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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Hauptverfasser: Naim, H Y, Roth, J, Sterchi, E E, Lentze, M, Milla, P, Schmitz, J, Hauri, H P
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1988
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC303562/
https://ncbi.nlm.nih.gov/pubmed/3403721
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