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Article

Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea.

Orphanet journal of rare diseases - 19 Dec 2013

Canani Roberto Berni, Terrin Gianluca, Elce Ausilia, Pezzella Vincenza, Heinz-Erian Peter, Pedrolli Annalisa, Centenari Chiara, Amato Felice, Tomaiuolo Rossella, Calignano Antonio, Troncone Riccardo, Castaldo Giuseppe

Abstract excerpt

BACKGROUND: Congenital chloride diarrhea (CLD) is an autosomal recessive disorder characterized by life-long, severe diarrhea with intestinal Cl- malabsorption. It results from a reduced activity of the down regulated in adenoma exchanger (DRA), due to mutations in the solute carrier family 26, m...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24350656
DOI: 10.1186/1750-1172-8-194
PMCID: PMC3878237

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24350656-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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