Neurodegenerative Disorder Risk in Krabbe Disease Carriers

Krabbe disease (KD) is a rare autosomal recessive disorder caused by mutations in the galactocerebrosidase gene (GALC). Defective GALC causes aberrant metabolism of galactolipids present almost exclusively in myelin, with consequent demyelinization and neurodegeneration of the central and peripheral...

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Detalles Bibliográficos
Autores principales: Vantaggiato, Lorenza, Shaba, Enxhi, Carleo, Alfonso, Bezzini, Daiana, Pannuzzo, Giovanna, Luddi, Alice, Piomboni, Paola, Bini, Luca, Bianchi, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654610/
https://www.ncbi.nlm.nih.gov/pubmed/36362324
http://dx.doi.org/10.3390/ijms232113537

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654610/
https://www.ncbi.nlm.nih.gov/pubmed/36362324
http://dx.doi.org/10.3390/ijms232113537

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