ARTHROGRYPOSIS

作品数：6被引量：17H指数：3
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相关领域：医药卫生更多>>
相关期刊：《World Journal of Gastroenterology》《World Journal of Clinical Cases》《World Journal of Otorhinolaryngology-Head and Neck Surgery》《Frontiers of Medicine》更多>>
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Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis,renal dysfunction and cholestasis syndrome 1:A case report被引量：1
《World Journal of Clinical Cases》2022年第30期11016-11022,共7页Hui Yang Shuang-Zhu Lin Shi-Hui Guan Wan-Qi Wang Jia-Yi Li Gui-Dan Yang Su-Li Zhang 
Supported by the Hainan Province Clinical Medical Center,No.(2021)75 and(2021)276。
BACKGROUND The VPS33B(OMIM:608552)gene is located on chromosome 15q26.1.We found a female infant with autosomal recessive arthrogryposis,renal dysfunction and cholestasis syndrome 1(ARCS1)caused by mutation in VPS33B....
关键词：Arthrogryposis renal dysfunction and cholestasis syndrome 1 VPS33B gene Children Heterozygous mutation Case report 
Difficult airway management in children and young adults with arthrogryposis被引量：2
《World Journal of Otorhinolaryngology-Head and Neck Surgery》2018年第2期122-125,共4页Glenn Isaacson Elizabeth T.Drum 
Objective: To review current evidence and experience with anesthesia and airway management issues in children and young adults with arthrogryposis. Data sources: Review of existing world literature and description of ...
关键词：ARTHROGRYPOSIS ENDOTRACHEAL INTUBATION DIFFICULT AIRWAY Malignant HYPERTHERMIA 
Arthrogryposis multiplex congenita： classification, diagnosis, perioperative care, and anesthesia被引量：6
《Frontiers of Medicine》2017年第1期48-52,共5页Lulu Ma Xuerong Yu 
Arthrogryposis multiplex congenita （AMC） is a rare disorder characterized by non-progressive, multiple contractures. In addition to affected extremities, patients may also present microstomia, decreased temporomandi...
关键词：ARTHROGRYPOSIS amyoplasia distal arthrogryposis ANESTHESIA 
ARC syndrome with high GGT cholestasis caused by VPS33B mutations被引量：7
《World Journal of Gastroenterology》2014年第16期4830-4834,共5页Jian-She Wang Jing Zhao Li-Ting Li 
Supported by National Natural Science Foundation of China,No.81070281
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (OMIM 208085) is an autosomal recessive disorder that is caused by mutations in 2 interacting genes VPS33B and VIPAS39. Mutations in VPS33B gene account...
关键词：Arthrogryposis  renal dysfunction and cholestasis syndrome CHOLESTASIS Gamma-glutamyl-transpeptidase VPS33B Renal dysfunction GLUCOSURIA 
Two novel VPS33B mutations in a patient with arthrogryposis,renal dysfunction and cholestasis syndrome in China's Mainland被引量：7
《World Journal of Gastroenterology》2014年第1期326-329,共4页Li-Ting Li Jing Zhao Rui Chen Jian-She Wang 
Supported by National Natural Science Foundation of China,No.81070281
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not been described in China. We present a female infant with neonatal intrahepatic cholestasis from a Chinese family ...
关键词：Arthrogryposis  renal dysfunction and cholestasis syndrome CHOLESTASIS VPS33B Gene Mutation 
The effect analysis of functional anaplasty in the position of arthrogryposis during the late period of super-large burn
《中国临床康复》2002年第6期923-923,共1页刘洪琪 李德水 侯晓华 邢玉玺 邢同义 陈志军 
Objective To discuss the effect of application of de cell xenoma dermal and chin auto pachyderma in functional position anaplasty during the late period of super large burn.Method To incise eschar and cograft of de ce...
关键词：功能性整形术 关节照相术 大面积烧伤 颏厚皮 皮肤移植 
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