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Genotype and phenotype classification of 29 patients affected by Krabbe disease

Krabbe disease is a rare neurodegenerative lysosomal storage disorder caused by mutations in the galactocerebrosidase gene, GALC. Krabbe disease usually affects infants, but has also been reported in older children and adults. Different phenotypes are described based on age at onset. The gene encodi...

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Detalles Bibliográficos
Autores principales: Madsen, Anna M. H., Wibrand, Flemming, Lund, Allan M., Ek, Jakob, Dunø, Morten, Østergaard, Elsebet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498822/
https://www.ncbi.nlm.nih.gov/pubmed/31240153
http://dx.doi.org/10.1002/jmd2.12007