Neonatal cholestasis with increased 3β-monohydroxy-δ5 bile acids in serum and urine: Not necessarily primary oxysterol 7α hydroxylase deficiency

Clinica Chimica Acta

Volumn 413, Issue 19-20, 2012, Pages 1700-1704

  Kimura, Akihiko ^a   Nittono, Hiroshi ^b   Mizuochi, Tatsuki ^a   Ueki, Isao ^a   Kurosawa, Takao ^c   Muto, Akina ^b   Takei, Hajime ^b  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Department of Pediatrics and Child Health   (Japan)

^c HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

Author keywords

27 Hydroxycholesterol; 3 Hydroxy 5 cholestenoic acid; Inborn error of bile acid synthesis

Indexed keywords

26 HYDROXYCHOLESTEROL; 3BETA HYDROXY 5 CHOLESTENOIC ACID; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; CHOLESTEROL; GENOMIC DNA; OXYGENASE; OXYSTEROL 7ALPHA HYDROXYLASE; UNCLASSIFIED DRUG;

3BETA HYDOXY DELTA5 C27 STEROID DEHYDROGENASE ISOMERASE DEFICIENCY; ALANINE AMINOTRANSFERASE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BILE ACID BLOOD LEVEL; BILE ACID METABOLISM; BILE ACID SYNTHESIS; CASE REPORT; CHOLESTASIS; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; CYP7B1 GENE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DNA DETERMINATION; FEMALE; GENE; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; MASS FRAGMENTOGRAPHY; OBSTRUCTIVE JAUNDICE; OXYSTEROL 7ALPHA HYDROXYLASE DEFICIENCY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; URINE LEVEL;

3-HYDROXYSTEROID DEHYDROGENASES; ASIAN CONTINENTAL ANCESTRY GROUP; BILE ACIDS AND SALTS; CHOLESTASIS; DNA; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; HYDROXYCHOLESTEROLS; INFANT; ISOMERASES; MALE; SEQUENCE ANALYSIS, DNA; STEROID HYDROXYLASES;

EID: 84864388038     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2012.05.016     Document Type: Article

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