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Title: Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx
Authors: Nsibu, N C ×
Jaeken, Jaak
Carchon, H
Mampunza, M
Sturiale, L
Garozzo, D
Mashako, M N L
Tshibassu, M P #
Issue Date: May-2008
Publisher: Saunders
Series Title: European Journal of Paediatric Neurology vol:12 issue:3 pages:257-61
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.
URI: 
ISSN: 1090-3798
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Brain & Metabolism Section (-)
Section Child - Miscellaneous (-)
× corresponding author
# (joint) last author

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