Literature DB >> 23103651

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

Bruno P Chumpitazi1, Claudia C Robayo-Torres, Antone R Opekun, Buford L Nichols, Hassan Y Naim.   

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Year:  2012        PMID： 23103651      PMCID： PMC4277877          DOI： 10.1097/01.mpg.0000421409.65257.fc

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  7 in total

1.  METHOD FOR ASSAY OF INTESTINAL DISACCHARIDASES.

Authors:  A DAHLQVIST
Journal:  Anal Biochem       Date:  1964-01       Impact factor: 3.365

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

Authors:  R Jacob; K P Zimmer; J Schmitz; H Y Naim
Journal:  J Clin Invest       Date:  2000-07       Impact factor: 14.808

3.  Breath hydrogen in hyposucrasia.

Authors:  G Metz; D J Jenkins; A Newman; L M Blends
Journal:  Lancet       Date:  1976-01-17       Impact factor: 79.321

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

Authors:  Valentina Ritz; Marwan Alfalah; Klaus-Peter Zimmer; Jacques Schmitz; Ralf Jacob; Hassan Y Naim
Journal:  Gastroenterology       Date:  2003-12       Impact factor: 22.682

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

Authors:  Marwan Alfalah; Markus Keiser; Tosso Leeb; Klaus-Peter Zimmer; Hassan Y Naim
Journal:  Gastroenterology       Date:  2008-11-19       Impact factor: 22.682

6.  13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients.

Authors:  Claudia C Robayo-Torres; Antone R Opekun; Roberto Quezada-Calvillo; Xavier Villa; E O Smith; Marilyn Navarrete; Susan S Baker; Buford L Nichols
Journal:  J Pediatr Gastroenterol Nutr       Date:  2009-04       Impact factor: 2.839

7.  Human intestinal disaccharidases and hereditary disaccharide intolerance. The hydrolysis of sucrose, isomaltose, palatinose (isomaltulose), and a 1,6-alpha-oligosaccharide (isomalto-oligosaccharide) preparation.

Authors:  A DAHLQVIST; S AURICCHIO; G SEMENZA; A PRADER
Journal:  J Clin Invest       Date:  1963-04       Impact factor: 14.808
  7 in total
  4 in total

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

Authors:  Bruno P Chumpitazi; Claudia C Robayo-Torres; Cynthia M Tsai; Antone R Opekun; Susan S Baker; Buford L Nichols; Mark A Gilger
Journal:  J Pediatr Gastroenterol Nutr       Date:  2018-06       Impact factor: 2.839

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

Authors:  Su Bin Kim; Fernando H Calmet; Jose Garrido; Monica T Garcia-Buitrago; Baharak Moshiree
Journal:  Dig Dis Sci       Date:  2019-09-06       Impact factor: 3.199

3.  The clinical consequences of sucrase-isomaltase deficiency.

Authors:  Stanley A Cohen
Journal:  Mol Cell Pediatr       Date:  2016-02-08

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

Authors:  Bruno P Chumpitazi; Jeffery Lewis; Derick Cooper; Mauro D'Amato; Joel Lim; Sandeep Gupta; Adrian Miranda; Natalie Terry; Devendra Mehta; Ann Scheimann; Molly O'Gorman; Neelesh Tipnis; Yinka Davies; Joel Friedlander; Heather Smith; Jaya Punati; Julie Khlevner; Mala Setty; Carlo Di Lorenzo
Journal:  PLoS One       Date:  2020-05-20       Impact factor: 3.240
  4 in total

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