Article
The Importance of Neonatal Screening for Galactosemia.
Nutrients - 20 Dec 2022
Badiu Tișa Ioana, Achim Anca Cristina, Cozma-Petruț Anamaria
Abstract excerpt
Galactosemia is an inborn metabolic disorder caused by a deficient activity in one of the enzymes involved in the metabolism of galactose. The first description of galactosemia in newborns dates from 1908, ever since complex research has been performed on cell and animal models to gain more insights into the molecular and clinical bases of this challenging disease. In galactosemia, the newborn appears to be born...
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