Associated Papers
The Associations of Sucrase-Isomaltase Hypomorphic Variants With Long-Term Outcomes and Dietary Intake in an Australian Irritable Bowel Syndrome Population Educated on the FODMAP Diet: A Cross-Sectional and Retrospective Study.
Silva H et al.
United European Gastroenterology Journal, 2026
Congenital sucrase-isomaltase mutations worsen IBS-linked V15F dysfunction and trafficking.
Tannous S et al.
Gut, 2025
Impaired digestive function of sucrase-isomaltase in a complex with the Greenlandic sucrase-isomaltase variant.
Tannous S et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives.
Senftleber NK et al.
The Application of Clinical Genetics, 2023
Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates.
Taskin DG et al.
Journal of Genetics, 2023
Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female.
Chiruvella V et al.
Cureus, 2021
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.
Esposito MV et al.
Diagnostics (basel, Switzerland), 2021
Sucrase-isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders.
Deb C et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China.
Zhou J et al.
Frontiers in Pediatrics, 2021
Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.
Husein DM et al.
Nutrients, 2019
Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.
Henström M et al.
Gut, 2018
Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.
Gericke B et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Use of the Biphasic (13)C-Sucrose/Glucose Breath Test to Assess Sucrose Maldigestion in Adults with Functional Bowel Disorders.
Opekun AR et al.
Biomed Research International, 2016
Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.
Uhrich S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2012
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.
Alfalah M et al.
Gastroenterology, 2009
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
Sander P et al.
Human Mutation, 2006