Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
J Jaeken - Journal of inherited metabolic disease, 2011 - Springer
J Jaeken
Journal of inherited metabolic disease, 2011•SpringerCongenital 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.
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.
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.
Springer