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Molecular Genetics and Metabolism, ISSN 1096-7192, 2009, Volume 97, Issue 1, pp. 21 - 26
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) shows diverse metabolic abnormalities such as urea cycle dysfunction together with... 
Carbohydrates | Oxidative stress | Hypercholesterolemia | Neonatal intrahepatic cholestasis caused by citrin deficiency | Adult-onset type II citrullinemia | Aspartate/glutamate carrier isoform 2-citrin | Amino acids | Silent period | MEDICINE, RESEARCH & EXPERIMENTAL | INTRACELLULAR REDOX STATE | SERUM | IDENTIFICATION | CITRIN DEFICIENCY | DENSITY-LIPOPROTEIN | DISEASE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | NITRIC-OXIDE | II CITRULLINEMIA | MUTATIONS | MANIFESTATIONS | Amino Acids - blood | Liver - pathology | Biomarkers - urine | Oxidative Stress | Humans | Child, Preschool | Infant | Male | Liver - physiopathology | Carbohydrates - blood | Mitochondrial Membrane Transport Proteins | Membrane Transport Proteins - deficiency | Fasting - blood | Citrullinemia - blood | Female | Urea - metabolism | Mitochondrial Proteins - deficiency | Child | Liver Function Tests | Hypercholesterolemia - blood | Japan | Vitamin E - blood | Lipid Metabolism | Citrullinemia - complications | Apolipoproteins - blood | Asian Continental Ancestry Group | Citrullinemia - physiopathology | Hypercholesterolemia - complications | Hypercholesterolemia - physiopathology | Nitric Oxide - metabolism | Medical colleges | Blood sugar | Guanosine | Low density lipoproteins | Nitrogen compounds | Glutamate | Cholesterol | Lactates | Urea | Metabolites | Analysis | Nitric oxide | Medical genetics | Children | Galactose | Acids
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Gene, ISSN 0378-1119, 09/2012, Volume 505, Issue 2, pp. 269 - 275
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