Results 31 to 40 of about 233 (96)

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? [PDF]

Mol Genet Metab, 2021
Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K.   +17 more
europepmc   +1 more source

Phosphoprotein with Phosphoglycerate Mutase Activity from the Archaeon Sulfolobus solfataricus [PDF]

, 2003
M. Ben Potters, Barbara T. Solow, Kenneth M. Bischoff, David E. Graham, Brian H. Lower, Richard Helm, Peter J. Kennelly   +6 more
core   +1 more source

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial. [PDF]

Orphanet J Rare Dis, 2021
Witters P, Andersson H, Jaeken J, Tseng L, van Karnebeek CDM, Lefeber DJ, Cassiman D, Morava E.   +7 more
europepmc   +1 more source

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD). [PDF]

Mol Genet Genomic Med, 2021
Islam S, Tekman M, Flanagan SE, Guay-Woodford L, Hussain K, Hussain K, Ellard S, Kleta R, Bockenhauer D, Stanescu H, Iancu D.   +10 more
europepmc   +1 more source

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study. [PDF]

Sci Rep, 2023
Epifani F, Pujol Serra SM, Llorens M, Balcells S, Nolasco G, Bolasell M, Aguilera-Albesa S, Cancho Candela R, Cuevas Cervera JL, García Sánchez V, Garcia O, Miranda-Herrero MC, Moreno-Lozano PJ, Robles B, Roldán Aparicio S, Velázquez Fragua R, Serrano M.   +16 more
europepmc   +1 more source

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation. [PDF]

Mol Genet Metab, 2023
De Graef D, Ligezka AN, Rezents J, Mazza GL, Preston G, Schwartz K, Krzysciak W, Lam C, Edmondson AC, Johnsen C, Kozicz T, Morava E.   +11 more
europepmc   +1 more source

Genotype-Phenotype Correlations in PMM2-CDG. [PDF]

Genes (Basel), 2021
Vaes L, Rymen D, Cassiman D, Ligezka A, Vanhoutvin N, Quelhas D, Morava E, Witters P.   +7 more
europepmc   +1 more source

A liposomal carbohydrate vaccine, adjuvanted with an NKT cell agonist, induces rapid and enhanced immune responses and antibody class switching. [PDF]

J Nanobiotechnology, 2023
Jia JX, Peng SL, Kalisa NY, Chao Q, Zhou Z, Gao XD, Wang N.   +6 more
europepmc   +1 more source

Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study. [PDF]

Orphanet J Rare Dis, 2021
Witters P, Edmondson AC, Lam C, Johnsen C, Patterson MC, Raymond KM, He M, Freeze HH, Morava E.   +8 more
europepmc   +1 more source

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG. [PDF]

Genes (Basel), 2023
Ligezka AN, Budhraja R, Nishiyama Y, Fiesel FC, Preston G, Edmondson A, Ranatunga W, Van Hove JLK, Watzlawik JO, Springer W, Pandey A, Morava E, Kozicz T.   +12 more
europepmc   +1 more source