Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx
| Autor: | M Mampunza, Domenico Garozzo, Jaak Jaeken, N C Nsibu, Hubert Carchon, M P Tshibassu, M N L Mashako, L Sturiale |
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| Rok vydání: | 2008 |
| Předmět: |
MALDI-TOF
medicine.medical_specialty Glycosylation congenital disorder of glycosylation chemistry.chemical_compound Congolese Polysaccharides Internal medicine medicine Humans CDG-II Glycan Analysis chemistry.chemical_classification Apolipoprotein C-III Growth retardation Psychomotor retardation Isoelectric focusing business.industry Transferrin Infant General Medicine medicine.disease carbohydrates (lipids) Endocrinology chemistry Biochemistry Spectrometry Mass Matrix-Assisted Laser Desorption-Ionization N-glycan Pediatrics Perinatology and Child Health Democratic Republic of the Congo Female Neurology (clinical) Isoelectric Focusing medicine.symptom business Congenital disorder of glycosylation Carbohydrate Metabolism Inborn Errors |
| Zdroj: | European journal of paediatric neurology 12 (2008): 257–261. info:cnr-pdr/source/autori:N.C.Nsibu, J.Jaeken, H.Carchon, M.Mampunza, L.Sturiale, D.Garozzo, M.N.L.Mashako, M.P.Tshibassu/titolo:Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx/doi:/rivista:European journal of paediatric neurology/anno:2008/pagina_da:257/pagina_a:261/intervallo_pagine:257–261/volume:12 |
| ISSN: | 1090-3798 |
| DOI: | 10.1016/j.ejpn.2007.07.012 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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