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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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Krieg, Sarah Isabel, Krägeloh-Mann, Ingeborg, Groeschel, Samuel, Beck-Wödl, Stefanie, Husain, Ralf A., Schöls, Ludger, Kehrer, Christiane
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7488349/
https://ncbi.nlm.nih.gov/pubmed/32912261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01489-3
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