| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3055057 | European Journal of Paediatric Neurology | 2008 | 5 Pages |
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.
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Authors
N.C. Nsibu, J. Jaeken, H. Carchon, M. Mampunza, L. Sturiale, D. Garozzo, M.N.L. Mashako, M.P. Tshibassu,