Disease: Congenital Sucrase-Isomaltase Deficiency
- 13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients
- 13C-Labeled-Starch Breath Test in Congenital Sucrase-isomaltase Deficiency
- 50 years of progress since congenital sucrase-isomaltase deficiency recognition
- A glutamine to proline exchange at amino acid residue 1098 in sucrase causes a temperature-sensitive arrest of sucrase-isomaltase in the endoplasmic reticulum and cis-Golgi
- A mutation in a highly conserved region in brush-border sucrase-isomaltase and lysosomal alpha-glucosidase results in Golgi retention
- A mutation map for human glycoside hydrolase genes
- A phenylalanine-based folding determinant in intestinal sucrase-isomaltase that functions in the context of a quality control mechanism beyond the endoplasmic reticulum
- 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
- Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency
- Clinical aspects and treatment of congenital sucrase-isomaltase deficiency
- Clinical heterogeneity in congenital sucrase-isomaltase deficiency
- Combined assessment of intestinal disaccharidases in congenital asucrasia by differential urinary disaccharide excretion
- Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency
- Congenital and putatively acquired forms of sucrase-isomaltase deficiency in infancy: effects of sacrosidase therapy
- Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives
- Congenital maltase-glucoamylase deficiency associated with lactase and sucrase deficiencies
- Congenital saccharase-isomaltase defect--diagnostic difficulties
- Congenital sucrase-isomaltase deficiency
- Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme
- Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum
- Congenital sucrase-isomaltase deficiency in Turkiye; a single center experience
- Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis
- 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
- Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment
- Detection of primary and secondary sucrose malabsorption in children by means of the breath hydrogen technique
- 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
- Disaccharidase activities and intestinal absorption in infants with congenital intestinal obstruction
- Disaccharide digestion and maldigestion
- Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency
- Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD
- Evaluation of liquid yeast-derived sucrase enzyme replacement in patients with sucrase-isomaltase deficiency
- Formula allergy and intolerance
- 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
- Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives
- Genetics of sucrose metabolism disorders in different population groups
- Glucose polymer as a cause of protracted diarrhea in infants with unsuspected congenital sucrase-isomaltase deficiency
- Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function
- 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
- Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients
- Index of suspicion. Case 3. Congenital sucrase-isomaltase deficiency
- Inhibition of maltase-glucoamylase activity to hydrolyze α-1,4 linkages by the presence of undigested sucrose
- Interaction of Antipsychotic Drugs with Sucrase, Kinetics and Structural Study
- Interaction of methocarbamol and yeast sucrase induces enzyme inhibition
- Intestinal disaccharidases assessed in congenital asucrasia by differential urinary disaccharide excretion
- Introduction to the 8th Starch Digestion Consortium Workshop
- Loss of Sucrase-Isomaltase Function Increases Acetate Levels and Improves Metabolic Health in Greenlandic Cohorts
- Molecular aspects of disaccharidase deficiencies
- Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder
- Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients
- Mosaic expression of brush-border enzymes in infants with chronic diarrhea and malnutrition
- Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit
- Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption
- Old meets new: identifying founder mutations in genetic disease
- Peripheral gangrene in a congenital sucrase isomaltase deficiency (author's transl)
- Personal experiences of living with sucrose intolerance and attitudes towards genetic research in Greenland - a user study
- 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
- Primary saccharose-isomaltose deficit: a 20-year case load
- Ranitidine induces inhibition and structural changes in sucrase
- 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
- Sacrosidase therapy for congenital sucrase-isomaltase deficiency
- Selected disorders of malabsorption
- 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
- Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female
- Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme
- Sucrase-isomaltase Gene Variants in Patients With Abnormal Sucrase Activity and Functional Gastrointestinal Disorders
- 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 History of Maltose-active Disaccharidases
- The multiple roles of sucrase-isomaltase in the intestinal physiology
- 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)
- Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency
- Two Novel Mutations in the <em>SI</em> Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China
- Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China
- Value of breath hydrogen analysis in management of diarrheal illness in childhood: comparison with duodenal biopsy