Article
Neurology of inherited glycosylation disorders.
The Lancet. Neurology - 1 May 2012
Freeze Hudson H, Eklund Erik A, Ng Bobby G, Patterson Marc C
Abstract excerpt
Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system. Typical manifestations include structural abnormalities (eg, rapidly progressive cerebellar atrophy), myopathies (including congenital muscular dystrophies and limb-girdle...
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