Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7α-hydroxylase gene

Journal of Pediatric Gastroenterology and Nutrition

Volumn 46, Issue 4, 2008, Pages 465-469

  Ueki, Isao ^a   Kimura, Akihiko ^a   Nishiyori, Atsushi ^a   Chen, Huey Ling ^d   Takei, Hajime ^b   Nittono, Hiroshi ^b   Kurosawa, Takao ^c  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Junshin Clinic   (Japan)

^c HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

^d NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

OXYSTEROL 7 ALPHA HYDROXYLASE; STEROID MONOOXYGENASE; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID;

ANAMNESIS; ARTICLE; ASIAN; BILE ACID SYNTHESIS; CASE REPORT; CLINICAL FEATURE; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; INTRAHEPATIC CHOLESTASIS; LABORATORY TEST; LIVER BIOPSY; MALE; NEWBORN DISEASE; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

BILE ACIDS AND SALTS; CHOLESTASIS; CHOLESTEROL; CYTOCHROME P-450 ENZYME SYSTEM; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; LIVER TRANSPLANTATION; MALE; METABOLISM, INBORN ERRORS; MICROSOMES, LIVER; MUTATION; STEROID HYDROXYLASES;

EID: 41449114765     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e31815a9911     Document Type: Article

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