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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 | Index Medicus
Journal Article
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 03/2010, Volume 25, Issue 3, pp. 352 - 358
Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late-onset urea cycle disorders caused by partial enzyme... 
Autism | Inborn errors of metabolism | Mental retardation | Attention-deficit hyperactivity disorder | attention-deficit hyperactivity disorder | inborn errors of metabolism | HYPERAMMONEMIA | PHENOTYPE | autism | CLINICAL NEUROLOGY | HETEROGENEITY | mental retardation | METABOLISM | SYNTHETASE GENE | ORNITHINE TRANSCARBAMYLASE DEFICIENCY | DISEASE | PEDIATRICS | CITRULLINEMIA | MUTATIONS | Mental Disorders - therapy | Follow-Up Studies | Humans | Mental Disorders - metabolism | Child, Preschool | Glutamine - metabolism | Male | Mental Disorders - complications | Ornithine Carbamoyltransferase Deficiency Disease - metabolism | Urea Cycle Disorders, Inborn - therapy | Urea Cycle Disorders, Inborn - complications | Adult | Female | Retrospective Studies | Ornithine Carbamoyltransferase Deficiency Disease - complications | Child | Ornithine Carbamoyltransferase Deficiency Disease - therapy | Citrullinemia - metabolism | Urea Cycle Disorders, Inborn - metabolism | Carbamoyl-Phosphate Synthase I Deficiency Disease - therapy | Treatment Outcome | Citrullinemia - complications | Citrullinemia - therapy | Adolescent | Age of Onset | Quaternary Ammonium Compounds - metabolism | Carbamoyl-Phosphate Synthase I Deficiency Disease - metabolism | Carbamoyl-Phosphate Synthase I Deficiency Disease - complications | Index Medicus
Journal Article
Journal of Clinical Gastroenterology, ISSN 0192-0790, 08/2008, Volume 42, Issue 7, pp. 855 - 860
Journal Article
Journal Article
Journal Article
Obstetrics & Gynecology, ISSN 0029-7844, 02/2014, Volume 123, Issue 2, PART 2 Suppl 2, pp. 480 - 483
BACKGROUND:Abnormal liver function tests are common in pregnancy; however, liver failure is rare. Pregnancy is a catabolic state that can precipitate illness... 
UREA CYCLE DISORDERS | PATIENT | OBSTETRICS & GYNECOLOGY | Pregnancy | Young Adult | Citrullinemia - diagnosis | Diagnosis, Differential | Humans | Liver Failure, Acute - diagnosis | Female | Citrullinemia - complications | Pregnancy Complications - diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Hepatology, ISSN 0168-8278, 2008, Volume 49, Issue 5, pp. 810 - 820
Journal Article
Molecular Therapy, ISSN 1525-0016, 07/2019, Volume 27, Issue 7, pp. 1242 - 1251
Journal Article