Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Organic solute transporter-β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.

Hepatology (Baltimore, Md.) - 1 Aug 2018

Sultan Mutaz, Rao Anuradha, Elpeleg Orly, Vaz Frédéric M, Abu-Libdeh Bassam, Karpen Saul J, Dawson Paul A

Abstract excerpt

Primary bile acid malabsorption is associated with congenital diarrhea, steatorrhea, and a block in the intestinal return of bile acids in the enterohepatic circulation. Mutations in the ileal apical sodium-dependent bile acid transporter (ASBT; SLC10A2) can cause primary bile acid malabsorption but do not appear to account for most familial cases. Another major transporter involved in the intestinal reclamation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bile Acids and Salts
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholestasis

Share to Diarrhea

Share to Exome Sequencing

Share to Membrane Transport Proteins

Share to Pedigree

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 28898457
DOI: 10.1002/hep.29516
PMCID: PMC5847420

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Organic solute transporter-β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.PMID 28898457Read ↗

SLC10A2 deficiency-induced congenital chronic bile acid diarrhea and stunting.Semantic proximity Read ↗

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype.Semantic proximity Read ↗

Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.Semantic proximity Read ↗

Clinical and molecular characterization of four patients with NTCP deficiency from two unrelated families harboring the novel SLC10A1 variant c.595A>C (p.Ser199Arg).Semantic proximity Read ↗

The solute carrier family 10 (SLC10): beyond bile acid transport.Semantic proximity Read ↗

Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.Semantic proximity Read ↗

AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defectSemantic proximity Read ↗

Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.Semantic proximity Read ↗

Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations.Semantic proximity Read ↗

[Childhood cholestasis and bile transporters].Semantic proximity Read ↗

β-Subunit of the Ostα-Ostβ organic solute transporter is required not only for heterodimerization and trafficking but also for function.Semantic proximity Read ↗

Clinical and molecular study of a pediatric patient with sodium taurocholate cotransporting polypeptide deficiencySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.