1.
Eur J Paediatr Neurol
; 12(3): 257-61, 2008 May.
Article
in English
| MEDLINE
| ID: mdl-17884642
ABSTRACT
We describe an infant girl with psychomotor retardation, growth retardation, mild facial dysmorphy, evidence of liver involvement and a type 2 pattern of serum sialotransferrins. Serum transferrin glycan analysis with MALDI-TOF showed an extremely altered N-glycan pattern with a large number of truncated asialoglycans pointing to a severely defective N-glycan processing. The basic defect in this patient with CDG-IIx has not yet been identified.