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

10 Sept 2020

Abstract excerpt

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 disease. METHODS: Natural history data were collected with a standardized questionnaire, supplemented by medical record...

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PMID: 32912261
DOI: 10.1186/s13023-020-01489-3

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