Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system

Journal of Pediatrics

Volumn 161, Issue 4, 2012, Pages

  Chen, Szu Ta ^a   Su, Yi Ning ^a   Ni, Yen Hsuan ^a   Hwu, Wuh Liang ^a   Lee, Ni Chung ^a   Chien, Yin Hsiu ^a   Chang, Cheng Chi ^b   Chen, Huey Ling ^a   Chang, Mei Hwei ^a  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CARRIER PROTEIN; ERIODICTYOL 7 O GLUCOSIDE; GAMMA GLUTAMYLTRANSFERASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BILE DUCT ATRESIA; BILIRUBIN BLOOD LEVEL; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIARRHEA; EXON; FEMALE; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HIGH RESOLUTION MELTING ANALYSIS; HOMOZYGOSITY; HUMAN; INTRAHEPATIC CHOLESTASIS; JAUNDICE; MALE; NEONATAL INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY; NEWBORN; NEWBORN DISEASE; NUCLEOTIDE SEQUENCE; PREDICTIVE VALUE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTHROMBIN TIME; SINGLE NUCLEOTIDE POLYMORPHISM; TAIWAN;

EID: 84866729980     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2012.03.038     Document Type: Article

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