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Article

Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.

Biochimica et biophysica acta. Molecular basis of disease - 1 Mar 2017

Gericke Birthe, Amiri Mahdi, Scott C Ronald, Naim Hassan Y

Abstract excerpt

BACKGROUND & AIMS: Congenital sucrase-isomaltase deficiency (CSID) is a genetic disorder associated with mutations in the sucrase-isomaltase (SI) gene. The diagnosis of congenital diarrheal disorders like CSID is difficult due to unspecific symptoms and usually requires invasive biopsy sampling of the intestine. Sequencing of the SI gene and molecular analysis of the resulting potentially pathogenic SI protein...

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PMID: 28062276
DOI: 10.1016/j.bbadis.2016.12.017

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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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