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328 related items for PubMed ID: 3403721

  • 1. Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme.
    Naim HY, Roth J, Sterchi EE, Lentze M, Milla P, Schmitz J, Hauri HP.
    J Clin Invest; 1988 Aug; 82(2):667-79. PubMed ID: 3403721
    [Abstract] [Full Text] [Related]

  • 2. A study of the molecular pathology of sucrase-isomaltase deficiency. A defect in the intracellular processing of the enzyme.
    Lloyd ML, Olsen WA.
    N Engl J Med; 1987 Feb 19; 316(8):438-42. PubMed ID: 3807985
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  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 19; 136(3):883-92. PubMed ID: 19121318
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  • 5. 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 19; 106(2):281-7. PubMed ID: 10903344
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  • 6. Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency.
    Harms HK, Bertele-Harms RM, Bruer-Kleis D.
    N Engl J Med; 1987 May 21; 316(21):1306-9. PubMed ID: 3553946
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  • 10. Biosynthesis of intestinal microvillar proteins. The intracellular transport of aminopeptidase N and sucrase-isomaltase occurs at different rates pre-Golgi but at the same rate post-Golgi.
    Danielsen EM, Cowell GM.
    FEBS Lett; 1985 Oct 07; 190(1):69-72. PubMed ID: 2864287
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  • 11. The brush border membrane in hereditary sucrase-isomaltase deficiency: abnormal protein pattern and presence of immunoreactive enzyme.
    Freiburghaus AU, Dubs R, Hadorn B, Gaze H, Hauri HP, Gitzelmann R.
    Eur J Clin Invest; 1977 Oct 07; 7(5):455-9. PubMed ID: 411677
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  • 12. A phenylalanine-based folding determinant in intestinal sucrase-isomaltase that functions in the context of a quality control mechanism beyond the endoplasmic reticulum.
    Pröpsting MJ, Kanapin H, Jacob R, Naim HY.
    J Cell Sci; 2005 Jun 15; 118(Pt 12):2775-84. PubMed ID: 15944403
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  • 14. Sucrase-isomaltase and cystic fibrosis.
    Sips HJ, Claass AH, van Dongen JM, Willemsen R, Hoogeveen AT, Galjaard H, Sinaasappel M, Hauri HP, Sterchi EE.
    J Inherit Metab Dis; 1985 Jun 15; 8(4):163-8. PubMed ID: 2431220
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  • 15. Immuno-electronmicroscopical localization of a microvillus membrane disaccharidase in the human small-intestinal epithelium with monoclonal antibodies.
    Fransen JA, Ginsel LA, Hauri HP, Sterchi E, Blok J.
    Eur J Cell Biol; 1985 Jul 15; 38(1):6-15. PubMed ID: 3896809
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  • 16. [Peripheral gangrene in a congenital sucrase isomaltase deficiency (author's transl)].
    Méndez Aparicio FM.
    An Esp Pediatr; 1980 Aug 15; 13(8):720-5. PubMed ID: 7436153
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  • 17. [Congenital saccharase-isomaltase defect--diagnostic difficulties].
    Kovács JB, Lörincz M, Sashegyi J, Marton A, Simon K.
    Orv Hetil; 1989 Nov 26; 130(48):2577-82. PubMed ID: 2513545
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  • 18. Dissection of the asynchronous transport of intestinal microvillar hydrolases to the cell surface.
    Stieger B, Matter K, Baur B, Bucher K, Höchli M, Hauri HP.
    J Cell Biol; 1988 Jun 26; 106(6):1853-61. PubMed ID: 2898478
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  • 19. 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 26; 27(1):119. PubMed ID: 16329100
    [Abstract] [Full Text] [Related]

  • 20. The intestinal brush border membrane in diabetes. Studies of sucrase-isomaltase metabolism in rats with streptozotocin diabetes.
    Olsen WA, Korsmo H.
    J Clin Invest; 1977 Jul 26; 60(1):181-8. PubMed ID: 141462
    [Abstract] [Full Text] [Related]

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