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Article

Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation.

Acta paediatrica (Oslo, Norway : 1992) - 1 Jun 2012

Dechant Markus-Johann, Wedenoja Satu, Höglund Pia, Prange-Schmidt Susanne, Zimmer Klaus-Peter, Heckmann Matthias

Abstract excerpt

UNLABELLED: Congenital chloride diarrhoea (CLD) is a rare autosomal recessive disease with chronic secretory diarrhoea and a need for lifelong salt replacement therapy. We describe a male newborn of consanguineous parents with CLD. Postnatally, frequent watery diarrhoea and electrolyte disturbanc...

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Identifiers

PMID: 22277064
DOI: 10.1111/j.1651-2227.2012.02610.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22277064-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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