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 deficiency in Türkiye; a single center experience.
Barut D et al.
Scandinavian Journal of Gastroenterology, 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
38535124 (PubMed )
Supplement: IJNS-10-00020-s001.zip › 20231205_Supplementary_files_definitief_nieuwerefs.pdf
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
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table2
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
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat5
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
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants
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