Associated Papers
De novo mutation loci and clinical analysis in a child with sodium taurocholate cotransport polypeptide deficiency: A case report.
Liu HY et al.
World Journal of Clinical Cases, 2021
Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg).
Li H et al.
Molecular Medicine Reports, 2019
Intrahepatic Cholestasis of Pregnancy as a Clinical Manifestation of Sodium-Taurocholate Cotransporting Polypeptide Deficiency.
Chen R et al.
The Tohoku Journal of Experimental Medicine, 2019
Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.
Liu R et al.
Scientific Reports, 2017
NTCP deficiency and persistently raised bile salts: an adult case.
Van Herpe F et al.
Journal of Inherited Metabolic Disease, 2017
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