Articles with "galt gene" as a keyword



Photo from wikipedia

Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified

Sign Up to like & get
recommendations!
Published in 2020 at "Medicina"

DOI: 10.3390/medicina56110559

Abstract: Galactosemia is a rare autosomal recessive genetic disorder that causes impaired metabolism of the carbohydrate galactose. This leads to severe liver and kidney insufficiency, central nervous system damage and long-term complications in newborns. We present… read more here.

Keywords: galactosemia; classical galactosemia; galt gene; galt ... See more keywords