala-D-his effectively ameliorates gross mitochondrial structural abnormalities and alters mitochondrial quality control biomarkers in propionic acidemia patient cells 原位冷冻电镜扫描显示，adipyl-D-ala-D-his可有效改善丙酸血症患者细胞中线粒体结构异常，并改变线粒体质量控制生物标志物
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.2026.109945
Tabitha Banks-Tibbs , Kaitlyn Bloom , Anuradha Karunanidhi , Jiying Ning , Malhaar Nagaraj , Zachary Freyberg , Al-Walid Mohsen , Jerry Vockley
{"title":"In situ cryo-electron microscopy tomography reveals adipyl-D-ala-D-his effectively ameliorates gross mitochondrial structural abnormalities and alters mitochondrial quality control biomarkers in propionic acidemia patient cells","authors":"Tabitha Banks-Tibbs , Kaitlyn Bloom , Anuradha Karunanidhi , Jiying Ning , Malhaar Nagaraj , Zachary Freyberg , Al-Walid Mohsen , Jerry Vockley","doi":"10.1016/j.ymgme.2026.109945","DOIUrl":"10.1016/j.ymgme.2026.109945","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109945"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923580","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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