Article
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.
Journal of inherited metabolic disease - 1 Sept 2013
Debs Rabab, Froissart Roseline, Aubourg Patrick, Papeix Caroline, Douillard Claire, Degos Bertrand, Fontaine Bertrand, Audoin Bertrand, Lacour Arnaud, Said Gérard, Vanier Marie T, Sedel Frédéric
Abstract excerpt
Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. From a series of 11 patients and 30 cases previously reported in the literature we describe the clinical, radiological, electrophysiological and genetic features of adult Krabbe disease. Patients diagnosed after the age of 16 years were included in this study. They were further divided into three groups depending on age at...
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