Gao, E;
Cheema, H;
Waheed, N;
Mushtaq, I;
Erden, N;
Nelson-Williams, C;
Jain, D;
... Vilarinho, S; + view all
(2020)
OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea.
Hepatology
, 71
(5)
pp. 1879-1882.
10.1002/hep.31087.
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Abstract
Solute carrier family 51 alpha subunit (SLC51A ) encodes the alpha subunit of the heteromeric organic solute transporter alpha–beta (OSTα–OSTβ), an important contributor to intestinal bile acid (BA) reabsorption in the enterohepatic circulation.1, 2 Here, we identified the first case of OSTα deficiency in a child with unexplained elevated liver transaminases, cholestasis, and congenital diarrhea.
| Type: | Article |
|---|---|
| Title: | OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/hep.31087 |
| Publisher version: | https://doi.org/10.1002/hep.31087 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10088739 |
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