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of 73
pro vyhledávání: '"Galactosemia network"'
Akademický článek
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Autor:
Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsycholo
Externí odkaz:
https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8
Autor:
Rubio-Gozalbo ME; Department of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Center, Maastricht, The Netherlands. estela.rubio@mumc.nl., Bosch AM; Department of Pediatrics, Academic Medical Center, University of Amsterdam, PO Box 5800, 6202 AZ, Maastricht, The Netherlands., Burlina A; Department of Pediatrics, University of Padova, Padova, Italy., Berry GT; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Treacy EP; National Centre for Inherited Metabolic Disorders, Temple St Childrens University Hospital and Mater Misericordiae University Hospital, Dublin, Ireland.; University College Dublin, Dublin, Ireland.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2017 Mar; Vol. 40 (2), pp. 169-170. Date of Electronic Publication: 2016 Nov 11.
Publikováno v:
Health & Medicine Week; 2024, p1370-1370, 1p
Autor:
Eileen P. Treacy, Gerard T. Berry, Annet M. Bosch, M. E. Rubio-Gozalbo, Alessandro P. Burlina
Publikováno v:
Journal of inherited metabolic disease, 40(2), 169-170. Springer Netherlands
Journal of inherited metabolic disease, Dordrecht, Springer, 2017, Vol. 40, no 2, p. 169-170
Journal of Inherited Metabolic Disease, 40(2), 169-170. Wiley
Journal of inherited metabolic disease, Dordrecht, Springer, 2017, Vol. 40, no 2, p. 169-170
Journal of Inherited Metabolic Disease, 40(2), 169-170. Wiley
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26121bc58bc343d6fb9d1c850c2ebee1
https://pure.amc.nl/en/publications/the-galactosemia-network-galnet(a796e485-7c38-4303-bf08-10bacc6b823d).html
https://pure.amc.nl/en/publications/the-galactosemia-network-galnet(a796e485-7c38-4303-bf08-10bacc6b823d).html
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
Autor:
Derks, Britt1,2,3,4 (AUTHOR), Demirbas, Didem5 (AUTHOR), Arantes, Rodrigo R.6 (AUTHOR), Banford, Samantha7 (AUTHOR), Burlina, Alberto B.3,8 (AUTHOR), Cabrera, Analía9 (AUTHOR), Chiesa, Ana10 (AUTHOR), Couce, M. Luz3,11 (AUTHOR), Dionisi-Vici, Carlo3,12 (AUTHOR), Gautschi, Matthias13 (AUTHOR), Grünewald, Stephanie14 (AUTHOR), Morava, Eva15 (AUTHOR), Möslinger, Dorothea16 (AUTHOR), Scholl-Bürgi, Sabine3,17 (AUTHOR), Skouma, Anastasia18 (AUTHOR), Stepien, Karolina M.19 (AUTHOR), Timson, David J.20 (AUTHOR), Berry, Gerard T.5 (AUTHOR), Rubio-Gozalbo, M. Estela1,2,3,4 (AUTHOR) estela.rubio@mumc.nl
Publikováno v:
Orphanet Journal of Rare Diseases. 9/2/2022, Vol. 17 Issue 1, p1-12. 12p.
Akademický článek
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Akademický článek
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