https://scholars.lib.ntu.edu.tw/handle/123456789/638384
標題: | Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism | 作者: | CHENG-TING LEE Tsai, Wen-Hao Chang, Chien-Ching Chen, Pei-Chun Fann, Cathy Shen-Jang Chang, Hsueh-Kai SHIH-YAO LIU MU-ZON WU Chiu, Pao-Chin WEN-MING HSU WEI-SHIUNG YANG LING-PING LAI Tsai, Wen-Yu Yang, Shi-Bing Chen, Pei-Lung |
關鍵字: | ABCC8; GCK; KATP channel; KCNJ11; congenital hyperinsulinism; founder mutation | 公開日期: | 2023 | 卷: | 14 | 來源出版物: | Frontiers in endocrinology | 摘要: | Congenital hyperinsulinism (CHI) is a group of clinically and genetically heterogeneous disorders characterized by dysregulated insulin secretion. The aim of the study was to elucidate genetic etiologies of Taiwanese children with the most severe diazoxide-unresponsive CHI and analyze their genotype-phenotype correlations. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/638384 | ISSN: | 1664-2392 | DOI: | 10.3389/fendo.2023.1283907 |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。