相似文献
1
Congenital sucrase-isomaltase deficiency: summary of an evaluation in one family.
J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2(0 2):S36. doi: 10.1097/01.mpg.0000421409.65257.fc.
2
Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex.
J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S13-20. doi: 10.1097/01.mpg.0000421402.57633.4b.
3
Congenital sucrase-isomaltase deficiency.
J Pediatr Gastroenterol Nutr. 1995 Jul;21(1):1-14. doi: 10.1097/00005176-199507000-00001.
4
Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.
J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S34-5. doi: 10.1097/01.mpg.0000421408.65257.b5.
5
Clinical aspects and treatment of congenital sucrase-isomaltase deficiency.
J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S7-13. doi: 10.1097/01.mpg.0000421401.57633.90.
6
Starch digestion and patients with congenital sucrase-isomaltase deficiency.
J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S24-8. doi: 10.1097/01.mpg.0000421404.42386.2d.
7
Research progress reported at the 50th Anniversary of the Discovery of Congenital Sucrase-Isomaltase Deficiency Workshop.
J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2(0 2):S1. doi: 10.1097/01.mpg.0000422151.38401.69.
8
Inhibition of maltase-glucoamylase activity to hydrolyze α-1,4 linkages by the presence of undigested sucrose.
J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S45-7. doi: 10.1097/01.mpg.0000421415.95751.f7.
9
50 years of progress since congenital sucrase-isomaltase deficiency recognition.
J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2:S2-7. doi: 10.1097/01.mpg.0000421400.50010.2a.
10
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.
CMAJ. 2015 Feb 3;187(2):102-107. doi: 10.1503/cmaj.140657. Epub 2014 Dec 1.
引用本文的文献
1
Little Patients Big Discoveries: Potential Pediatric to Adult Neurogastroenterology Translation.
Am J Gastroenterol. 2025 Jun 6;120(8):1742-1749. doi: 10.14309/ajg.0000000000003579.
2
Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female.
Cureus. 2021 Apr 7;13(4):e14349. doi: 10.7759/cureus.14349.
3
Hypomorphic SI genetic variants are associated with childhood chronic loose stools.
PLoS One. 2020 May 20;15(5):e0231891. doi: 10.1371/journal.pone.0231891. eCollection 2020.
4
Sucrase-Isomaltase Deficiency as a Potential Masquerader in Irritable Bowel Syndrome.
Dig Dis Sci. 2020 Feb;65(2):534-540. doi: 10.1007/s10620-019-05780-7. Epub 2019 Sep 6.
5
Demographic and Clinical Correlates of Mucosal Disaccharidase Deficiencies in Children With Functional Dyspepsia.
J Pediatr Gastroenterol Nutr. 2018 Jun;66 Suppl 3(Suppl 3):S52-S55. doi: 10.1097/MPG.0000000000001859.
6
The clinical consequences of sucrase-isomaltase deficiency.
Mol Cell Pediatr. 2016 Dec;3(1):5. doi: 10.1186/s40348-015-0028-0. Epub 2016 Feb 8.
本文引用的文献
1
13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients.
J Pediatr Gastroenterol Nutr. 2009 Apr;48(4):412-8. doi: 10.1097/mpg.0b013e318180cd09.
2
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.
Gastroenterology. 2009 Mar;136(3):883-92. doi: 10.1053/j.gastro.2008.11.038. Epub 2008 Nov 19.
3
Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum.
Gastroenterology. 2003 Dec;125(6):1678-85. doi: 10.1053/j.gastro.2003.09.022.
4
METHOD FOR ASSAY OF INTESTINAL DISACCHARIDASES.
Anal Biochem. 1964 Jan;7:18-25. doi: 10.1016/0003-2697(64)90115-0.
5
Human intestinal disaccharidases and hereditary disaccharide intolerance. The hydrolysis of sucrose, isomaltose, palatinose (isomaltulose), and a 1,6-alpha-oligosaccharide (isomalto-oligosaccharide) preparation.
J Clin Invest. 1963 Apr;42(4):556-62. doi: 10.1172/JCI104744.
6
Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.
J Clin Invest. 2000 Jul;106(2):281-7. doi: 10.1172/JCI9677.
7
Breath hydrogen in hyposucrasia.
Lancet. 1976 Jan 17;1(7951):119-20. doi: 10.1016/s0140-6736(76)93157-3.
Zotero 插件