Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid

Journal of Inherited Metabolic Disease

Volumn 37, Issue 5, 2014, Pages 851-861

  Dai, Dongling ^a,b   Mills, Philippa B ^a   Footitt, Emma ^a   Gissen, Paul ^a   McClean, Patricia ^c   Stahlschmidt, Jens ^c   Coupry, Isabelle ^d   Lavie, Julie ^d   Mochel, Fanny ^e   Goizet, Cyril ^d,f   Mizuochi, Tatsuki ^g   Kimura, Akihiko ^g   Nittono, Hiroshi ^h   Schwarz, Karin ⁱ   Crick, Peter J ^j   Wang, Yuqin ^j   Griffiths, William J ^j   Clayton, Peter T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b SHENZHEN CHILDREN'S HOSPITAL   (China)

^c LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^d HÔPITAL PELLEGRIN   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f BORDEAUX UNIVERSITY HOSPITAL   (France)

^g KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h Junshin Clinic Bile Acid Institute   (Japan)

ⁱ CRH   (United Kingdom)

^j SWANSEA UNIVERSITY   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID; CHENODEOXYCHOLIC ACID; CYP7B1 PROTEIN, HUMAN; CYTOCHROME P450 FAMILY 7; STEROID MONOOXYGENASE;

BLOOD; CASE REPORT; CONSANGUINITY; DEFICIENCY; ENZYMOLOGY; GENETICS; HUMAN; INFANT; LIVER; LIVER DISEASES; MALE; METABOLISM, INBORN ERRORS; PATHOLOGY; URINE;

BILE ACIDS AND SALTS; CHENODEOXYCHOLIC ACID; CONSANGUINITY; CYTOCHROME P450 FAMILY 7; HUMANS; INFANT; LIVER; LIVER DISEASES; MALE; METABOLISM, INBORN ERRORS; STEROID HYDROXYLASES;

EID: 84896412385     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9695-6     Document Type: Article

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