Pathogenesis and Management of Citrin Deficiency - Hayasaka, Kiyoshi (Internal Medicine, 2024)
Keywords: adult-onset type 2 citrullinemia; Brain injury; Calcium-Binding Proteins - deficiency; Calcium-Binding Proteins - genetics; Carbohydrates; Cholestasis; Cholestasis, Intrahepatic - etiology; Cholestasis, Intrahepatic - genetics; Cholestasis, Intrahepatic - therapy; citrin; Citrullinemia - diagnosis; Citrullinemia - genetics; Citrullinemia - therapy; Dietary Supplements; Dyslipidemia; Glycolysis; Hepatocytes; Hepatocytes - metabolism; Humans; Lipogenesis; Liver; medium-chain triglycerides; Mitochondrial Membrane Transport Proteins - genetics; Mutation; neonatal intrahepatic cholestasis caused by citrin deficiency; Neonates; Organic Anion Transporters - deficiency; Organic Anion Transporters - genetics; Quality of life; SLC25A13; Triglycerides - metabolism; medium-chain triglycerides; neonatal intrahepatic cholestasis caused by citrin deficiency; citrin; adult-onset type 2 citrullinemia; SLC25A13