Congenital disorders of glycosylation. part ii. defects of protein o-glycosylation

HIGHLIGHTS

• who: Bogdan Cylwik et al. from the Department of Biochemical Diagnostics, Medical University of Bialystok, Biau0142ystok, Poland have published the research: Congenital disorders of glycosylation. part ii. defects of protein o-glycosylation, in the Journal: (JOURNAL) of 25/01/2013
• what: The first part of this paper presents an overview of 17 CDG limited to the group of protein N-glycosylation disorders with a novel nomenclature, classification, location and reasons for defects, clinical phenotype, and diagnostic approach.
• future: For further confirmation of the diagnosis genetic studies are required (Beltran-Valero de Bernabe D . . .
  

   

  

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