Galactosemia: Towards Pharmacological Chaperones

Galactosemia is a rare inherited metabolic disease resulting from mutations in the four genes which encode enzymes involved in the metabolism of galactose. The current therapy, the removal of galactose from the diet, is inadequate. Consequently, many patients suffer lifelong physical and cognitive d...

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Bibliographic Details
Main Authors: Samantha Banford, Thomas J. McCorvie, Angel L. Pey, David J. Timson
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Journal of Personalized Medicine
Subjects:
Online Access:https://www.mdpi.com/2075-4426/11/2/106