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83 results on '"congenital sucrase-isomaltase deficiency"'

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2. Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function

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3. The effect of sucrase-isomaltase deficiency on metabolism, food intake and preferences: protocol for a dietary intervention study.

4. Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives

5. The effect of sucrase-isomaltase deficiency on metabolism, food intake and preferences: protocol for a dietary intervention study

6. Nutritional and Physiological Constraints Contributing to Limitations in Small Intestinal Starch Digestion and Glucose Absorption in Ruminants.

7. The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency.

8. The effect of sucrase-isomaltase deficiency on metabolism, food intake and preferences:protocol for a dietary intervention study

9. Genetic Loss of Sucrase-Isomaltase Function:Mechanisms, Implications, and Future Perspectives

10. Congenital sucrase–isomaltase deficiency: A case report

11. The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucrase-isomaltase deficiency

12. Two Novel Mutations in the SI Gene Associated With Congenital Sucrase-Isomaltase Deficiency: A Case Report in China

14. Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female

15. Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency

17. Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency

19. Hypomorphic SI genetic variants are associated with childhood chronic loose stools

20. (13)C-Labeled-Starch Breath Test in Congenital Sucrase-Isomaltase Deficiency

21. Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients

22. Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization

23. Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation

24. Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.

25. Congenital sucrase–isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy

26. Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients

27. Clinical Aspects and Treatment of Congenital Sucrase-Isomaltase Deficiency

28. 50 Years of Progress Since Congenital Sucrase-Isomaltase Deficiency Recognition

29. Congenital Sucrase-Isomaltase Deficiency

30. Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.

31. Compound Heterozygous Mutations Affect Protein Folding and Function in Patients With Congenital Sucrase-Isomaltase Deficiency

32. Sacrosidase Trial in Chronic Nonspecific Diarrhea in Children

33. Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum

34. Congenital Sucrase-Isomaltase Deficiency

35. Our Cases with Sucrase Isomaltase Deficiency

36. Prevalence of Known Congenital Sucrase-Isomaltase Deficiency Gene Mutations in Children with Functional Abdominal Pain and/or Functional Diarrhea

37. Congenital sucrase-isomaltase deficiency: A case report

38. Sacrosidase Therapy for Congenital Sucrase-Isomaltase Deficiency

39. Glucose polymer as a cause of protracted diarrhea in infants with unsuspected congenital sucrase-isomaltase deficiency

40. 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

41. Congenital Sucrase-Isomaltase Deficiency: Summary of an Evaluation in One Family

42. 13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients

43. MG-107 Congenital sucrase-isomaltase deficiency: Identification of the common inuit founder mutation

44. Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency

46. Four Mutations in the SI Gene Are Responsible for the Majority of Clinical Symptoms of CSID

47. Transient Sucrose and Starch Intolerance

48. Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme

49. Analysis of a naturally occurring mutation in sucrase-isomaltase: glutamine 1098 is not essential for transport to the surface of COS-1 cells

50. Congenital sucrase-isomaltase deficiency: an under-diagnosed disease in Chinese children