Výsledky vyhledávání - "Denghuan Chen"

Akademický článek

A patient with tumor necrosis factor receptor-associated periodic syndrome misdiagnosed as Kawasaki disease: A case report and literature review

Autor: Yutong Gao, Xiaoliang He, Daliang Xu, Yang Shen, Shouwei Hang, Denghuan Chen, Yuqing Chen

Publikováno v: Heliyon, Vol 9, Iss 9, Pp e19751- (2023)

This article reports a case of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) misdiagnosed as Kawasaki disease and summarizes the clinical features and therapeutic progress of TRAPS and the relationship between its clinical manif

Externí odkaz: https://doaj.org/article/a3cb89e720e7431a91fd259874be6394

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[A case of SIFD syndrome caused by novel compound heterozygous variants of TRNT1 gene]

Autor: Juanjuan, Wang, Xiaoliang, He, Denghuan, Chen, Shouwei, Hang, Yutong, Gao, Xu, Li, Kefei, Hu, Chuanqing, Bai, Yuqing, Chen

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(10)

To detect variant of TRNT1 gene in a child featuring sideroblastic anemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD).The proband and his parents were analyzed through trio-whole exome sequencing. Sanger sequencing and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6b536c42c5f5f320429d8456553acabd
https://pubmed.ncbi.nlm.nih.gov/34625936

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Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene

Autor: Yuqing Chen, Denghuan Chen, Yutong Gao, Juanjuan Wang, Qian Deng, Xiaoliang He, Shouwei Hang

Publikováno v: Clinica chimica acta; international journal of clinical chemistry. 521

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is a serious autosomal recessive genetic disease. So far,40 cases have been reported worldwide, and only one case has been reported in China.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f257b4d7c6eac89e4582cb217d9ff6f
https://pubmed.ncbi.nlm.nih.gov/34310935

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