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Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype.

Digestive diseases (Basel, Switzerland) - 1 Jan 2017

Vaz Frédéric M, Huidekoper Hidde H, Paulusma Coen C

Abstract excerpt

We present the first patient with a defect in the Na+-taurocholate cotransporting polypeptide SLC10A1 (NTCP), which plays a key role in the enterohepatic circulation of bile salts. The clinical presentation of the child was mild and the child showed no signs of liver dysfunction or pruritus despite extremely elevated plasma bile salt levels (>100-fold upper-limit of normal). A homozygous point mutation was found...

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PMID: 28249272
DOI: 10.1159/000450984

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