Associated Papers
Treatment of Inborn Errors by Product Replacement: The Example of Inborn Errors of Bile Acid Synthesis.
Clayton PT et al.
Journal of Inherited Metabolic Disease, 2025
The effectiveness of correcting abnormal metabolic profiles.
Clayton PT
Journal of Inherited Metabolic Disease, 2020
Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature.
Wang HH et al.
World Journal of Gastroenterology, 2018
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
Morgan NV et al.
Orphanet Journal of Rare Diseases, 2013
Select a paper to view details