Congenital sucrase–isomaltase deficiency: identification of a common Inuit founder mutation

BACKGROUND: Congenital sucrase–isomaltase deficiency is a rare hereditary cause of chronic diarrhea in children. People with this condition lack the intestinal brush-border enzyme required for digestion of di- and oligosaccharides, including sucrose and isomaltose, leading to malabsorption. Although...

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Foilsithe in:CMAJ
Main Authors: Marcadier, Julien L., Boland, Margaret, Scott, C. Ronald, Issa, Kheirie, Wu, Zaining, McIntyre, Adam D., Hegele, Robert A., Geraghty, Michael T., Lines, Matthew A.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 8872147 Canada Inc. 2015
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Research
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4312148/
https://ncbi.nlm.nih.gov/pubmed/25452324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1503/cmaj.140657
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