Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data

BACKGROUND: Krabbe disease or globoid cell leukodystrophy is a severe neurodegenerative disorder caused by a defect in the GALC gene leading to a deficiency of the enzyme ß-galactocerebrosidase. The aim of this work was to describe the natural disease course covering the whole spectrum of the diseas...

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Detalles Bibliográficos
Autores principales: Krieg, Sarah Isabel, Krägeloh-Mann, Ingeborg, Groeschel, Samuel, Beck-Wödl, Stefanie, Husain, Ralf A., Schöls, Ludger, Kehrer, Christiane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488349/
https://www.ncbi.nlm.nih.gov/pubmed/32912261
http://dx.doi.org/10.1186/s13023-020-01489-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488349/
https://www.ncbi.nlm.nih.gov/pubmed/32912261
http://dx.doi.org/10.1186/s13023-020-01489-3

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