Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data
Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data
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London: BioMed Central Ltd
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Language
English
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London: BioMed Central Ltd
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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 disease. Natural history data were collected with a standardized qu...
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Full title
Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data
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TN_cdi_doaj_primary_oai_doaj_org_article_e189111cbc8140d9aa1744a847b61cce
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e189111cbc8140d9aa1744a847b61cce
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-020-01489-3
