INFANTILE

作品数:259被引量:398H指数:10
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相关领域:医药卫生更多>>
相关作者:张月华邹丽萍李伟王斌张文杰更多>>
相关机构:山西省儿童医院中国人民解放军总医院北京大学第一医院首都医科大学附属北京儿童医院更多>>
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相关基金:国家自然科学基金上海市教育委员会重点学科基金教育部留学回国人员科研启动基金上海市科委实验动物专项更多>>
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Activation of D2-like dopamine receptors improves the neuronal network and cognitive function of PPT1KI mice
《Acta Pharmacologica Sinica》2025年第2期338-352,共15页Jun-qiang Zhao Bing-yan Feng Zhen-li Ye Xiao-yin Ma Jing-zhi Du Jun-mei Li Wan-liu Wu Jing-jing Gao Song-ji Li Shi-yong Peng Ji-sen Huai Li-hao Ge Cheng-biao Lu 
supported by the National Natural Science Foundation of China(NSFC:81771517,81271422);the Key Project of the 14th Five-Year Plan of Educational Science in Henan Province(2021JKZD09);the Key Scientific and Technological Project in Henan Province(212102310654);the Henan Province Medical Science and Technology Key Project Jointly Constructed by Province and Ministry(SBGJ202102189);the Key R&D and Promotion Projects in Henan Province(222102310615);Natural Science Foundation of Henan Province(242300421307);the Tai-hang Scholar Research Fund from Xinxiang Medical University;and the Henan Collaborative Innovation Center of Prevention and Treatment of Mental Disorders,the Second Affiliated Hospital of Xinxiang Medical University(XTkf11).
Palmitoyl-protein thioesterase 1(PPT1)is a lysosomal depalmitoylation enzyme that mediates protein posttranslational modifications.Loss-of-function mutation of PPT1 causes a failure of the lysosomal degradation of pal...
关键词:infantile neuronal ceroid lipofuscinosis palmitoyl-protein thioesterase 1 cognitive functions γoscillations DOPAMINE dopamine D4 receptor 
Surgical outcomes of drug-refractory infantile epileptic spasms syndrome and related prognostic factors:a retrospective study
《Acta Epileptologica》2024年第4期295-302,共8页Xueyan Cao Xin Ding Fengjun Zhu Li Chen Yan Chen Yang Sun Lin Li Zeshi Tan Cong Li Yi Yao Qiru Su Dezhi Cao 
supported by grants from the Shenzhen Health and Family Planning Commission(SZSM201812005);the Shenzhen Key Discipline Fund(SZXK033);the Shenzhen Science and Technology Plan Project(JCY20210324135211030).
Background In this study,we aimed to assess the efcacy of surgical treatment in children with drug-refractory infantile epileptic spasms syndrome(IESS)and examine the factors infuencing the post-surgical outcomes.Meth...
关键词:Drug-refractory epilepsy HEMISPHEROTOMY Post-surgical outcome Structural lesions Surgical treatment Infantile epileptic spasms syndrome 
Analysis of the etiology andclinical indicators of infantile cholestasis
《China Medical Abstracts(Internal Medicine)》2024年第4期221-221,共1页LI Qize 
Objective To explore the disease spectrum and corresponding clinical indicators of infantile cholestasis so as to provide a basis for the diagnosis of this type of disease at an early stage.Methods The clinical data w...
关键词:INFANTILE CHOLESTASIS Guiyang 
Adrenocorticotropic hormone combined with magnesium sulfate therapy for infantile epileptic spasms syndrome:a real-world study被引量:1
《World Journal of Pediatrics》2024年第8期834-847,共14页Wen He Qiu-Hong Wang Jiu-Wei Li Yang-Yang Wang Xiao-Mei Luo Lin Wan Jing Wang Xiu-Yu Shi Wei-Hua Zhang Fang Fang Li-Ping Zou 
funded by the Capital’s Funds for Health Improvement and Research(No.2022-1-5081);National Key Research and Development Program of China(No.2016YFC1000707).
Background Infantile epileptic spasms syndrome(IESS)is a serious disease in infants,and it usually evolves to other epilepsy types or syndromes,especially refractory or super-refractory focal epilepsies.Although adren...
关键词:Adrenocorticotropic hormone Clinical trial Infantile epileptic spasms syndrome Magnesium sulfate Real-world study 
Infantile Spinal Muscular Atrophy at the Albert Royer National Children’s Hospital Center in Dakar
《Open Journal of Pediatrics》2024年第3期514-521,共8页Guillaye Diagne Khadim Bop Sofiatou Dieye Arame Faye Fatou Ly Amadou Lamine Fall 
Introduction: Infantile spinal muscular atrophy (ISA) is an autosomal recessive disease caused by primary degeneration of cells in the anterior horn of the spinal cord, leading to muscle weakness and hypotonia. Its in...
关键词:Spinal Muscular Atrophy CHILD HYPOTONIA DAKAR 
Genetic variant reanalysis reveals a case of Sandhoff disease with onset of infantile epileptic spasm syndrome
《Acta Epileptologica》2024年第1期67-73,共7页Qi Zhang Liping Zou Qian Lu Qiuhong Wang Shuo Dun Jing Wang 
funded by the Capital’s Funds for Health Improvement and Research(No.2022-1-5081).
Background Sandhoff disease(SD)i s an autosomal recessive lysosomal disease with clinical manifestations such as epilepsy,psychomotor retardation and developmental delay.However,infantile SD with onset of infantile ep...
关键词:Infantile Sandhoff disease Gene variant reanalysis HEXB gene Infantile epilepsy spasm syndrome Cherry red spot Human phenotype ontology 
面部婴儿纤维瘤病诊治1例病例报道
《现代口腔医学杂志》2024年第1期74-77,共4页孙露瑄 周福亭 王立山 张政 张祖训 
婴儿纤维瘤病(infantile fibromatosis,IFM)由Stout于1954年首次证实和描述为独立性疾病[1],是一种罕见的非转移性但有局部侵袭性的成纤维母细胞增生性疾病,属于中间性肿瘤。IFM多发生在头颈部、肩部、上臂、大腿,其中以头颈部的舌、下...
关键词:纤维瘤病 增生性疾病 病例报道 乳突部 局部侵袭性 INFANTILE 头颈部 婴儿 
Dose escalation of adalimumab as a strategy to overcome anti-drug antibodies:A case report of infantile-onset inflammatory bowel disease
《World Journal of Gastroenterology》2023年第38期5428-5434,共7页Silvana Ancona Sara Signa Chiara Longo Giuliana Cangemi Roberta Carfora Enrico Drago Alessandro La Rosa Marco Crocco Andrea Chiaro Paolo Gandullia Serena Arrigo 
BACKGROUND Treatment of infantile-onset inflammatory bowel disease(IO-IBD)is often challenging due to its aggressive disease course and failure of standard therapies with a need for biologics.Secondary loss of respons...
关键词:Infantile-onset inflammatory bowel disease ADALIMUMAB Loss of response Dose escalation Anti-drug antibodies Case report 
Effect of acupuncture combined with infantile tuina on intestinal flora in children with tic disorders
《China Medical Abstracts(Internal Medicine)》2023年第3期133-133,共1页常虹 
Objective To observe the effect of acupuncture combined with infantile tuina on intestinal flora and its efficacy in children with tic disorders(TD),and to explore its mechanism.Methods A total of 15 childrenwith TD w...
关键词:ACUPUNCTURE mechanism. INFANTILE 
SCN8A epileptic encephalopathy mutations display a gain-of-function phenotype and divergent sensitivity to antiepileptic drugs被引量:1
《Acta Pharmacologica Sinica》2022年第12期3139-3148,共10页Qian-bei Guo Li Zhan Hai-yan Xu Zhao-bing Gao Yue-ming Zheng 
This work was supported by the National Science Fund for Distinguished Young Scholars(81825021);the National Natural Science Foundation of China(81773707);the Youth Innovation Promotion Association of the Chinese Academy of Sciences(2020284);the Fund of Science and Technology Commission of Shanghai Municipality(19431906000).
De novo missense mutations in SCN8A gene encoding voltage-gated sodium channel NaV1.6 are linked to a severe form of early infantile epileptic encephalopathy named early infantile epileptic encephalopathy type13(EIEE1...
关键词:early infantile epileptic encephalopathy type 13 SCN8A gain-of-function mutation antiepileptic drugs PHENYTOIN CARBAMAZEPINE 
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