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Article

Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.

Human mutation - 1 Jan 2006

Sander Petra, Alfalah Marwan, Keiser Markus, Korponay-Szabo Ilma, Kovács Judit B, Leeb Tosso, Naim Hassan Y

Abstract excerpt

Disaccharide intolerance I or congenital sucrase-isomaltase deficiency (CSID) is a disorder leading to maldigestion of disaccharides, which is autosomal recessively inherited. Here we analyzed the sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency. Variants in the SI gene had previously been described in CSID patients, which cause amino acid exchanges...

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Identifiers

PMID: 16329100
DOI: 10.1002/humu.9392

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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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