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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...

詳細記述

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書誌詳細
主要な著者: Jacob, Ralf, Zimmer, Klaus-Peter, Schmitz, Jacques, Naim, Hassan Y.
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Clinical Investigation 2000
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC314311/
https://ncbi.nlm.nih.gov/pubmed/10903344
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