Articles with "congenital glucose" 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
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Nutrition management of congenital glucose–galactose malabsorption

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Published in 2019 at "Medicine"

DOI: 10.1097/md.0000000000016828

Abstract: Abstract Rationale: Congenital glucose–galactose malabsorption (CGGM) is a rare, autosomal recessive, hereditary disease that usuallypresents in newborns. CGGM manifests as severe diarrhea, hyperosmolar dehydration, and malnutrition. It does not respond to routine treatment and often… read more here.

Keywords: glucose galactose; galactose malabsorption; glucose; nutrition management ... See more keywords