Search Results - "JAEKEN, J."

Congenital disorders of glycosylation by Jaeken, J

“…Congenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis or the attachment of the glycan moiety of glycoproteins and…”
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The challenge of CDG diagnosis by Francisco, R., Marques-da-Silva, D., Brasil, S., Pascoal, C., dos Reis Ferreira, V., Morava, E., Jaeken, J.

“…Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases that currently includes some 130 different types. CDG diagnosis is…”
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Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature by Marques-da-Silva, D., dos Reis Ferreira, V., Monticelli, M., Janeiro, P., Videira, P. A., Witters, P., Jaeken, J., Cassiman, D.

“…Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known…”
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Skin manifestations in CDG by Rymen, D., Jaeken, J.

“…The group of congenital disorders of glycosylation (CDG) has expanded tremendously since its first description in 1980, with around 70 distinct disorders…”
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Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature by Marques-da-Silva, D., Francisco, R., Webster, D., dos Reis Ferreira, V., Jaeken, J., Pulinilkunnil, T.

“…Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic…”
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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 by 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.

“…We aim to provide an updated literature overview on patient-reported barriers and facilitators to participation in SDM across different patient groups and…”
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Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals by 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

“…Abstract Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2…”
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Congenital disorders of glycosylation (CDG): It's all in it by Jaeken, J.

“…Congenital disorders of glycosylation (CDGs) are due to defects in the synthesis of the glycan moiety of glycoproteins or other glycoconjugates. This review is…”
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MALDI‐MS profiling of serum O‐glycosylation and N‐glycosylation in COG5‐CDG by 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.

“…Congenital disorders of glycosylation (CDG) are due to defective glycosylation of glycoconjugates. Conserved oligomeric Golgi (COG)‐CDG are genetic diseases…”
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Assessing the effects of PMM2 variants on protein stability by 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.

“…Phosphomannomutase 2 deficiency, PMM2-CDG, is the most frequent disorder of protein N-glycosylation. It is an autosomal recessive disease with a broad clinical…”
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Childhood Pompe disease: clinical spectrum and genotype in 31 patients by 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

“…As little information is available on children with non-classic presentations of Pompe disease, we wished to gain knowledge of specific clinical…”
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Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect by 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.

“…Essentials We investigated the molecular base of antithrombin deficiency in cases without SERPINC1 defects. 27% of cases presented hypoglycosylation, transient…”
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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data by 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.

“…Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay,…”
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A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation by 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.

“…PMM2-CDG ( PMM2 gene mutations) is the most common congenital disorder of N -glycosylation. We conducted a nationwide survey to characterize the frequency,…”
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On the nomenclature of congenital disorders of glycosylation (CDG) by Jaeken, J, Hennet, T, Freeze, H. H, Matthijs, G

“…A new nomenclature of CDG is proposed because the current one is too complex for clinicians and provides no added value…”
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Congenital disorders of glycosylation (CDG): Update and new developments by Jaeken, J.

“…After a brief overview on CDG, this workshop concentrated on the experience with (mostly) known CDG in a European country (the Czech Republic) and on the…”
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Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy by EBBINK, B. J, AARSEN, F. K, GELDER, C. M. Van, DEN HOUT, J. M. P. Van, WEISGLAS-KUPERUS, N, JAEKEN, J, LEQUIN, M. H, ARTS, W. F. M, DER PLOEG, A. T. Van

“…Classic infantile Pompe disease affects many tissues, including the brain. Untreated infants die within their first year. Although enzyme-replacement therapy…”
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Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review by Francisco, R, Pascoal, C, Marques-da-Silva, D, Morava, E, Gole, G A, Coman, D, Jaeken, J, Dos Reis Ferreira, Vanessa

“…Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even…”
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The skeletal manifestations of the congenital disorders of glycosylation by Coman, D, Irving, M, Kannu, P, Jaeken, J, Savarirayan, R

“…The congenital disorders of glycosylation (CDG) are a rapidly expanding disease group with protean presentations. Specific end‐organ involvement leads to…”
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Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation by 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.

“…Background: Regulator of G‐protein signaling (RGS) 2 negatively regulates Gs signaling by inhibiting the activation of adenylyl cyclase (AC). RGS2 mRNA…”
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