Associated Papers
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.
Papazoglu GM et al.
Glycoconjugate Journal, 2021
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Cossins J et al.
Brain : a Journal of Neurology, 2013
Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I).
Vleugels W et al.
Biochimie, 2011
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis.
Thiel C et al.
The Journal of Biological Chemistry, 2003
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