Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients

Objective. To characterize the genotype and phenotype of Chinese patients with congenital hyperinsulinism (CHI) caused by activating mutations in GLUD1, the gene that encodes mitochondrial enzyme glutamate dehydrogenase (GDH). Methods. The clinical data of glutamate dehydrogenase hyperinsulinism (GD...

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Bibliographic Details
Main Authors: Chang Su, Xue-Jun Liang, Wen-Jing Li, Di Wu, Min Liu, Bing-Yan Cao, Jia-Jia Chen, Miao Qin, Xi Meng, Chun-Xiu Gong
Format: Article
Language:English
Published: Hindawi Limited 2018-01-01
Series:Journal of Diabetes Research
Online Access:http://dx.doi.org/10.1155/2018/2802540