Ontology highlight
ABSTRACT:
SUBMITTER: Freeze HH
PROVIDER: S-EPMC3625645 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Freeze Hudson H HH Eklund Erik A EA Ng Bobby G BG Patterson Marc C MC
The Lancet. Neurology 20120501 5
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 dystrophies), strokes and stroke-like episodes, epileptic seizures, developmental delay, and d ...[more]