Disease: Congenital sucrose isomaltose malabsorption
- 13C-Labeled-Starch Breath Test in Congenital Sucrase-isomaltase Deficiency
- 50 years of progress since congenital sucrase-isomaltase deficiency recognition
- A starch- and sucrose-reduced diet may lead to improvement of intestinal and extraintestinal symptoms in more conditions than irritable bowel syndrome and congenital sucrase-isomaltase deficiency
- Adult sucrase-isomaltase deficiency masquerading as IBS
- Clinical aspects and treatment of congenital sucrase-isomaltase deficiency
- Congenital sucrase-isomaltase deficiency in Türkiye; a single center experience
- Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization
- Congenital sucrase-isomaltase deficiency: an under-diagnosed disease in Chinese children
- Congenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy
- Congenital sucrase-isomaltase deficiency: diet assessment and education guidelines
- Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex
- Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation
- Congenital Sucrase-Isomaltase Deficiency: Same Mutation with Different Clinical Presentations
- Congenital sucrase-isomaltase deficiency: summary of an evaluation in one family
- Diagnosing sucrase-isomaltase deficiency: a comparison of a <sup>13</sup>C-sucrose breath test and a duodenal enzyme assay
- Diarrhea caused by carbohydrate malabsorption
- Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency
- Direct starch digestion by sucrase-isomaltase and maltase-glucoamylase
- Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD
- Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID
- Frequency of sucrase deficiency in mucosal biopsies
- Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome
- Genetic and acquired sucrase-isomaltase deficiency: A clinical review
- Genetics of sucrose metabolism disorders in different population groups
- Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency
- Hypomorphic SI genetic variants are associated with childhood chronic loose stools
- Impaired digestive function of sucrase-isomaltase in a complex with the Greenlandic sucrase-isomaltase variant
- Improved Starch Digestion of Sucrase-deficient Shrews Treated With Oral Glucoamylase Enzyme Supplements
- Inhibition of maltase-glucoamylase activity to hydrolyze α-1,4 linkages by the presence of undigested sucrose
- INTESTINAL DISACCHARIDASE ACTIVITY IN CONGENITAL MALABSORPTION OF SUCROSE AND ISOMALTOSE
- Intestinal sucrase and isomaltase deficiency in two siblings
- Introduction to the 8th Starch Digestion Consortium Workshop
- Loss of Sucrase-Isomaltase Function Increases Acetate Levels and Improves Metabolic Health in Greenlandic Cohorts
- Malabsorption of carbohydrates in children (author's transl)
- Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients
- Old meets new: identifying founder mutations in genetic disease
- Phenotypic observations by the CSID Dietary and Medical Support Group
- Poor starch digestion in children with CSID and recurrent abdominal pain
- Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates
- Relationships among Dietary Intakes and Persistent Gastrointestinal Symptoms in Patients Receiving Enzyme Treatment for Genetic Sucrase-Isomaltase Deficiency
- Research progress reported at the 50th Anniversary of the Discovery of Congenital Sucrase-Isomaltase Deficiency Workshop
- Severe pathogenic variants of intestinal sucrase-isomaltase interact avidly with the wild type enzyme and negatively impact its function and trafficking
- Starch digestion and patients with congenital sucrase-isomaltase deficiency
- Sucrase-Isomaltase Deficiency as a Potential Masquerader in Irritable Bowel Syndrome
- Taking candy from the baby
- The effect of sucrase-isomaltase deficiency on metabolism, food intake and preferences: protocol for a dietary intervention study
- The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucrase-isomaltase deficiency
- The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency
- The relationship between serum iron levels and AChR-Ab and IL-6 in patients with myasthenia gravis
- The Role of Disaccharidase Deficiencies in Functional Abdominal Pain Disorders-A Narrative Review
- Theories behind the effect of starch‑ and sucrose‑reduced diets on gastrointestinal symptoms in irritable bowel syndrome (Review)