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Journal of Inherited Metabolic Disease 封面图

Journal of Inherited Metabolic Disease

IF3.8
论文数263
被引数7904
期刊论文 263
发表时间
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Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency肌酸补充通过下调AGAT在GAMT缺乏的小鼠模型中减少胍基乙酸
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-10-22
delete0
PREAI
deleteIlona Tkachyova; Dahai Wang; Alex Lee; Philip Rößler; Joshua Atienza; Jens Feugmann; Niko Guischard; Anson Hui; Chloe Shi; Andreas Schulze
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Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl‐ tRNA Synthetase Deficiencies针对线粒体氨酰-tRNA合成酶缺乏的儿科患者的定制氨基酸治疗
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-10-12
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deleteOAAI
deleteI. J. J. Muffels; G. Kok; Z. Tang; L. S. Medeiros; F. O. Poswar; W. P. Vermeij; R. Rodenburg; K. Smit; S. K. Sukumaran; S. B. Wortmann; L. Averdunk; J. Munch; J. Pak‐lam Ho; A. M. K. Kwok; E. E. S. Nieuwenhuis; P. M. van Hasselt; I. V. D. Schwartz; C. M. A. Lubout; A. M. Bosch; K. Koop; E. M. M. Hoytema van Konijnenburg; S. A. Fuchs
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Revisiting Inherited Metabolic Diseases ( IMDs ) Through the Lens of Selective Autophagy通过选择性自噬重新审视遗传代谢病（IMDs）
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-10-12
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deleteMarianna Maddaluno; Laura Cinque; Viviana Cetrangolo; Chiara De Leonibus
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Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD)二氯乙酸盐改善动物存活率、生长、神经肌肉活动、线粒体应激和生理状态，并提高乳酸盐水平，在C. elegans pdha-1和dld-1 RNAi模型中模拟丙酮酸脱氢酶复合体缺乏（PDCD）
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-10-10
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deleteCristina Remes; Neal D. Mathew; Victoria Miranda; Suraiya Haroon; Tyler O'Hara; Vernon E. Anderson; Manuela Lavorato; Kelsey Keith; Rui Xiao; Eiko Nakamaru-Ogiso; Marni J. Falk
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Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency丙酮酸脱氢酶复合物缺乏症的诊断与管理共识指南
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-10-03
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deleteNandaki Keshavan; Julia Neugebauer; Marcello Bellusci; Enrico Bertini; Garry Brown; Niklas Darin; Suzanne DeBrosse; Lucy Drexler; Stefan Drexler; Gregory M. Enns; Rebecca D. Ganetzky; Kelly Gilbert; Austin Larson; Rebecca Legi; April N. Lehman; Camile Newby; Manuel Schiff; Rachel Skeath; Peter W. Stacpoole; Sarah Thompson; Emma Watt; Saskia B. Wortmann; Jirair K. Bedoyan; Shamima Rahman
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Congenital Disorders of Glycosylation (CDG): State of the Art in 2026先天性糖基化紊乱(CDG)：2026年研究现状
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-30
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PREAI
deletePatryk Lipiński; Jaak Jaeken
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Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method遗传代谢病必需的口服单营养疗法产品：采用改良德尔菲法进行的证据与共识评估
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-30
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deleteNina N. Stolwijk; Bart M. F. Penninx; Annet M. Bosch; Mirjam Langeveld; Gajja S. Salomons; Carla E. M. Hollak; Essential Nutritional Therapy Products for IMDs Consensus Group
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Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies脂肪酸氧化障碍的治疗现状：新兴的个性化治疗策略
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-29
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deleteU. Spiekerkoetter; J. Vockley
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International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)长链脂肪酸氧化障碍（LC-FAOD）的诊断、治疗和监测国际指南
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-25
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deleteSarah C. Grünert; Kaustuv Bhattacharya; Daniela Karall; Mirjam Langeveld; Fran Rohr; Gepke Visser; Jerry Vockley; Aileen Kenneson; Rani H. Singh; Ute Spiekerkoetter; International LC-FAOD Guideline Workgroup
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L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (Gcdh−/−) MiceL-肉碱可预防脂多糖诱导的炎症反应、小胶质细胞激活和大脑皮层神经元损伤，以及谷酰辅酶A脱氢酶缺乏（Gcdh−/−）新生小鼠的神经运动发育迟缓
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-21
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deleteEdiandra Tissot Castro; Ângela Zanatta; Rafael Teixeira Ribeiro; Diorlon Nunes Machado; Andrey Vinicios Soares Carvalho; Ângela Beatris Zemniaçak; Sâmela de Azevedo Cunha; Tailine Quevedo Tavares; Manuela Bianchin Marcuzzo; Larissa Daniele Bobermin; Carlos Alexandre Netto; Alexandre Umpierrez Amaral; Carmen Regla Vargas; Guilhian Leipnitz; Moacir Wajner
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Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase DefectsTMEM70和MT-ATP6相关线粒体ATP合酶缺陷中，不同的尿素循环功能障碍特征可区分急性代谢失代偿
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-11
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PREAI
deleteBarbara Siri; Diego Martinelli; Rosalba Carrozzo; Sara Boenzi; Sara Cairoli; Cristiano Rizzo; Teresa Giovanniello; Johannes Häberle; Carlo Dionisi-Vici
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Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition儿童中毒性先天性代谢病中的肌肉减少症：一种常见且未被充分认识的状况
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-10
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PREAI
deleteSilvio Veraldi; Maria Sole Basso; Giovanna Soglia; Riccardo Cirelli; Gionata Spagnoletti; Silvia Maria Bernabei; Alessia Esposito; Cristiano Rizzo; Sara Cairoli; Diego Martinelli; Lidia Monti; Marco Spada; Andrea Pietrobattista; Carlo Dionisi-Vici
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Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis ( MPS ) Type II : Results of up to 14 Years of Follow‐Up对23例II型黏多糖贮积症患者认知发育的纵向评估：长达14年的随访结果
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-10
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deleteJ. (Julia) Holdorp; M. E. (Michelle) Kruijshaar; A. A. M. (Audrey) Vollebregt; A. B. (Andre) Rietman; M. R. K. (Marianne) Dijkstra; C. (Carina) Klees; M. (Margreet) Wagenmakers; A. H. P. (Annie) Nguyen; E. (Esmee) Oussoren; A. T. (Ans) van der Ploeg; J. M. P. (Hannerieke) van den Hout
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Genome Editing for Glycogen Storage Diseases基因组编辑在糖原贮积症中的应用
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-08
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deleteTroy von Beck; Raymond Wang; Dwight Koeberl
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Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDGII期开放标签研究结果：评估GLM101在三例PMM2-CDG成年患者中的安全性、耐受性及对共济失调的影响
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-07
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deleteMercedes Serrano; Florencia Epifani; Rose Marino; Peter McWilliams
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Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIaDTX401 AAV基因疗法治疗GSDIa的III期随机试验结果
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-06
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deleteJohn J. Mitchell; Jose E. Abdenur; Foekje de Boer; Monica Boyer; Margo Sheck Breilyn; María-Luz Couce; Diva D. De Leon; Terry G. Derks; Areeg El-Gharbawy; Andrea B. Haijer-Schreuder; Karen Loechner; Nicola Longo; Allan M. Lund; Miguel Angel Martinez Olmos; Shawn E. McCandless; Bibiana Mello de Oliveira; Malaya Mount; Nicole Muschol; Kristina Pytlak; Kadakkal Radhakrishnan; Rebecca Riba-Wolman; David F. Rodriguez-Buritica; Alessandro La Rosa; Alessandro Rossi; Heather Saavedra; René Santer; Brian Shayota; G. Peter A. Smit; Carolina F. Moura De Souza; Melanie M. van der Klauw; David A. Weinstein; Joseph I. Wolfsdorf; Anne Blake; Andrew A. Grimm; Deepali Mitragotri; Syeda Rahman; Diane M. Turner-Bowker; Richard Collis
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Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study钴胺素相关再甲基化障碍：妊娠结局与产前治疗—新病例及文献研究
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-06
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PREAI
deleteKarolina M. Stepien; Jolanta Sykut-Cegielska; Jennifer Sloan; Flavia Piazzon; Sarah Bick; Juliette Bouchereau; Edwin C. Ferren; Nina Gold; Apolline Imbard; Mirian C. H. Janssen; Pavel Jesina; Lisa A. Joseph; Amanda Krzywdzińska-Rogowska; Louise Lapagesse; Fanny Mochel; Carol Van Ryzin; Manuel Schiff; Ida Vanessa Schwartz; Audrey Thurm; Wadih M. Zein; Charles P. Venditti; Martina Huemer; Irini Manoli
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A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders当代遗传性溶酶体疾病的病理解剖分类学
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-06
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PREAI
deleteEamon P. McCarron; Nenad Blau; Emily R. Eden; Frances M. Platt; Johannes M. Aerts; Simon A. Jones; Carlos R. Ferreira; Karolina M. Stepien
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Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities线粒体CLPP在健康与疾病中的机制、治疗双重性及新兴机遇
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-06
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deleteLea Isermann; Aleksandra Trifunovic
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Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency治疗由过度活跃的酶引起的疾病：BCKD-激酶缺乏症
deleteJournal of Inherited Metabolic Disease
IF3.8
delete2026-09-06
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PREAI
deleteJuliana Ribeiro-Constante; Trine Tangeraas; Angeles García-Cazorla
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