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Article

Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.

Scandinavian journal of gastroenterology - 1 Jun 2024

Barut Doğan, Kıran Taşcı Ezgi, Kunay Bora, Güven Burcu, Aksoy Betül, Çağan Appak Yeliz, Karakoyun Miray, Çetin Funda, Selimoğlu Ayşe, Onay Huseyin, Aydoğdu Sema

Abstract excerpt

BACKGROUND: Congenital sucrase-isomaltase deficiency (CSID) is a rare inherited carbohydrate malabsorption disorder caused by sucrase-isomaltase (SI) gene variants. In CSID, an autosomal recessively inherited disease, symptoms can also be seen in individuals with heterozygous mutations. METHODS: The variant spectrum was evaluated retrospectively in individuals who presented with chronic diarrhea between 2014 and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 38459691
DOI: 10.1080/00365521.2024.2324961

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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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