The natural history of classic galactosemia: lessons from the GalNet registry

by Rubio-Gozalbo, M E, Haskovic, M, Bosch, A M, Burnyte, B, Coelho, A I, Cassiman, D, Couce, M L, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, M T, Grunewald, S, Häberle, J, Hochuli, M, Hubert, A, Huidekoper, H H, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, Y E, Langendonk, J G, Möslinger, D, Müller-Wieland, D, Murphy, E, Õunap, K, Ramadza, D, Rivera, I A, Scholl-Buergi, S, Stepien, K M, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, R, de Vries, M, Waisbren, S E, Welsink-Karssies, M M, Wortmann, S B, Gautschi, M, Treacy, E P, Berry, G T
Published in Orphanet journal of rare diseases

Can psychiatric childhood disorders be due to inborn errors of metabolism?

by Simons, A., Eyskens, F., Glazemakers, I., van West, D.
Published in European child & adolescent psychiatry

Fabry disease: a review of current management strategies

by Mehta, A., Beck, M., Eyskens, F., Feliciani, C., Kantola, I., Ramaswami, U., Rolfs, A., Rivera, A., Waldek, S., Germain, D.P.
Published in QJM : An International Journal of Medicine

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

by De Meirleir, L, Seneca, S, Lissens, W, De Clercq, I, Eyskens, F, Gerlo, E, Smet, J, Van Coster, R
Published in Journal of medical genetics

Dietary management of urea cycle disorders: European practice

by Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, M., Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R., Jouault, C., Laguerre, C., Le Verge, S., Link, R., Lowry, S., Luyten, K., MacDonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., Vande Kerckhove, K., van Rijn, M., van Teeffelen-Heithoff, A., Wegberg, A.van, van Wyk, K., Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., Zweers, H.
Published in Molecular genetics and metabolism

Dietary practices in isovaleric acidemia: A European survey

by Pinto, A., Daly, A., Evans, S., Almeida, M.F., Assoun, M., Belanger-Quintana, A., Bernabei, S., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., de Boer, F., de Laet, C., de Meyer, A., Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund-Hansen, K., Horst, N., Jankowski, C., Janssen-Regelink, R., Jones, I., Jouault, C., Kahrs, G.E., Kok, I.L., Kowalik, A., Laguerre, C., Le Verge, S., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Robert, M., Rocha, J.C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Stolen, L.H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Vande Kerckhove, K., van Dam, E., van den Hurk, T., van der Ploeg, L., van Driessche, M., van Rijn, M., van Teeffelen-Heithoff, A., van Wegberg, A., Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F.J., White, L., Zweers, H., MacDonald, A.
Published in Molecular genetics and metabolism reports

An international, phase 3, switchover study of reveglucosidase alfa (BMN 701) in subjects with late-onset Pompe disease

by Schoser, B, Byrne, B, Eyskens, F, Hiwot, T, Hughes, D, Kissel, J, Mengel, E, Mozaffar, T, Pestronk, A, Roberts, M, Sivakumar, K, Statland, J, Young, P, Heusner, C, Dummer, W
Published in Neuromuscular disorders : NMD

Dietary practices in pyridoxine non-responsive homocystinuria: A European survey

by Adam, S., Almeida, M.F., Carbasius Weber, E., Champion, H., Chan, H., Daly, A., Dixon, M., Dokoupil, K., Egli, D., Evans, S., Eyskens, F., Faria, A., Ferguson, C., Hallam, P., Heddrich-Ellerbrok, M., Jacobs, J., Jankowski, C., Lachmann, R., Lilje, R., Link, R., Lowry, S., Luyten, K., MacDonald, A., Maritz, C., Martins, E., Meyer, U., Müller, E., Murphy, E., Robertson, L.V., Rocha, J.C., Saruggia, I., Schick, P., Stafford, J., Stoelen, L., Terry, A., Thom, R., van den Hurk, T., van Rijn, M., van Teefelen-Heithoff, A., Webster, D., White, F.J., Wildgoose, J., Zweers, H.
Published in Molecular genetics and metabolism

P001 Cystic fibrosis newborn screening (CF-NBS) start-up in Flanders (Belgium): report of first evaluation after 3 years

by Proesmans, M., Regal, L., Eyskens, F., Roosens, L., Marcelis, L., Seneca, S., Storm, K., Colaert, K., De Wachter, E.
Published in Journal of cystic fibrosis

Fabry disease in a patient with Turner syndrome

by Brouns, R., Eyskens, F., De Boeck, K., Ceuterick-de Groote, C., Van den Broeck, M., Van Broeckhoven, C., De Deyn, P. P.
Published in Journal of inherited metabolic disease

Neonatal thyroid-stimulating hormone concentrations in Belgium: a useful indicator for detecting mild iodine deficiency?

by Vandevijvere, Stefanie, Coucke, Wim, Vanderpas, Jean, Trumpff, Caroline, Fauvart, Maarten, Meulemans, Ann, Marie, Sandrine, Vincent, Marie-Françoise, Schoos, Roland, Boemer, François, Vanwynsberghe, Timothy, Philips, Eddy, Eyskens, François, Wuyts, Brigitte, Selimaj, Valbona, Van Overmeire, Bart, Kirkpatrick, Christine, Van Oyen, Herman, Moreno-Reyes, Rodrigo
Published in PloS one

P011 Cystic fibrosis – newborn screening (CF-NBS) start-up in Flanders (Belgium): report of first evaluation after two years

by Proesmans, M., Régal, L., Eyskens, F., Roosens, L., Marcelis, L., Seneca, S., Storme, K., Colaert, K., De Wachter, E.
Published in Journal of cystic fibrosis

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

by Mehta, A, Dr, Beck, M, Prof, Elliott, P, FRCP, Giugliani, R, Prof, Linhart, A, Prof, Sunder-Plassmann, G, Prof, Schiffmann, R, Prof, Barbey, F, MD, Ries, M, MD, Clarke, JTR, Prof
Published in The Lancet (British edition)

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

by van Wegberg, Annemiek M.J., Trefz, Friedrich, Gizewska, Maria, Ahmed, Sibtain, Chabraoui, Layachi, van Spronsen, Francjan J., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Cozens, A., Das, A.M., de las Heras Montero, J., Debray, F.G., Dercksen, M., Descartes, M., Eminoglu, F.T., Enns, G.M., Ford, S., Freisinger, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Hoi-Yee Wu, T., Jamuar, S.S., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Mitchell, J., Mochel, F., Morris, A., Moura de Souza, C.F., Munoz, T., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Pitt, J., Poon, G., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sander, J., Schwartz, I.V.D., Sharma, R., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Wagenmakers, M.A.E.M., Weinhold, N., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A.
Published in The Journal of pediatrics

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth re...

by Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Lund, Allan M., Rizopoulos, Dimitris, Kölker, Stefan, Williams, Monique, Hörster, F., Jelsig, A.M., de Lonlay, P., Wijburg, F.A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M.R., Häberle, J., Blasco-Alonso, J., Burlina, A.B., Rubert, L., Cazorla, A. Garcia, Saladelafont, E. Cortes I., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Karall, D., Scholl-Bürgi, S., De Laet, C., Matsumoto, S., de Meirleir, L., Schiff, M., Peña-Quintana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Vara, R., Vives-Pinera, I., Gil-Ortega, D., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M.C., Barić, I.
Published in Molecular genetics and metabolism

Hyperoxaluria with hyperglycoluria not due to alanine:glyoxylate aminotransferase defect: A novel type of primary hyperoxaluria

by VAN ACKER, K. J, EYSKENS, F. J, ESPEEL, M. F, WANDERS, R. J. A, DEKKER, C, KERCKAERT, I. O, ROELS, F
Published in Kidney international

Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome

by Jaeken, Jaak, Martens, Kevin, François, Inge, Eyskens, François, Lecointre, Claudine, Derua, Rita, Meulemans, Sandra, Slootstra, Jerry W., Waelkens, Etienne, de Zegher, Francis, Creemers, John W.M., Matthijs, Gert
Published in American journal of human genetics

Methylmalonic acidaemia in pregnancy

by Jacquemyn, Yves, Den Hartog, Marieke, Eyskens, Francois
Published in BMJ case reports

G.P.10 10 Newborn screening for Duchenne muscular dystrophy. The experience in the province of Antwerp

by Eyskens, F., Philips, E.
Published in Neuromuscular disorders : NMD

G.P.8 - An international, phase 3, switchover study of reveglucosidase alfa (BMN 701) in subjects with late-onset Pompe disease

by Schoser, B., Byrne, B., Eyskens, F., Hiwot, T., Hughes, D., Kissel, J., Mengel, E., Mozaffar, T., Pestronk, A., Roberts, M., Sivakumar, K., Statland, J., Young, P., Heusner, C., Dummer, W.
Published in Neuromuscular disorders : NMD