2018
DOI: 10.33140/an.01.01.01
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Classic Galactosemia Neurological Complications: An Overview

Abstract: Classic galactosemia is an autosomic recessive disorder that leads to increasegalactose 1 phosphate and galactitol intracellular levels; with clinical manifestations that arise from the ingestion of galactose from the diet but can be reverted when restricted. Yet about 90% of the patients develop neurological complications. Because of that we evaluate the impact of the diet on the generation of such complications, like the strict galactose restriction and the glycosilation impairment, galactosemia and social i… Show more

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