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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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Detalles Bibliográficos
Autores principales: Banford, Samantha, McCorvie, Thomas J., Pey, Angel L., Timson, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7914515/
https://www.ncbi.nlm.nih.gov/pubmed/33562227
http://dx.doi.org/10.3390/jpm11020106