Patient-reported outcomes and quality of life in PMM2-CDG
AN Ligezka, A Mohamed, C Pascoal… - Molecular genetics and …, 2022 - Elsevier
Patient-reported outcomes (PROs) measure important aspects of disease burden, however
they have received limited attention in the care of patients with Congenital Disorders of
Glycosylation (CDG). We evaluated the PROs and correlation between clinical disease
severity scoring and reported quality of life (QoL) in a PMM2-CDG patient cohort. Twenty-five
patients with diagnosis of PMM2-CDG were enrolled as part of the Frontiers in Congenital
Disorders of Glycosylation Consortium (FCDGC) natural history study. Patient-Reported …
they have received limited attention in the care of patients with Congenital Disorders of
Glycosylation (CDG). We evaluated the PROs and correlation between clinical disease
severity scoring and reported quality of life (QoL) in a PMM2-CDG patient cohort. Twenty-five
patients with diagnosis of PMM2-CDG were enrolled as part of the Frontiers in Congenital
Disorders of Glycosylation Consortium (FCDGC) natural history study. Patient-Reported …
