Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme
Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive human intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of...
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| Publicat a: | J Clin Invest |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
2000
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC314311/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/10903344/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI9677 |
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