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P313 Early onset clinical and neuroradiological signs in 2 siblings with mutations in the Sacs gene

✍ Scribed by L. De Meirleir; J. Baets; E. Schmedding; B. Desprechins; T. De Coninck; P. De Jonghe


Book ID
114360181
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
40 KB
Volume
13
Category
Article
ISSN
1090-3798

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## Abstract Krabbe's disease or globoid cell leukodystrophy is a rare demyelinating disorder of the central and peripheral nervous systems, the diagnosis of which is based on clinical findings and the determination of low to absent functional activiry of athe enzyme β‐galactocerebrosidase. We repor