The challenge of CDG diagnosis
R Francisco, D Marques-da-Silva, S Brasil… - Molecular genetics and …, 2019 - Elsevier
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases
that currently includes some 130 different types. CDG diagnosis is a challenge, not only
because of this large number but also because of the huge clinical heterogeneity even
within a number of CDG. In addition, the classical screening test, serum transferrin
isoelectrofocusing, is only positive in about 60% of CDG, and can even become negative in
some CDG particularly in PMM2-CDG, the most frequent N-glycosylation defect. In order to …
that currently includes some 130 different types. CDG diagnosis is a challenge, not only
because of this large number but also because of the huge clinical heterogeneity even
within a number of CDG. In addition, the classical screening test, serum transferrin
isoelectrofocusing, is only positive in about 60% of CDG, and can even become negative in
some CDG particularly in PMM2-CDG, the most frequent N-glycosylation defect. In order to …
