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Journal Abstract Search

169 related items for PubMed ID: 33772704

  • 1. 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; 30(8):2329-2338. PubMed ID: 33772704
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 3. Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency.
    Husein DM, Rizk S, Naim HY.
    Nutrients; 2020 Dec 22; 13(1):. PubMed ID: 33375084
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  • 4. 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 22; 1863(3):817-826. PubMed ID: 28062276
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  • 5. 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
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  • 6. Sacrosidase therapy for congenital sucrase-isomaltase deficiency.
    Treem WR, McAdams L, Stanford L, Kastoff G, Justinich C, Hyams J.
    J Pediatr Gastroenterol Nutr; 1999 Feb 25; 28(2):137-42. PubMed ID: 9932843
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  • 8. 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 25; 106(2):281-7. PubMed ID: 10903344
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  • 9. Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
    Sander P, Alfalah M, Keiser M, Korponay-Szabo I, Kovács JB, Leeb T, Naim HY.
    Hum Mutat; 2006 Jan 25; 27(1):119. PubMed ID: 16329100
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  • 10. 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 25; 64(5):770-776. PubMed ID: 27749612
    [Abstract] [Full Text] [Related]

  • 11. Relationships among Dietary Intakes and Persistent Gastrointestinal Symptoms in Patients Receiving Enzyme Treatment for Genetic Sucrase-Isomaltase Deficiency.
    Boney A, Elser HE, Silver HJ.
    J Acad Nutr Diet; 2018 Mar 25; 118(3):440-447. PubMed ID: 29311037
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  • 12. 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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  • 14. 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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  • 16. Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency.
    Keiser M, Alfalah M, Pröpsting MJ, Castelletti D, Naim HY.
    J Biol Chem; 2006 May 19; 281(20):14393-9. PubMed ID: 16543230
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  • 17. Evaluation of liquid yeast-derived sucrase enzyme replacement in patients with sucrase-isomaltase deficiency.
    Treem WR, Ahsan N, Sullivan B, Rossi T, Holmes R, Fitzgerald J, Proujansky R, Hyams J.
    Gastroenterology; 1993 Oct 19; 105(4):1061-8. PubMed ID: 8405850
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  • 18. Congenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy.
    Puntis JW, Zamvar V.
    Arch Dis Child; 2015 Sep 19; 100(9):869-71. PubMed ID: 26163121
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  • 19. Naturally occurring mutations in intestinal sucrase-isomaltase provide evidence for the existence of an intracellular sorting signal in the isomaltase subunit.
    Fransen JA, Hauri HP, Ginsel LA, Naim HY.
    J Cell Biol; 1991 Oct 19; 115(1):45-57. PubMed ID: 1717481
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  • 20. Congenital sucrase-isomaltase deficiency: an under-diagnosed disease in Chinese children.
    Geng L, Li DY, Ou W, Yang Q, Fang T, Chen P, Yang M, Gong S.
    BMC Pediatr; 2014 Jan 16; 14():11. PubMed ID: 24433566
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