Aspartoacylase (ASPA) gene mutations and neuroimaging features in Iranian patients with Canavan disease: a descriptive study [0.03%]
Canavan病伊朗患者的ASPA基因突变及神经影像特征描述性研究
Elham Rahimian,Majid R Tahsini,Parvaneh Karimzadeh et al.
Elham Rahimian et al.
Objective: In this retrospective descriptive study, we aimed to evaluate magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) findings alongside different ASPA gene mutations in patients to enhance u...
Third nationwide survey of bilirubin encephalopathy in preterm infants in Japan [0.03%]
日本早产儿高胆红素脑病第三次全国调查
Akihisa Okumura,Hiroshi Arai,Yoshiaki Sato et al.
Akihisa Okumura et al.
Objectives: To determine the clinical features and trends of occurrence of bilirubin encephalopathy in preterm infants (pBE) in Japan. Methods: ...
Urine protein/osmolality and creatinine/osmolality ratios for assessing proteinuria and motor function in children with spinal muscular atrophy [0.03%]
儿童脊髓性肌萎缩症患者的尿蛋白/渗透压和肌酐/渗透压比率评估蛋白尿及肌肉功能
Hüseyin Bahadır Şenol,Gizem Yıldız,Ezgi Çağlar et al.
Hüseyin Bahadır Şenol et al.
Background: Spinal muscular atrophy (SMA) is characterized by the degeneration of anterior horn motor neurons. While nusinersen has altered the natural course of SMA, it may accumulate in the kidneys, leading to proteinur...
Yoshiaki Saito,Noriko Sumitomo,Takashi Saito et al.
Yoshiaki Saito et al.
Aim: To characterize the periodic limb movements during sleep (PLMS) in children with Lesch-Nyhan syndrome (LNS). Methods: Three subjec...
Association between timely initial supportive management and short-term outcomes in pediatric febrile seizures: A retrospective inpatient cohort study [0.03%]
发热性惊厥患儿早期支持治疗的及时性与近期预后之间的关联：基于住院病例的回顾性队列研究
Xiaodan Lai,Xinyu Qiao,Xinyue Wang et al.
Xiaodan Lai et al.
Objective: To investigate the relationship between the timeliness of initial supportive management and short-term clinical outcomes in children with febrile seizures (FSs). ...
Cognitive impairment patterns and associated clinical and imaging characteristics in young patients with Sturge-Weber syndrome [0.03%]
Sturge-Weber 综合征年轻患者认知障碍的模式及其临床和影像特征
Halah Z Keramane,Michael E Behen,Aimee F Luat et al.
Halah Z Keramane et al.
Background: Most patients with Sturge-Weber syndrome (SWS) have unilateral brain involvement associated with a wide range of neurocognitive outcomes. Aims...
Correlation between febrile seizures and cytokines in children: a retrospective study [0.03%]
儿童发热性惊厥与细胞因子的相关性研究：回顾性研究
Dong Yu,Jia-Ni Hu,Yan-Fei Chen et al.
Dong Yu et al.
Objectives: To analyze the correlation between cytokine levels and the occurrence of febrile seizures (FS) following respiratory tract infections in children. ...
Ketogenic diet in children with epilepsy: A bibliometric and science mapping analysis of global research [0.03%]
儿童癫痫患者生酮饮食的文献计量和科学知识图谱分析研究
Kizbes Meral Kilic,Hilal Aydin
Kizbes Meral Kilic
Objective: The ketogenic diet has become an important therapeutic option for children with drug-resistant epilepsy; however, the structure and evolution of the related literature remain insufficiently clarified. This stud...
Clinical and neurodevelopmental features of chromosome 1 copy number variations in children [0.03%]
儿童1号染色体拷贝数变异的临床和神经发育特征
Aylin Yüksel Ülker,Esra Usluer,İbrahim Kaplan
Aylin Yüksel Ülker
Background: Copy number variations (CNVs) constitute a significant component of genomic variation and are implicated in the etiopathogenesis of neurodevelopmental and congenital disorders. Chromosome 1, the largest chromo...
Gender-related differences in characteristics and treatment response between attention-deficit/hyperactivity disorder Japanese children with and without autism spectrum disorder: a single-center retrospective study [0.03%]
注意缺陷多动障碍日本儿童伴或不伴有自闭症谱系障碍的性别差异：一项单中心回顾性研究
Yukihiko Kawasaki,Yuichi Suzuki,Kyohei Miyazaki et al.
Yukihiko Kawasaki et al.
Aim: Patients with attention-deficit/hyperactivity disorder (ADHD) as well as those with comorbid autism spectrum disorder (ASD), often experience intellectual developmental challenges, social immaturity and social diffic...