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1Academic Journal
المؤلفون: Rubio-Gozalbo, M.E. (Estela), Haskovic, M., van den Bosch, A.M., Burnyte, B., Coelho, A.I., Cassiman, D, Couce, ML, Dawson, C., Demirbas, D., Derks, T., Eyskens, F. (François), Forga, M.T., Grünewald, S. (Sonja), Häberle, J. (Johannes), Hochuli, M. (Michel), Hubert, A., Huidekoper, H.H., Janeiro, P., Kotzka, J., Knerr, I. (Ina), Labrune, P., Landau, Y.E., Langendonk, J.G. (Janneke), Moeslinger, D., Mueller-Wieland, D., Murphy, E. (Elaine), Õunap, K. (Katrin), Ramadza, D., Rivera, I.A., Scholl-Buergi, S., Stepien, K.M., Thijs, A., Tran, C., Vara, R, Visser, G., Vos, R.O., Vries, M. (Marieke) de, Waisbren, S.E., Welsink-Karssies, M.M., Wortmann, S.B. (S.), Gautschi, M. (Matthias), Treacy, E.P., Berry, G.T.
المصدر: Orphanet Journal of Rare Diseases vol. 14
مصطلحات موضوعية: Registry, Natural history, Galactosemia, GALT deficiency, Galactosemia network
وصف الملف: application/pdf
Relation: http://repub.eur.nl/pub/116995; urn:hdl:1765/116995
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2Academic Journal
المؤلفون: Kuiper, A., Grünewald, S. (Sonja), Murphy, E. (Elaine), Coenen, M.A., Eggink, H., Zutt, R., Rubio-Gozalbo, M.E. (Estela), van den Bosch, A.M., Williams, M. (Martine), Derks, T.G.J. (Terry G J), Lachmann, R.H.L., Brouwers, M. (M.), Janssen, M.C.H. (Mirian), Tijssen, M.A., Koning, T.J. (Tom) de
المصدر: Journal of Inherited Metabolic Disease vol. 42 no. 3, pp. 451-458
مصطلحات موضوعية: galactosemia, dystonia, tremor, daily functioning, nonmotor symptoms
وصف الملف: application/pdf
Relation: http://repub.eur.nl/pub/116904; urn:hdl:1765/116904
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3Academic Journal
المؤلفون: Oussoren, E. (Esmée), van Eerd, D. (David), Murphy, E. (Elaine), Lachmann, R.H. (Robin), Meijden, J.C. (Chris) van der, Hoefsloot, E.H. (Lies), Verdijk, R.M. (Robert), Ruijter, G.J.G. (George), Maas, M. (Mario), Hollak, C.E.M. (Carla), Langendonk, J.G. (Janneke), Ploeg, A.T. (Ans) van der, Langeveld, M. (Mirjam)
المصدر: Journal of Inherited Metabolic Disease, pp. 1-10
وصف الملف: application/pdf
Relation: http://repub.eur.nl/pub/106120; urn:hdl:1765/106120