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Journal Abstract Search

146 related items for PubMed ID: 23103650

  • 21. Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.
    Alfalah M, Keiser M, Leeb T, Zimmer KP, Naim HY.
    Gastroenterology; 2009 Mar; 136(3):883-92. PubMed ID: 19121318
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  • 23. 13C-breath tests for sucrose digestion in congenital sucrase isomaltase-deficient and sacrosidase-supplemented patients.
    Robayo-Torres CC, Opekun AR, Quezada-Calvillo R, Villa X, Smith EO, Navarrete M, Baker SS, Nichols BL.
    J Pediatr Gastroenterol Nutr; 2009 Apr; 48(4):412-8. PubMed ID: 19330928
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  • 24. Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.
    Marcadier JL, Boland M, Scott CR, Issa K, Wu Z, McIntyre AD, Hegele RA, Geraghty MT, Lines MA.
    CMAJ; 2015 Feb 03; 187(2):102-107. PubMed ID: 25452324
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  • 25. Inhibition of maltase-glucoamylase activity to hydrolyze α-1,4 linkages by the presence of undigested sucrose.
    Lee BH, Quezada-Calvillo R, Nichols BL, Rose DR, Hamaker BR.
    J Pediatr Gastroenterol Nutr; 2012 Nov 03; 55 Suppl 2():S45-7. PubMed ID: 23103657
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  • 26. Diarrhea caused by carbohydrate malabsorption.
    Hammer HF, Hammer J.
    Gastroenterol Clin North Am; 2012 Sep 03; 41(3):611-27. PubMed ID: 22917167
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  • 29. Congenital and putatively acquired forms of sucrase-isomaltase deficiency in infancy: effects of sacrosidase therapy.
    Lücke T, Keiser M, Illsinger S, Lentze MJ, Naim HY, Das AM.
    J Pediatr Gastroenterol Nutr; 2009 Oct 03; 49(4):485-7. PubMed ID: 19680155
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  • 31. Old meets new: identifying founder mutations in genetic disease.
    Evans JA.
    CMAJ; 2015 Feb 03; 187(2):93-94. PubMed ID: 25602001
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  • 33. 13C-Labeled-Starch Breath Test in Congenital Sucrase-isomaltase Deficiency.
    Robayo-Torres CC, Diaz-Sotomayor M, Hamaker BR, Baker SS, Chumpitazi BP, Opekun AR, Nichols BL.
    J Pediatr Gastroenterol Nutr; 2018 Jun 03; 66 Suppl 3(Suppl 3):S61-S64. PubMed ID: 29762381
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  • 34. Clinical heterogeneity in congenital sucrase-isomaltase deficiency.
    Treem WR.
    J Pediatr; 1996 Jun 03; 128(6):727-9. PubMed ID: 8648527
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  • 35. Hypomorphic SI genetic variants are associated with childhood chronic loose stools.
    Chumpitazi BP, Lewis J, Cooper D, D'Amato M, Lim J, Gupta S, Miranda A, Terry N, Mehta D, Scheimann A, O'Gorman M, Tipnis N, Davies Y, Friedlander J, Smith H, Punati J, Khlevner J, Setty M, Di Lorenzo C.
    PLoS One; 2020 Jun 03; 15(5):e0231891. PubMed ID: 32433684
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  • 36. Mosaic pattern of sucrase isomaltase deficiency in two brothers.
    Reinshagen K, Keller KM, Haase B, Leeb T, Naim HY, Zimmer KP.
    Pediatr Res; 2008 Jan 03; 63(1):79-83. PubMed ID: 18043509
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  • 37. Severe pathogenic variants of intestinal sucrase-isomaltase interact avidly with the wild type enzyme and negatively impact its function and trafficking.
    Husein DM, Rizk S, Hoter A, Wanes D, D'Amato M, Naim HY.
    Biochim Biophys Acta Mol Basis Dis; 2022 Nov 01; 1868(11):166523. PubMed ID: 35985447
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  • 38. Carbohydrate/fat ratio in the diet alters histone acetylation on the sucrase-isomaltase gene and its expression in mouse small intestine.
    Honma K, Mochizuki K, Goda T.
    Biochem Biophys Res Commun; 2007 Jun 15; 357(4):1124-9. PubMed ID: 17466947
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  • 40. [Congenital sucrase-isomaltase deficiency: a rare cause of chronic or recurrent diarrhea in children].
    Délèze G, Spahr A.
    Rev Med Suisse Romande; 1980 May 15; 100(5):441-2. PubMed ID: 7455469
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