| 1 | CSID, SI
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| Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
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| Sander P, Alfalah M, Keiser M, Korponay-Szabo I, Kovacs JB, Leeb T, Naim HY.
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| Hum Mutat 27(1):119. 2006
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| 2 | CSID, SI
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| Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum.
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| Ritz V, Alfalah M, Zimmer KP, Schmitz J, Jacob R, Naim HY.
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| Gastroenterology 125(6):1678-85. 2003
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| 3 | CSID, SI
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| Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.
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| Ouwendijk J, Moolenaar CE, Peters WJ, Hollenberg CP, Ginsel LA, Fransen JA, Naim HY.
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| J Clin Invest 97(3):633-41. 1996
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