3 documents found, page 1 of 1
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) (...
An electronic questionnaire for liver assessment in congenital disorders of gly...
Marques-da-Silva, Dorinda; Francisco, Rita; dos Reis Ferreira, Vanessa; Forbat, Liz; Lagoa, Ricardo; Videira, Paula A.; Witters, Peter; Jaeken, JaakDorinda Marques-da-Silva acknowledges the support from the Rare Disease Foundation’s microgrant and ‘Liliana Scientific Scholarship’; Rita Francisco acknowledges Fundação para a Ciência e Tecnologia for the grant SFRH/BD/124326/2016 awarded to her.; Congenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono-to multi-organ/multisystem involvement. L...
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...