Bile acid-CoA ligase deficiency-a new inborn error of bile acid metabolism

Journal of Inherited Metabolic Disease

Volumn 35, Issue 3, 2012, Pages 521-530

  Chong, Catherine P K ^a   Mills, Philippa B ^a   McClean, Patricia ^b   Gissen, Paul ^a   Bruce, Christopher ^c   Stahlschmidt, Jens ^b,d   Knisely, A S ^e   Clayton, Peter T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^d ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^e KING S COLLEGE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; AMINOTRANSFERASE; ANTIBIOTIC AGENT; BILE ACID; BILE ACID COENZYME A AMINO ACID N ACYLTRANSFERASE; BILE ACID COENZYME A LIGASE; BILE SALT EXPORT PUMP; GAMMA GLUTAMYLTRANSFERASE; LIGASE; MEMBRANE PROTEIN; MULTIVITAMIN; PROTEIN ABCB11; PROTEIN SLC27A5; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID;

AMIDATION; AMINO ACID SEQUENCE; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; BAAT GENE; BILE ACID BLOOD LEVEL; BILE ACID COENZYME A LIGASE DEFICIENCY; BILE ACID METABOLISM; BILE ACID SYNTHESIS; CASE REPORT; CHILD; CONSANGUINEOUS MARRIAGE; CONSENSUS SEQUENCE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GESTATIONAL AGE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; HYPERBILIRUBINEMIA; INBORN ERROR OF METABOLISM; INFANT; INTRAHEPATIC CHOLESTASIS; JAUNDICE; LIVER BIOPSY; LIVER FIBROSIS; MISSENSE MUTATION; NECROTIZING ENTEROCOLITIS; NORMAL VALUE; PAKISTAN; PARENTERAL NUTRITION; PREMATURITY; PRESCHOOL CHILD; SIBLING; URINE LEVEL;

BILE ACIDS AND SALTS; CHILD, PRESCHOOL; COENZYME A LIGASES; CONSANGUINITY; DNA PRIMERS; DNA RESTRICTION ENZYMES; FATTY ACID TRANSPORT PROTEINS; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; METABOLISM, INBORN ERRORS; MODELS, GENETIC; MUTATION, MISSENSE; PAKISTAN; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84863308887     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9416-3     Document Type: Article

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