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首页> BMC medical genomics> Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome.

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome.

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作者： Zhe-Wen,Zhou ^[1] ; Shou-Hao,Wang ^[2] ; Cheng-An,Xu ^[2] ; Wen-Hao,Wu ^[2] ; Tian-Chen,Hui ^[2] ; Qiao-Qiao,Yin ^[2] ; Wei,Zheng ^[2] ; Hong-Ying,Pan ^[2]

作者单位： Graduate School of Clinical Medicine, Bengbu Medical College, Bengbu, 233000, Anhui Province, China. ^[1] Department of Infectious Diseases, Center for General Practice Medicine, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, 310014, Zhejiang Province, China. ^[2] Graduate School of Clinical Medicine, Bengbu Medical College, Bengbu, 233000, Anhui Province, China. hypanzjsrmyy@126.com. ^[3] Department of Infectious Diseases, Center for General Practice Medicine, Zhejiang Provincial People's Hospital (Affiliated People's Hospital, Hangzhou Medical College), Hangzhou, 310014, Zhejiang Province, China. hypanzjsrmyy@126.com. ^[4]

关键词 Budd-Chiari syndrome Case report Niemann Pick disease type B SMPD1 gene Sea-blue histiocytosis

主题词 Budd-Chiari综合征(Budd-Chiari Syndrome);儿童, 学龄前(Child, Preschool);误诊(Diagnostic Errors);女(雌)性(Female);人类(Humans);突变(Mutation);尼曼-皮克病, B型(Niemann-Pick Disease, Type B);尼曼-皮克病(Niemann-Pick Diseases)

DOI 10.1186/s12920-022-01353-2

PMID 36114502

发布时间 2022-10-15

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BMC medical genomics

BMC medical genomics

2022年15卷1期

196页

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