Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: Outcome at one year of life

Singapore Medical Journal

Volumn 51, Issue 1, 2010, Pages

  Thong, M K ^a   Boey, C C M ^b   Sheng, J S ^c   Ushikai, M ^c   Kobayashi, K ^c  

^a UNIVERSITY OF MALAYA   (Malaysia)

^b Hepatology and Nutrition Unit   (United Kingdom)

^c KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Citrin deficiency; Citrullinaemia type 2; Metabolic liver disease; Molecular genetics; Neonatal intrahepatic cholestasis; Neonatal jaundice; Prolonged jaundice

Indexed keywords

CITRULLINE; SUGAR;

ANAMNESIS; ARTICLE; BILE DUCT ATRESIA; CASE REPORT; DIET SUPPLEMENTATION; FEMALE; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; INFANT; INTRAHEPATIC CHOLESTASIS; MALAYSIA; NEONATAL INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY; NEWBORN JAUNDICE; PERIODIC MEDICAL EXAMINATION; PHYSICAL EXAMINATION; SIBLING;

CALCIUM-BINDING PROTEINS; CHILD, PRESCHOOL; CHOLESTASIS, INTRAHEPATIC; DIET THERAPY; FEMALE; GENE DELETION; GENETIC COUNSELING; HUMANS; INFANT; MALAYSIA; METABOLISM, INBORN ERRORS; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; ORGANIC ANION TRANSPORTERS; SIBLINGS;

EID: 77950412956     PISSN: 00375675     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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