Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme.

Eight cases of congenital sucrase-isomaltase deficiency were studied at the subcellular and protein level with monoclonal antibodies against sucrase-isomaltase. At least three phenotypes were revealed: one in which sucrase-isomaltase protein accumulated intracellularly probably in the endoplasmic re...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	Naim, H Y, Roth, J, Sterchi, E E, Lentze, M, Milla, P, Schmitz, J, Hauri, H P
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1988
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC303562/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3403721/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113646
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