Articles with "slc5a1 gene" as a keyword



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A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

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Published in 2020 at "Journal of pediatric genetics"

DOI: 10.1055/s-0040-1719161

Abstract: Congenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here… read more here.

Keywords: congenital glucose; slc5a1 gene; glucose galactose; mutation ... See more keywords