Associated Papers
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
Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID-19.
Urbanski AH et al.
Journal of Medical Virology, 2025
Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience.
Barut D et al.
Scandinavian Journal of Gastroenterology, 2024
Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights.
Akcan MB et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
Sucrase-isomaltase genotype and response to a starch-reduced and sucrose-reduced diet in IBS-D patients.
Zamfir-Taranu A et al.
Gut, 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
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
The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.
Magistri M et al.
Cancer Research Communications, 2021
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
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
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
Long term differential consequences of miglustat therapy on intestinal disaccharidases.
Amiri M et al.
Journal of Inherited Metabolic Disease, 2014
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