Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Affiliation

Pediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium. [Email]

Abstract

PMM2-CDG is the most common congenital disorder of glycosylation (CDG), which presents with either a neurologic or multisystem phenotype. Little is known about the longitudinal evolution.

Keywords

CDG severity scale,PMM2-CDG,coagulation,liver function test,long-term follow-up,

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