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Globoid Cell Leukodystrophy (Krabbe Disease): An Update

Globoid cell leukodystrophy or Krabbe is a disease that affects children as well as adults who have mutations in the gene encoding the enzyme galactosylceramidase/galctocerebrosidase (GALC), resulting in the deposition of the toxic lipid D-galactosyl-beta1-1’ sphingosine (GalSph or psychosine). Seve...

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Detalles Bibliográficos
Autor principal: Maghazachi, Azzam A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10625317/
https://www.ncbi.nlm.nih.gov/pubmed/37928748
http://dx.doi.org/10.2147/ITT.S424622