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
Genetic sucrase-isomaltase deficiency: epidemiology, clinical spectrum, and diagnostic challenge.
Demir E et al.
Scandinavian Journal of Gastroenterology, 2026
Congenital sucrase-isomaltase mutations worsen IBS-linked V15F dysfunction and trafficking.
Tannous S et al.
Gut, 2025
Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.
Barut D et al.
Scandinavian Journal of Gastroenterology, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer.
Hurst ZA et al.
Thyroid : Official Journal of the American Thyroid Association, 2024
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 Variants in Carbohydrate Digestive Enzyme and Transport Genes Associated with Risk of Irritable Bowel Syndrome.
Hong H et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives.
Senftleber NK et al.
The Application of Clinical Genetics, 2023
TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.
Tung ML et al.
Genes, 2022
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Arnadottir GA et al.
Nature Communications, 2022
The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucrase-isomaltase deficiency.
Hoter A et al.
International Journal of Biological Macromolecules, 2021
Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female.
Chiruvella V et al.
Cureus, 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
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
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
Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.
Haberman Y et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
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
The clinical consequences of sucrase-isomaltase deficiency.
Cohen SA
Molecular and Cellular Pediatrics, 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