The challenge of CDG diagnosis
Francisco, R., Marques-da-Silva, D., Brasil, S., Pascoal, C., dos Reis Ferreira, V., Morava, E., Jaeken, J.
Published in Molecular genetics and metabolism (01.01.2019)
Published in Molecular genetics and metabolism (01.01.2019)
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Journal Article
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature
Marques-da-Silva, D., dos Reis Ferreira, V., Monticelli, M., Janeiro, P., Videira, P. A., Witters, P., Jaeken, J., Cassiman, D.
Published in Journal of Inherited Metabolic Disease (01.03.2017)
Published in Journal of Inherited Metabolic Disease (01.03.2017)
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Journal Article
Book Review
Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature
Marques-da-Silva, D., Francisco, R., Webster, D., dos Reis Ferreira, V., Jaeken, J., Pulinilkunnil, T.
Published in Journal of inherited metabolic disease (01.09.2017)
Published in Journal of inherited metabolic disease (01.09.2017)
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Journal Article
Shared challenges and opportunities: Uncovering common ground in patient participation across different healthcare settings and patient groups. A qualitative meta-summary on patient-reported barriers and facilitators to participation in shared decision-making
Mertens, L., Kasmi, T., Bekkering, GE, Hannes, K., Vermandere, M., Delvaux, N., Van Bostraeten, P., Jaeken, J., van der Weijden, T., Rademakers, J., Aertgeerts, B.
Published in Patient education and counseling (01.01.2025)
Published in Patient education and counseling (01.01.2025)
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Journal Article
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals
Pascoal, C, Ferreira, I, Teixeira, C, Almeida, E, Slade, A, Brasil, S, Francisco, R, Ligezka, A.N, Morava, E, Plotkin, H, Jaeken, J, Videira, P.A, Barros, L, dos Reis Ferreira, V
Published in Orphanet journal of rare diseases (29.10.2022)
Published in Orphanet journal of rare diseases (29.10.2022)
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Journal Article
MALDI‐MS profiling of serum O‐glycosylation and N‐glycosylation in COG5‐CDG
Palmigiano, A., Bua, R. O., Barone, R., Rymen, D., Régal, L., Deconinck, N., Dionisi‐Vici, C., Fung, C.‐W., Garozzo, D., Jaeken, J., Sturiale, L.
Published in Journal of mass spectrometry. (01.06.2017)
Published in Journal of mass spectrometry. (01.06.2017)
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Journal Article
Assessing the effects of PMM2 variants on protein stability
Quelhas, D., Carneiro, J., Lopes-Marques, M., Jaeken, J., Martins, E., Rocha, J.F., Teixeira Carla, S.S., Ferreira, C.R., Sousa, S.F., Azevedo, L.
Published in Molecular genetics and metabolism (01.12.2021)
Published in Molecular genetics and metabolism (01.12.2021)
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Journal Article
Childhood Pompe disease: clinical spectrum and genotype in 31 patients
van Capelle, C I, van der Meijden, J C, van den Hout, J M P, Jaeken, J, Baethmann, M, Voit, T, Kroos, M A, Derks, T G J, Rubio-Gozalbo, M E, Willemsen, M A, Lachmann, R H, Mengel, E, Michelakakis, H, de Jongste, J C, Reuser, A J J, van der Ploeg, A T
Published in Orphanet journal of rare diseases (18.05.2016)
Published in Orphanet journal of rare diseases (18.05.2016)
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Journal Article
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect
Morena‐Barrio, M. E., Martínez‐Martínez, I., Cos, C., Wypasek, E., Roldán, V., Undas, A., Scherpenzeel, M., Lefeber, D. J., Toderici, M., Sevivas, T., España, F., Jaeken, J., Corral, J., Vicente, V.
Published in Journal of thrombosis and haemostasis (01.08.2016)
Published in Journal of thrombosis and haemostasis (01.08.2016)
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Journal Article
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data
Nambot, S., Gavrilov, D., Thevenon, J., Bruel, A.L., Bainbridge, M., Rio, M., Goizet, C., Rötig, A., Jaeken, J., Niu, N., Xia, F., Vital, A., Houcinat, N., Mochel, F., Kuentz, P., Lehalle, D., Duffourd, Y., Rivière, J.B., Thauvin‐Robinet, C., Beaudet, A.L., Faivre, L.
Published in Clinical genetics (01.08.2017)
Published in Clinical genetics (01.08.2017)
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Journal Article
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation
Barone, Rita, Carrozzi, M., Parini, R., Battini, R., Martinelli, D., Elia, M., Spada, M., Lilliu, F., Ciana, G., Burlina, A., Leuzzi, V., Leoni, M., Sturiale, L., Matthijs, G., Jaeken, J., Di Rocco, M., Garozzo, D., Fiumara, A.
Published in Journal of neurology (01.01.2015)
Published in Journal of neurology (01.01.2015)
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Journal Article
On the nomenclature of congenital disorders of glycosylation (CDG)
Jaeken, J, Hennet, T, Freeze, H. H, Matthijs, G
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Journal Article
Congenital disorders of glycosylation (CDG): Update and new developments
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Journal Article
Conference Proceeding
Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy
Ebbink, B J, Aarsen, F K, van Gelder, C M, van den Hout, J M P, Weisglas-Kuperus, N, Jaeken, J, Lequin, M H, Arts, W F M, van der Ploeg, A T
Published in Neurology (08.05.2012)
Published in Neurology (08.05.2012)
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Journal Article
Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review
Francisco, R, Pascoal, C, Marques-da-Silva, D, Morava, E, Gole, G A, Coman, D, Jaeken, J, Dos Reis Ferreira, Vanessa
Published in Journal of inherited metabolic disease (01.02.2018)
Published in Journal of inherited metabolic disease (01.02.2018)
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Journal Article
The skeletal manifestations of the congenital disorders of glycosylation
Coman, D, Irving, M, Kannu, P, Jaeken, J, Savarirayan, R
Published in Clinical genetics (01.06.2008)
Published in Clinical genetics (01.06.2008)
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Journal Article
Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation
NOÉ, L., DI MICHELE, M., GIETS, E., THYS, C., WITTEVRONGEL, C., DE VOS, R., OVERBERGH, L., WAELKENS, E., JAEKEN, J., VAN GEET, C., FRESON, K.
Published in Journal of thrombosis and haemostasis (01.07.2010)
Published in Journal of thrombosis and haemostasis (01.07.2010)
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