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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Publié dans:	J Clin Invest
Auteurs principaux:	Jacob, Ralf, Zimmer, Klaus-Peter, Schmitz, Jacques, Naim, Hassan Y.
Format:	Artigo
Langue:	Inglês
Publié:	American Society for Clinical Investigation 2000
Sujets:	Article
Accès en ligne:	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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