Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients
作者： Chun-Ting Lu , Qi-Ping Shi , Ze-Jian Li , Jiong Li , Lie Feng
关键词:
摘要: 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 (CP) levels in NICCD infants, analyze their SLC25A13 genetic mutations and further discuss the correlation between SLC25A13 genetic mutations and biochemical changes. Seventy-two cases of infants with cholestasis disease were gathered. Among them, 36 cases with NICCD …
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