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