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Congenital sucrase-isomaltase deficiency: summary of an evaluation in one family.

作者信息

Chumpitazi Bruno P, Robayo-Torres Claudia C, Opekun Antone R, Nichols Buford L, Naim Hassan Y

机构信息

Department of Pediatrics, Baylor College of Medicine, 6701 Fannin St, Houston, TX 77030, USA.

出版信息

J Pediatr Gastroenterol Nutr. 2012 Nov;55 Suppl 2(0 2):S36. doi: 10.1097/01.mpg.0000421409.65257.fc.

DOI:10.1097/01.mpg.0000421409.65257.fc

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4277877/

Abstract

摘要

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[2]

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

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[3]

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

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[4]

Sucrase-Isomaltase Deficiency as a Potential Masquerader in Irritable Bowel Syndrome.

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[5]

Demographic and Clinical Correlates of Mucosal Disaccharidase Deficiencies in Children With Functional Dyspepsia.

J Pediatr Gastroenterol Nutr. 2018-6

[6]

The clinical consequences of sucrase-isomaltase deficiency.

Mol Cell Pediatr. 2016-12

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. 2009-4

[2]

Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.

Gastroenterology. 2009-3

[3]

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

Gastroenterology. 2003-12

[4]

METHOD FOR ASSAY OF INTESTINAL DISACCHARIDASES.

Anal Biochem. 1964-1

[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. 1963-4

[6]

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

J Clin Invest. 2000-7

[7]

Breath hydrogen in hyposucrasia.

Lancet. 1976-1-17

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