Cholestatic liver disease in adults may be due to an inherited defect in bile acid biosynthesis

Journal of Internal Medicine

Volumn 262, Issue 2, 2007, Pages 254-262

  Fischler, B ^a   Bodin, K ^b   Stjernman, H ^c   Olin, M ^a   Hansson, M ^a   Sjovall J ^b   Bjorkhem I ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c RYHOV COUNTY HOSPITAL   (Sweden)

Author keywords

Bile acid synthesis; Cholestasis; Fat malabsorption; Mass spectrometry; Mutation

Indexed keywords

ANTIBIOTIC AGENT; URSODEOXYCHOLIC ACID; VITAMIN D;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BILE ACID SYNTHESIS; BILIARY TRACT DISEASE; BLOOD ANALYSIS; CASE REPORT; ELECTROSPRAY MASS SPECTROMETRY; ENZYME ACTIVITY; FIBROBLAST CULTURE; FOLLOW UP; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERBILIRUBINEMIA; INBORN ERROR OF METABOLISM; INTRAHEPATIC CHOLESTASIS; JAUNDICE; LIVER BIOPSY; LIVER DYSFUNCTION; MALE; PRIORITY JOURNAL; RICKETS; URINALYSIS; URINARY TRACT INFECTION;

3-HYDROXYSTEROID DEHYDROGENASES; ADULT; BILE ACIDS AND SALTS; CELLS, CULTURED; CHOLESTASIS, INTRAHEPATIC; FAMILY HEALTH; FIBROBLASTS; HUMANS; MALE; METABOLISM, INBORN ERRORS; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 34447627374     PISSN: 09546820     EISSN: 13652796     Source Type: Journal    
DOI: 10.1111/j.1365-2796.2007.01814.x     Document Type: Article

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