A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional study

Molecular Genetics and Metabolism

Volumn 104, Issue 4, 2011, Pages 501-506

  Fiermonte, Giuseppe ^a   Parisi, Giovanni ^a   Martinelli, Diego ^b   De Leonardis, Francesco ^a   Torre, Giuliano ^b   Pierri, Ciro Leonardo ^a   Saccari, Alessia ^b   Lasorsa, Francesco Massimo ^a   Vozza, Angelo ^a   Palmieri, Ferdinando ^a   Dionisi Vici, Carlo ^b  

^a UNIVERSITY OF BARI   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Aspartate glutamate carrier; NICCD; Urea cycle defect

Indexed keywords

AGC2 PROTEIN; ALPHA FETOPROTEIN; AMMONIA; ASPARTATE AMINOTRANSFERASE; GLUCOSE; GLUTAMIC ACID; GLYCINE; LACTIC ACID; MUTANT PROTEIN; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID;

AMINO ACID SUBSTITUTION; AMMONIA BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CASE REPORT; CAUCASIAN; CHILD; CHOLESTASIS; CITRIN DEFICIENCY; CLINICAL STUDY; ECHOGRAPHY; ENZYME DEFICIENCY; ETHNIC GROUP; FECES ANALYSIS; FOLLOW UP; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GLUCOSE BLOOD LEVEL; HUMAN; HYPERBILIRUBINEMIA; INFANT; INTRAHEPATIC CHOLESTASIS; JAUNDICE; LACTATE BLOOD LEVEL; MALE; METABOLIC DISORDER; NEONATAL INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY; PALPATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DIET; ROMANIA; VITAMIN SUPPLEMENTATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; BINDING SITES; CITRULLINEMIA; CONSERVED SEQUENCE; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; INFANT; MALE; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 82255179420     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.08.022     Document Type: Article

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