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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
Combined oxidative phosphorylation deficiency 13 (COXPD13): Phenotypic heterogeneity and variable interferon activation in PNPT1-related mitochondrial disease 联合氧化磷酸化缺陷13 (COXPD13): pnpt1相关线粒体疾病的表型异质性和可变干扰素激活
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.2026.109949
Dan Brooks , Steven Lang , Hyunyong Koh , Rui Yang , Sarah Nicholas , Pilar Magoulas , Chaya Murali , Christine Eng , Lisa Emrick , Kristin Fisher , Fernando Scaglia
{"title":"Combined oxidative phosphorylation deficiency 13 (COXPD13): Phenotypic heterogeneity and variable interferon activation in PNPT1-related mitochondrial disease","authors":"Dan Brooks , Steven Lang , Hyunyong Koh , Rui Yang , Sarah Nicholas , Pilar Magoulas , Chaya Murali , Christine Eng , Lisa Emrick , Kristin Fisher , Fernando Scaglia","doi":"10.1016/j.ymgme.2026.109949","DOIUrl":"10.1016/j.ymgme.2026.109949","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109949"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923289","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
Dual X-linked rare disorders in a Puerto Rican male: Biochemical confirmation of SLC35A2 dysfunction with concurrent BGN-related SEMD 波多黎各男性双x连锁罕见疾病：生化证实SLC35A2功能障碍并发bgnn相关SEMD
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.2026.109955
Elinette Albino , Frances Velez-Bartolomei
{"title":"Dual X-linked rare disorders in a Puerto Rican male: Biochemical confirmation of SLC35A2 dysfunction with concurrent BGN-related SEMD","authors":"Elinette Albino , Frances Velez-Bartolomei","doi":"10.1016/j.ymgme.2026.109955","DOIUrl":"10.1016/j.ymgme.2026.109955","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109955"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923386","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
Glycogen storage disease type X (GSDX): A new case and comprehensive literature review of clinical, biochemical, and molecular features 糖原储存病X型（GSDX）：一个新病例和临床、生化和分子特征的综合文献综述
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.2026.109989
Yutaka Furuta , Rana Al-Jaberi , Rory Tinker , John Phillips , Hong Li
{"title":"Glycogen storage disease type X (GSDX): A new case and comprehensive literature review of clinical, biochemical, and molecular features","authors":"Yutaka Furuta , Rana Al-Jaberi , Rory Tinker , John Phillips , Hong Li","doi":"10.1016/j.ymgme.2026.109989","DOIUrl":"10.1016/j.ymgme.2026.109989","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109989"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923407","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
From glycosylation to cognition: Biotin as a metabolic modulator in PMM2-CDG and beyond 从糖基化到认知：生物素作为PMM2-CDG及其他代谢调节剂
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.2026.110006
Nastassja Himmelreich , Sven F. Garbade , Jürgen G. Okun , Simone Hengst , Virginia Geiger , Rita Barone , Saskia B. Wortmann , Christian Thiel
{"title":"From glycosylation to cognition: Biotin as a metabolic modulator in PMM2-CDG and beyond","authors":"Nastassja Himmelreich , Sven F. Garbade , Jürgen G. Okun , Simone Hengst , Virginia Geiger , Rita Barone , Saskia B. Wortmann , Christian Thiel","doi":"10.1016/j.ymgme.2026.110006","DOIUrl":"10.1016/j.ymgme.2026.110006","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 110006"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923471","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
Neurodevelopmental outcomes following early versus later liver transplant in methylmalonic and propionic acidemias 甲基丙二酸和丙酸血症患者早期与晚期肝移植后的神经发育结局
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.2026.109962
Peter Baker, Johan L.K. Van Hove, Daelyn Richards, Brady Slater, Jaclyn Souder
{"title":"Neurodevelopmental outcomes following early versus later liver transplant in methylmalonic and propionic acidemias","authors":"Peter Baker, Johan L.K. Van Hove, Daelyn Richards, Brady Slater, Jaclyn Souder","doi":"10.1016/j.ymgme.2026.109962","DOIUrl":"10.1016/j.ymgme.2026.109962","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109962"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923501","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
Brains in transition: Neurocognitive care across the lifespan in IEM 过渡中的大脑：IEM生命周期中的神经认知护理
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.2026.109929
Kuntal Sen
{"title":"Brains in transition: Neurocognitive care across the lifespan in IEM","authors":"Kuntal Sen","doi":"10.1016/j.ymgme.2026.109929","DOIUrl":"10.1016/j.ymgme.2026.109929","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109929"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923682","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
2026 SIMD Poster Presentation Abstracts 2026 SIMD海报展示摘要
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.2026.109946
{"title":"2026 SIMD Poster Presentation Abstracts","authors":"","doi":"10.1016/j.ymgme.2026.109946","DOIUrl":"10.1016/j.ymgme.2026.109946","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109946"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923014","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
N-acetylglutamate synthetase knockout mouse – an animal model of neonatal hyperammonemia n -乙酰谷氨酸合成酶敲除小鼠-新生儿高氨血症动物模型
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.2026.109974
Ljubica Caldovic , Alyssa Kowalczyk , Kennedy Blancher , Tina Li , Brianna Pierce , Gary Cunningham , Yun Zhou , Parthasarathy Sonaimuthu , Jamie Fraser , Kirkland Wilson , Nathan Smith , Judy Liu , Nicholas AhMew
{"title":"N-acetylglutamate synthetase knockout mouse – an animal model of neonatal hyperammonemia","authors":"Ljubica Caldovic , Alyssa Kowalczyk , Kennedy Blancher , Tina Li , Brianna Pierce , Gary Cunningham , Yun Zhou , Parthasarathy Sonaimuthu , Jamie Fraser , Kirkland Wilson , Nathan Smith , Judy Liu , Nicholas AhMew","doi":"10.1016/j.ymgme.2026.109974","DOIUrl":"10.1016/j.ymgme.2026.109974","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109974"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923016","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
Long-term morbidity and mortality following solid organ transplantation in MMUT - Methylmalonic acidemia 甲基丙二酸血症在MMUT实体器官移植后的长期发病率和死亡率
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.2026.109940
Irini Manoli , Jennifer Sloan , Oleg Shchelochkov , Carolina Galarreta-Aima , Kevin O'Brien , Wadih M. Zein , Laryssa Huryn , Jennifer Myles , Carol Van Ryzin , Susan Ferry , Charles P. Venditti
{"title":"Long-term morbidity and mortality following solid organ transplantation in MMUT - Methylmalonic acidemia","authors":"Irini Manoli , Jennifer Sloan , Oleg Shchelochkov , Carolina Galarreta-Aima , Kevin O'Brien , Wadih M. Zein , Laryssa Huryn , Jennifer Myles , Carol Van Ryzin , Susan Ferry , Charles P. Venditti","doi":"10.1016/j.ymgme.2026.109940","DOIUrl":"10.1016/j.ymgme.2026.109940","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"148 1","pages":"Article 109940"},"PeriodicalIF":3.5,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147923373","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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