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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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Dades bibliogràfiques
Publicat a:J Clin Invest
Autors principals: Jacob, Ralf, Zimmer, Klaus-Peter, Schmitz, Jacques, Naim, Hassan Y.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2000
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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