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Journal Abstract Search

146 related items for PubMed ID: 23103650

  • 1. Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.
    Uhrich S, Wu Z, Huang JY, Scott CR.
    J Pediatr Gastroenterol Nutr; 2012 Nov; 55 Suppl 2():S34-5. PubMed ID: 23103650
    [No Abstract] [Full Text] [Related]

  • 2. Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex.
    Naim HY, Heine M, Zimmer KP.
    J Pediatr Gastroenterol Nutr; 2012 Nov; 55 Suppl 2():S13-20. PubMed ID: 23103643
    [No Abstract] [Full Text] [Related]

  • 3. Congenital sucrase-isomaltase deficiency: summary of an evaluation in one family.
    Chumpitazi BP, Robayo-Torres CC, Opekun AR, Nichols BL, Naim HY.
    J Pediatr Gastroenterol Nutr; 2012 Nov; 55 Suppl 2(0 2):S36. PubMed ID: 23103651
    [No Abstract] [Full Text] [Related]

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  • 5. Clinical aspects and treatment of congenital sucrase-isomaltase deficiency.
    Treem WR.
    J Pediatr Gastroenterol Nutr; 2012 Nov; 55 Suppl 2():S7-13. PubMed ID: 23103658
    [No Abstract] [Full Text] [Related]

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  • 7. Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.
    Gericke B, Amiri M, Scott CR, Naim HY.
    Biochim Biophys Acta Mol Basis Dis; 2017 Mar; 1863(3):817-826. PubMed ID: 28062276
    [Abstract] [Full Text] [Related]

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  • 9. Onset of sucrase-isomaltase deficiency in late adulthood.
    Muldoon C, Maguire P, Gleeson F.
    Am J Gastroenterol; 1999 Aug; 94(8):2298-9. PubMed ID: 10445568
    [Abstract] [Full Text] [Related]

  • 10. Poor starch digestion in children with CSID and recurrent abdominal pain.
    Robayo-Torres CC, Baker SS, Chumpitazi BP, Lecea CE, Nichols BL, Opekun AR.
    J Pediatr Gastroenterol Nutr; 2012 Nov; 55 Suppl 2():S32-4. PubMed ID: 23103649
    [No Abstract] [Full Text] [Related]

  • 11. Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.
    Jacob R, Zimmer KP, Schmitz J, Naim HY.
    J Clin Invest; 2000 Jul; 106(2):281-7. PubMed ID: 10903344
    [Abstract] [Full Text] [Related]

  • 12. Phenotypic observations by the CSID Dietary and Medical Support Group.
    Slawson MH.
    J Pediatr Gastroenterol Nutr; 2012 Nov; 55 Suppl 2():S30-2. PubMed ID: 23103648
    [No Abstract] [Full Text] [Related]

  • 13. Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.
    Haberman Y, Di Segni A, Loberman-Nachum N, Barel O, Kunik V, Eyal E, Kol N, Hout-Siloni G, Kochavi B, Avivi C, Schvimer M, Rechavi G, Anikster Y, Barshack I, Weiss B.
    J Pediatr Gastroenterol Nutr; 2017 May; 64(5):770-776. PubMed ID: 27749612
    [Abstract] [Full Text] [Related]

  • 14. Congenital sucrase-isomaltase deficiency.
    Treem WR.
    J Pediatr Gastroenterol Nutr; 1995 Jul; 21(1):1-14. PubMed ID: 8576798
    [No Abstract] [Full Text] [Related]

  • 15. The glucose-regulated protein GRP94 interacts avidly in the endoplasmic reticulum with sucrase-isomaltase isoforms that are associated with congenital sucrase-isomaltase deficiency.
    Hoter A, Naim HY.
    Int J Biol Macromol; 2021 Sep 01; 186():237-243. PubMed ID: 34242650
    [Abstract] [Full Text] [Related]

  • 16. Direct starch digestion by sucrase-isomaltase and maltase-glucoamylase.
    Lin AH, Hamaker BR, Nichols BL.
    J Pediatr Gastroenterol Nutr; 2012 Nov 01; 55 Suppl 2():S43-5. PubMed ID: 23103656
    [No Abstract] [Full Text] [Related]

  • 17. Starch digestion and patients with congenital sucrase-isomaltase deficiency.
    Hamaker BR, Lee BH, Quezada-Calvillo R.
    J Pediatr Gastroenterol Nutr; 2012 Nov 01; 55 Suppl 2():S24-8. PubMed ID: 23103646
    [No Abstract] [Full Text] [Related]

  • 18. The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency.
    Smith H, Romero B, Flood E, Boney A.
    Qual Life Res; 2021 Aug 01; 30(8):2329-2338. PubMed ID: 33772704
    [Abstract] [Full Text] [Related]

  • 19. Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.
    Husein DM, Wanes D, Marten LM, Zimmer KP, Naim HY.
    Nutrients; 2019 Sep 25; 11(10):. PubMed ID: 31557950
    [Abstract] [Full Text] [Related]

  • 20. Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.
    Henström M, Diekmann L, Bonfiglio F, Hadizadeh F, Kuech EM, von Köckritz-Blickwede M, Thingholm LB, Zheng T, Assadi G, Dierks C, Heine M, Philipp U, Distl O, Money ME, Belheouane M, Heinsen FA, Rafter J, Nardone G, Cuomo R, Usai-Satta P, Galeazzi F, Neri M, Walter S, Simrén M, Karling P, Ohlsson B, Schmidt PT, Lindberg G, Dlugosz A, Agreus L, Andreasson A, Mayer E, Baines JF, Engstrand L, Portincasa P, Bellini M, Stanghellini V, Barbara G, Chang L, Camilleri M, Franke A, Naim HY, D'Amato M.
    Gut; 2018 Feb 25; 67(2):263-270. PubMed ID: 27872184
    [Abstract] [Full Text] [Related]

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