Diagnosis of the first japanese patient with 3-oxo-Δ4-steroid 5β- reductase deficiency by use of immunoblot analysis

European Journal of Pediatrics

Volumn 157, Issue 5, 1998, Pages 386-390

  Kimura, A ^a   Kondo, K H ^b   Okuda, K I ^b   Higashi, S ^b   Suzuki, M ^c   Kurosawa, T ^c   Tohma, M ^c   Inoue, T ^a   Nishiyori, A ^a   Yoshino, M ^a   Kato, H ^a   Setoguchi, T ^b  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF MIYAZAKI   (Japan)

^c HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

Author keywords

3 oxo 4 bile acid; 3 Oxo 4 steroid 5 reductase deficiency; Immunoblot analysis

Indexed keywords

BILE ACID; STEROID 5BETA REDUCTASE;

ARTICLE; BILE ACID METABOLISM; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; HUMAN; IMMUNOBLOTTING; INFANT; LIVER FAILURE; MALE; MASS SPECTROMETRY; PRIORITY JOURNAL;

AMINO ACID METABOLISM, INBORN ERRORS; BILE ACIDS AND SALTS; BIOPSY; CHOLESTASIS; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; IMMUNOBLOTTING; INFANT; JAPAN; LIVER; MALE; METABOLISM, INBORN ERRORS; OXIDOREDUCTASES; TYROSINE;

EID: 7144259756     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050835     Document Type: Article

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