Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid. [electronic resource]
- Journal of inherited metabolic disease Sep 2014
- 851-61 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1573-2665
10.1007/s10545-014-9695-6 doi
Bile Acids and Salts--blood Chenodeoxycholic Acid--therapeutic use Consanguinity Cytochrome P450 Family 7 Humans Infant Liver--pathology Liver Diseases--drug therapy Male Metabolism, Inborn Errors--drug therapy Steroid Hydroxylases--deficiency