Zobrazeno 1 - 4
of 4
pro vyhledávání: '"H H Huidekoper"'
Autor:
J. Schaefers, L. J. van der Giessen, C. Klees, E. H. Jacobs, S. Sieverdink, M. H. G. Dremmen, J. K. H. Spoor, A. T. van der Ploeg, J. M. P. van den Hout, H. H. Huidekoper
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare rapidly progressive neurodegenerative disorder, resulting in early death. Intracerebroventricular enzyme replacement therapy (ERT) with cerliponase alfa is now availab
Externí odkaz:
https://doaj.org/article/8c57c49f00064c658440a8768520074c
Autor:
M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to t
Externí odkaz:
https://doaj.org/article/20f1c5ba16b242a794c606a704d94859
Autor:
A Thijs, Patrícia Janeiro, Ina Knerr, Ana I. Coelho, Aurélie Hubert, Dirk Müller-Wieland, Philippe Labrune, D Ramadza, M T Forga, Isabel Rivera, Rein Vos, Saskia B. Wortmann, María L. Couce, Gerard T. Berry, Christel Tran, Elaine Murphy, Didem Demirbas, Roshni Vara, Charlotte Dawson, Janneke G. Langendonk, Katrin Õunap, Mendy M. Welsink-Karssies, M Haskovic, Eileen P. Treacy, Johannes Häberle, Matthias Gautschi, Annet M. Bosch, Stephanie Grunewald, Gepke Visser, Birute Burnyte, S Scholl-Buergi, David Cassiman, M. E. Rubio-Gozalbo, Susan E. Waisbren, Yuval Landau, François Eyskens, Karolina M. Stepien, Jorg Kotzka, H H Huidekoper, Michel Hochuli, Dorothea Möslinger, Terry G J Derks, M.S. de Vries
Publikováno v:
Orphanet journal of rare diseases, 14(1):86. BMC
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; ... (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet journal of rare diseases, 14(1), p. 86. BioMed Central 10.1186/s13023-019-1047-z
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Orphanet journal of rare diseases
Orphanet journal of rare diseases, London : BioMed Central Ltd., 2019, vol. 14, art. no 86, p. [1-11]
Orphanet journal of rare diseases, 14(1):86. BioMed Central
Orphanet journal of rare diseases, vol. 14, no. 1, pp. 86
Orphanet Journal of Rare Diseases, 14:86. BioMed Central Ltd.
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseases, 14:86. BioMed Central Ltd
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 2019, ' The natural history of classic galactosemia: Lessons from the GalNet registry ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 86 . https://doi.org/10.1186/s13023-019-1047-z
Orphanet Journal of Rare Diseases, 14(1). BioMed Central
Orphanet Journal of Rare Diseases, 14(1):86. BioMed Central
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; ... (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet journal of rare diseases, 14(1), p. 86. BioMed Central 10.1186/s13023-019-1047-z
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Orphanet journal of rare diseases
Orphanet journal of rare diseases, London : BioMed Central Ltd., 2019, vol. 14, art. no 86, p. [1-11]
Orphanet journal of rare diseases, 14(1):86. BioMed Central
Orphanet journal of rare diseases, vol. 14, no. 1, pp. 86
Orphanet Journal of Rare Diseases, 14:86. BioMed Central Ltd.
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseases, 14:86. BioMed Central Ltd
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 2019, ' The natural history of classic galactosemia: Lessons from the GalNet registry ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 86 . https://doi.org/10.1186/s13023-019-1047-z
Orphanet Journal of Rare Diseases, 14(1). BioMed Central
Orphanet Journal of Rare Diseases, 14(1):86. BioMed Central
Background: Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9621af2463fe452b8a626ef40cc6ee1a
https://research.rug.nl/en/publications/cec5aa55-6214-4b55-8fc1-1667be0be520
https://research.rug.nl/en/publications/cec5aa55-6214-4b55-8fc1-1667be0be520
Publikováno v:
Compendium kindergeneeskunde ISBN: 9789036817912
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19220652a970004db34de8e17d05ebd5
https://doi.org/10.1007/978-90-368-1792-9_42
https://doi.org/10.1007/978-90-368-1792-9_42