Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants

BMC Gastroenterology

Volumn 12, Issue , 2012, Pages

  Treepongkaruna, Suporn ^a   Jitraruch, Suttiruk ^a   Kodcharin, Porawee ^a   Charoenpipop, Dussadee ^a   Suwannarat, Pim ^a   Pienvichit, Paneeya ^a   Kobayashi, Keiko ^b   Wattanasirichaigoon, Duangrurdee ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

^b KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

AGC2 deficiency; Cholestatic jaundice; Idiopathic neonatal hepatitis; Infantile cholestasis; NICCD; Prevalence

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; ALPHA FETOPROTEIN; ASPARTATE GLUTAMATE CARRIER ISOFORM 2; CARBOXYLIC ACID; CARRIER PROTEIN; CITRULLINE; MESSENGER RNA; SERINE; THREONINE; UNCLASSIFIED DRUG;

AMINO ACID BLOOD LEVEL; AMINO ACID DEFICIENCY; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FATTY LIVER; FEMALE; GENE MUTATION; GENETIC CODE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; INTRAHEPATIC CHOLESTASIS; MALE; MISSENSE MUTATION; NEONATAL INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY; NEWBORN; NEWBORN JAUNDICE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREVALENCE; SLC25A13 GENE; SPLICING DEFECT; THAILAND; URINE LEVEL;

AGE OF ONSET; AMINO ACIDS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CARBOXYLIC ACIDS; CITRULLINEMIA; EXONS; FATTY LIVER; FEMALE; HUMANS; INFANT; INTRONS; MALE; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PREVALENCE; SEQUENCE ANALYSIS, DNA;

EID: 84867365563     PISSN: None     EISSN: 1471230X     Source Type: Journal    
DOI: 10.1186/1471-230X-12-141     Document Type: Article

References (35)

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