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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| Published in: | J Clin Invest |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
American Society for Clinical Investigation
1988
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| Subjects: | |
| Online Access: | 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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