Advances in the Diagnosis and Treatment of Krabbe Disease

Krabbe disease is an autosomal recessive leukodystrophy caused by pathogenic variants in the galactocerebrosidase (GALC) gene. GALC activity is needed for the lysosomal hydrolysis of galactosylceramide, an important component of myelin. While most patients are infants, older patients are also diagno...

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Detalles Bibliográficos
Autores principales: Wenger, David A, Luzi, Paola, Rafi, Mohammad A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396024/
https://www.ncbi.nlm.nih.gov/pubmed/34449528
http://dx.doi.org/10.3390/ijns7030057

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8396024/
https://www.ncbi.nlm.nih.gov/pubmed/34449528
http://dx.doi.org/10.3390/ijns7030057

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