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EnglishWe 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. (C) 2007 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
| Titolo: | Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx | |
| Autori interni: | ||
| Data di pubblicazione: | 2008 | |
| Rivista: | ||
| 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. (C) 2007 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. | |
| Handle: | http://hdl.handle.net/20.500.11769/242581 | |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
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