A new case of CDG‐x with stereotyped dystonic hand movements and optic atrophy
- 1 May 2002
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 25 (2), 126-130
- https://doi.org/10.1023/a:1015628810892
Abstract
We report the clinical findings and the diagnostic work-up of a 17-month-old girl with CDG-x. Predominant clinical signs were, besides psychomotor retardation and truncal hypotonia, stereotyped...Keywords
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