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Article

Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations.

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology - 1 Apr 2024

İryancı Fatma İssi, Güven Burcu, Çakır Murat

Abstract excerpt

BACKGROUND/AIMS: Congenital sucrase-isomaltase deficiency is an autosomal recessive inherited disaccharidase deficiency characterized by chronic osmotic diarrhea. In this study, the genotype-phenotype relationships of close relatives of an index case with congenital sucrase-isomaltase deficiency were investigated. MATERIALS AND METHODS: A 23-month-old female patient with a sucrase-isomaltase gene c.317G>A...

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Identifiers

PMID: 39128102
DOI: 10.5152/tjg.2024.23250
PMCID: PMC11114242

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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