Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data | Orphanet Journal of Rare Diseases | Full Text

Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data | Orphanet Journal of Rare Diseases | Full Text

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

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 d...

Authors:Sarah Isabel Krieg, Ingeborg Krägeloh-Mann, Samuel Groeschel, Stefanie Beck-Wödl, Ralf A. Husain, Ludger Schöls and Christiane Kehrer

Citation:Orphanet Journal of Rare Diseases 2020 15:243

Content type:Research

 

Published on: 10 September 2020

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