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

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

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