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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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Detalles Bibliográficos
Autores principales:	Su, Chang, Liang, Xue-Jun, Li, Wen-Jing, Wu, Di, Liu, Min, Cao, Bing-Yan, Chen, Jia-Jia, Qin, Miao, Meng, Xi, Gong, Chun-Xiu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6165593/ https://www.ncbi.nlm.nih.gov/pubmed/30306091 http://dx.doi.org/10.1155/2018/2802540

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