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PP3.6 – 2106 Early onset ataxia – an international database

✍ Scribed by Steinlin, M; Baxter, P; Boltshauser, E; Brankovic, V; Catsman-Berrevoets, CE; Bertini, E; Kennedy, C; Mancini, F; Nemeth, A; Schöls, L; Sival, D; Synofzik, M


Book ID
123434492
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
63 KB
Volume
17
Category
Article
ISSN
1090-3798

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## Abstract Congenital disorders of glycosylation (CDG) are a recently described, underrecognized group of syndromes characterized biochemically by abnormal glycosylation of serum and cellular glycoproteins. We report a previously undiagnosed adult male who presented with early‐onset cerebellar ata