Výsledky vyhledávání - "Jianxin Zhuang"

Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia

Autor: Zengmin Wang, Jianxin Zhuang, Guimei Li, Yu Qiao, Xiaohong Shang, Shule Zhang, Yan Sun

Publikováno v: Clinica Chimica Acta. 516:157-168

Background and aims Thiamine-responsive megaloblastic anemia (TRMA), caused by SLC19A2 loss-of-function variants, is characterized by the triad of megaloblastic anemia, progressive sensorineural deafness, and non-type 1 diabetes mellitus. Here, we pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::473b48ceb8a36c9be9e25ce0eb02fa94
https://doi.org/10.1016/j.cca.2021.01.025

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Postimplant complications with transcatheter closure of congenital perimembranous ventricular septal defects: a single-center, longitudinal study from 2002 to 2011

Autor: Jianxin Zhuang, Yulin Wang, Youpeng Jin, Bo Han, Jianjun Zhang, Jinchun Yan

Publikováno v: Catheterization and cardiovascular interventions : official journal of the Society for Cardiac AngiographyInterventions. 81(4)

Background Whether or not to close perimembranous VSDs (pmVSDs) by transcatheter techniques is controversial because of a high rate of complications as compared with surgical alternatives. Objective We report the short- and long-term follow-up result

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::939228e91d0c638dd1206f1e1766a296
https://pubmed.ncbi.nlm.nih.gov/22936471

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