3 documents found, page 1 of 1
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG)
Granjo, Pedro; Pascoal, Carlota; Gallego, Diana; Francisco, Rita; Jaeken, Jaak; Moors, Tristen; Edmondson, Andrew C.; Kantautas, Kristin A.We would like to express our gratitude to the all CDG patient organizations and professionals who actively partnered with us in conducting this community-centered research led by the CDG & Allies \u2013 Patient Advocacy and International Research Network. We would also like to acknowledge the support of MetaBERN and FCDGC, as well as other CDG patient organizations worldwide, namely CDG Care, CDG Mexico, and Si...
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG)
Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, SarahP. W. is supported by the Clinical Research Fund, University Hospitals Leuven, Leuven, Belgium. This work is partially funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS), the National Center for Advancing Translational Sciences (NCATS), and the Rare Disorders Consortium Research Network (RDCRN) (...
International clinical guidelines for the management of phosphomannomutase 2-co...
Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; Cassiman, David; Cechova, AnnaWe would like to thank the Metabolic ERN (MetabERN) for their support to our study.; Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limite...