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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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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| 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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