Abstract
Congenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of the Komrower lecture, entitled ‘Congenital disorders of glycosylation CDG): It’s all in it!’. This paper presents an overview of recently discovered CDG and CDG phenotypes, of a diagnostic approach, of (the lack of) treatment, of CDG genetics, of a novel CDG nomenclature and classification, and of some future directions in the CDG field.
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Communicated by: Eva Morava
Competing interests: None declared
Presented at the Annual Symposium of the SSIEM, Istanbul, Turkey, 31 August –3 September 2010
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Jaeken, J. Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!. J Inherit Metab Dis 34, 853–858 (2011). https://doi.org/10.1007/s10545-011-9299-3
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DOI: https://doi.org/10.1007/s10545-011-9299-3