http://www.cnr.it/ontology/cnr/individuo/prodotto/ID18119
Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx (Articolo in rivista)
- Type
- Label
- Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx (Articolo in rivista) (literal)
- Anno
- 2008-01-01T00:00:00+01:00 (literal)
- Alternative label
N.C.Nsibu, J.Jaeken, H.Carchon, M.Mampunza, L.Sturiale, D.Garozzo, M.N.L.Mashako, M.P.Tshibassu (2008)
Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx
in European journal of paediatric neurology
(literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
- N.C.Nsibu, J.Jaeken, H.Carchon, M.Mampunza, L.Sturiale, D.Garozzo, M.N.L.Mashako, M.P.Tshibassu (literal)
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- Rivista
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- ISI Web of Science (WOS) (literal)
- Titolo
- Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx (literal)
- 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 Nglycan processing. The basic defect in this patient with CDG-IIx has not yet been identified. (literal)
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