Associated Papers
Congenital sucrase-isomaltase mutations worsen IBS-linked V15F dysfunction and trafficking.
Tannous S et al.
Gut, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
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
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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.
Husein DM et al.
Nutrients, 2019
Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients.
Garcia-Etxebarria K et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2018
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
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
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