A difficult and complicated case study: Neonatal intrahepatic cholestasis caused by citrin deficiency

Chinese Journal of Contemporary Pediatrics

Volumn 8, Issue 2, 2006, Pages 125-128

  Song, Yuan Zong ^a   Hao, Hu ^a   Ushikai, Miharu ^a   Liu, Guo Sheng ^a   Xiao, Xin ^a   Saheki, Takeyoki ^a   Kobayashi, Keiko ^a   Wang, Zi Neng ^a  

^a JINAN UNIVERSITY   (China)

Author keywords

AFP; Citrin; Citrulline; Neonatal intrahepatic cholestasis

Indexed keywords

ALANINE AMINOTRANSFERASE; ALBUMIN; ALKALINE PHOSPHATASE; ALPHA FETOPROTEIN; ALPHA TOCOPHEROL; AMMONIA; ARGININE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; BILIRUBIN GLUCURONIDE; CHOLESTEROL; CITRULLINE; ERIODICTYOL 7 O GLUCOSIDE; FATTY ACID; FIBRINOGEN; GALACTITOL; GALACTOSE; LACTIC ACID; MEDIUM CHAIN FATTY ACID; METHIONINE; MITOCHONDRIAL PROTEIN; MULTIVITAMIN; ORGANIC ANION TRANSPORTER; RETINOL; THREONINE; TRIACYLGLYCEROL; TYROSINE; UNCLASSIFIED DRUG; VITAMIN D; VITAMIN K GROUP;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DIET THERAPY; FOLLOW UP; GALACTOSEMIA; GAS CHROMATOGRAPHY; GENE MUTATION; GLUCONEOGENESIS; GLYCOLYSIS; HEPATOMEGALY; HETEROZYGOSITY; HUMAN; HYPERAMMONEMIA; HYPERLACTATEMIA; HYPERLIPIDEMIA; HYPOGLYCEMIA; HYPOPROTEINEMIA; INBORN ERROR OF METABOLISM; INFANT; INTRAHEPATIC CHOLESTASIS; JAUNDICE; LIVER DYSFUNCTION; LIVER FUNCTION TEST; MALE; METABOLIC DISORDER; MUTATIONAL ANALYSIS; NEONATAL INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY; NUCLEOTIDE METABOLISM; PROTEIN ANALYSIS; PROTEIN BLOOD LEVEL; PROTEIN FUNCTION; PROTEIN SYNTHESIS; TANDEM MASS SPECTROMETRY; TREATMENT OUTCOME; TREATMENT RESPONSE; UREA CYCLE; URINALYSIS;

CALCIUM-BINDING PROTEINS; CHOLESTASIS, INTRAHEPATIC; HUMANS; INFANT; MALE; METABOLISM, INBORN ERRORS; ORGANIC ANION TRANSPORTERS;

EID: 33646175950     PISSN: 10088830     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

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