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.
Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx
2008
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.File in questo prodotto:
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