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

Abstract 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 th...

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Bibliographic Details
Main Authors: Sarah Isabel Krieg, Ingeborg Krägeloh-Mann, Samuel Groeschel, Stefanie Beck-Wödl, Ralf A. Husain, Ludger Schöls, Christiane Kehrer
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Krabbe disease
Globoid cell leukodystrophy
GALC deficiency
Natural disease course
MRI pattern
Pattern recognition
Online Access:http://link.springer.com/article/10.1186/s13023-020-01489-3

Internet

http://link.springer.com/article/10.1186/s13023-020-01489-3

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