Article
Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients.
Experimental biology and medicine (Maywood, N.J.) - 1 Jun 2017
Lu Chun-Ting, Shi Qi-Ping, Li Ze-Jian, Li Jiong, Feng Lie
Abstract excerpt
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a hereditary metabolic disease arising from biallelic mutations of SLC25A13. This study aimed to explore the characteristics of fasting blood glucose (FBG), fasting insulin (FINS) and C-peptide (C-P) levels in NICCD infants, analyze their SLC25A13 genetic mutations and further discuss the correlation between SLC25A13 genetic mutations and...
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