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International Journal of Clinical and Experimental Pathology, ISSN 1936-2625, 2017, Volume 10, Issue 3, pp. 3480 - 3487
Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder, which is caused by pathogenic... 
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), novel mutation | Next generation sequencing | Target sequence capture | SLC25A13 | target sequence capture | ONCOLOGY | novel mutation | MUTATION | neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) | PATHOLOGY
Journal Article
Pediatric Transplantation, ISSN 1397-3142, 11/2010, Volume 14, Issue 7, pp. E86 - E88
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2004, Volume 83, Issue 3, pp. 213 - 219
A deficiency of citrin, which is encoded by the gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). We... 
Citrullinemia | Newborn screening | Fatty liver | Neonatal intrahepatic cholestasis | Citrin deficiency | MEDICINE, RESEARCH & EXPERIMENTAL | SLC25A13 MUTATIONS | LIVER-TRANSPLANTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | fatty liver | IDENTIFICATION | neonatal intrahepatic cholestasis | GENE | GENETICS & HEREDITY | citrullinemia | citrin deficiency | II CITRULLINEMIA CTLN2 | newborn screening | Amino Acids - blood | Liver - pathology | Bile Acids and Salts - blood | Humans | Blood Coagulation Factors | Tyrosinemias - pathology | Infant | Male | Hypoglycemia - pathology | Mitochondrial Proteins - genetics | Biliary Atresia - complications | Hypoproteinemia - pathology | Hypoproteinemia - complications | Mitochondrial Membrane Transport Proteins | Organic Anion Transporters - deficiency | DNA Mutational Analysis | Membrane Transport Proteins - genetics | Anemia, Hemolytic - complications | Galactose - blood | Female | Cholestasis, Intrahepatic - complications | Citrullinemia - pathology | Infant, Newborn | Cholestasis, Intrahepatic - genetics | Anemia, Hemolytic - pathology | Cholestasis, Intrahepatic - pathology | Hepatitis - pathology | Calcium-Binding Proteins - deficiency | Citrullinemia - complications | DNA Primers | Vitamins - therapeutic use | Food, Formulated | Tyrosinemias - complications | Hepatitis - complications | Hypoglycemia - complications | Biliary Atresia - parasitology | Cholestasis, Intrahepatic - diet therapy
Journal Article
Journal Article
Chinese Journal of Contemporary Pediatrics, ISSN 1008-8830, 04/2011, Volume 13, Issue 4, pp. 303 - 308
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 02/2019, Volume 36, Issue 2, pp. 116 - 119
Journal Article
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