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Defeitos congénitos de glicosilação (cdg) em portugal: a ponta do iceberg
Quelhas, Dulce; Matthijs, G; Jaeken, J; Sousa, D; Laranjeira, F; Lacerda, L
MAN1B1 Deficiency: An Unexpected CDG-II
Rymen, D.; Peanne, R.; Millón, M.; Race, V.; Sturiale, L.; Garozzo, D.; Mills, P.; Clayton, P.; Asteggiano, C.; Quelhas, D.; Cansu, A.; Martins, E.Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene in an unsolved CDG-II patient. Subsequently, 6 additional cases with MAN1B1-CDG were found. All individuals presented slight facial dysmorphism, psychomotor retardation and truncal obesity. Gene...
Stability studies of a recombinant cutinase immobilized to dextran and derivati...
Gonçalves, A. M.; Schacht, E.; Matthijs, G.; Aires Barros, M. R.; Cabral, J. M. S.; Gil, M. H.Recombinant cutinase from Fusarium solani pisi was covalently attached to dextran and two derivatized silica supports, Biosil-NH2 and Biosil-Dextran-NH2. Kinetic parameters were determined for all three systems as well as for soluble cutinase. Long-term stability in aqueous media was studied; dextran may have a stabilizing role not only due to the covalent links involved but also in the same way as other polyhy...
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