Harmless Food Supplement or Medicine with Side Effects-Promising Treatment Options for Neurometabolic Disorders: Explore Well and Proceed with Caution [0.03%]
无害的保健品还是有副作用的药物——神经系统代谢障碍的治疗选择：谨慎探索，稳步推进
Saskia B Wortmann,Ingo Borggraefe
Saskia B Wortmann
Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated With SARS-CoV-2 Infection and a Heterozygous IRF3 Variant in a 10-Month-Old Girl: A Case Report [0.03%]
与SARS-CoV-2感染和IRF3杂合变异相关的半身强直-阵挛性癫痫综合征的病例报告：10个月女孩一例
Catherine Aurelia Wohlgemuth,Antonio Giulio Gennari,Santo Pietro Lo Biundo et al.
Catherine Aurelia Wohlgemuth et al.
Hemiconvulsion-Hemiplegia-Epilepsy (HHE) syndrome is a rare pediatric epilepsy syndrome characterized by prolonged focal febrile seizures, postictal hemiparesis, and progressive unilateral brain injury, often followed by chronic epilepsy. W...
Toru Nagata,Toshiki Takenouchi
Toru Nagata
EVALUATION OF EXPERIENCED CLINICAL EVENTS IN POMPE DISEASE BASED ON REAL-LIFE DATA [0.03%]
基于真实世界数据评估Pompe病临床事件发生率
Fehime Erdem Karapınar,Havva Yazıcı,Merve Yoldaş Çelik et al.
Fehime Erdem Karapınar et al.
Objective: Pompe disease is a rare lysosomal storage disorder with a wide clinical spectrum ranging from infantile-onset Pompe disease (IOPD) with early severe cardiomyopathy to late-onset Pompe disease (LOPD) with progre...
Association Between Rapid Progression, Early Mortality, and Imaging in Neonatal-Onset Alexander Disease [0.03%]
新生儿起病亚历山大病快速进展、早期死亡与影像学之间的关系
Simone Schwarz,Sylke J Steggerda,Linda S de Vries et al.
Simone Schwarz et al.
Alexander disease represents a rare genetic leukodystrophy caused by abnormal astrocytic accumulations of intracytoplasmic proteinaceous inclusions with astrocyte dysfunction. With neonatal onset, survival ranges from 1.5 months to more tha...
Evaluation of an online patient education program for children and young people with ME/CFS and their parents within the BAYNET FOR MECFS Study [0.03%]
贝伊网用于评估针对儿童、青少年和家长的慢性疲劳综合征在线患者教育项目效果研究
Franca Keicher,Julia Thomann,Jana Erlenwein et al.
Franca Keicher et al.
Background: ME/CFS (Myalgic Encephalomyelitis/Chronic Fatigue Syndrome) poses challenges for affected children and young people (CYP) and their parents. There is often a lack of knowledge about the illness. Education prog...
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate [0.03%]
肝细胞癌：吡哆醛磷酸治疗患者的严重并发症
Marion Brands,Chloe de Puyraimond,Sidney M Gospe et al.
Marion Brands et al.
Background Pyridoxal-5'-phosphate (PLP) is in most patients the effective treatment for pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency, a rare autosomal recessive cause of neonatal-onset developmental and epileptic encephalopathy. Al...
Utility and Prognostic Implications of Continuous Electroencephalogram Monitoring in Pediatric Intensive Care [0.03%]
儿童重症监护中连续脑电图监测的效用及预后意义
Alper Koker,Furkan Donbaloğlu,Erdem Çebişli et al.
Alper Koker et al.
Background: Continuous electroencephalography (cEEG) is increasingly used in pediatric intensive care units (PICUs), but data on its diagnostic yield and prognostic value in critically ill children remain limited. This st...
Exploring Molecular Pathways Underlying Epilepsy Development in Intellectual Disability [0.03%]
探究智力障碍相关癫痫的分子通路
Çağatay Günay,Leman Binokay,Gökhan Karakülah et al.
Çağatay Günay et al.
Background: Intellectual disability (ID) and epilepsy are often comorbid, but the pathways that lead to epilepsy in individuals with ID remain unclear. This study aims to explore the molecular pathways linked to epilepsy ...