Orphanet journal of rare diseases, 1750-1172

Journal

  1. 2020
  2. 2019
  3. van Vliet, K., van Ginkel, W. G., Jahja, R., Daly, A., MacDonald, A., De Laet, C., Vara, R., Rahman, Y., Cassiman, D., Eyskens, F., Timmer, C., Mumford, N., Bierau, J., van Hasselt, P. M., Gissen, P., Goyens, P. J., McKiernan, P. J., Wilcox, G., Morris, A. A. M., ... van Spronsen, F. J. (2019). Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients. Orphanet journal of rare diseases, 14(1), [285]. https://doi.org/10.1186/s13023-019-1259-2
  4. Martin, K., Geuens, S., Asche, J. K., Bodan, R., Browne, F., Downe, A., Garcia, N. G., Jaega, G., Kennedy, B., Mauritz, P. J., Perez, F., Soon, K., Zmazek, V., & Mayre-Chilton, K. M. (2019). Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines. Orphanet journal of rare diseases, 14, [133]. https://doi.org/10.1186/s13023-019-1086-5
  5. 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., ... Berry, G. T. (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet journal of rare diseases, 14(1), [86]. https://doi.org/10.1186/s13023-019-1047-z
  6. 2018
  7. van Vliet, D., van Wegberg, A. M. J., Ahring, K., Bik-Multanowski, M., Blau, N., Bulut, F. D., Casas, K., Didycz, B., Djordjevic, M., Federico, A., Feillet, F., Gizewska, M., Gramer, G., Hertecant, J. L., Hollak, C. E. M., Jørgensen, J. V., Karall, D., Landau, Y., Leuzzi, V., ... van Spronsen, F. J. (2018). Can untreated PKU patients escape from intellectual disability? A systematic review. Orphanet journal of rare diseases, 13(1), [149]. https://doi.org/10.1186/s13023-018-0890-7
  8. Pinto, A., Alfadhel, M., Akroyd, R., Altinok, Y. A., Bernabei, S. M., Bernstein, L., Bruni, G., Caine, G., Cameron, E., Carruthers, R., Cochrane, B., Daly, A., de Boer, F., Delaunay, S., Dianin, A., Dixon, M., Drogari, E., Dubois, S., Evans, S., ... MacDonald, A. (2018). International practices in the dietary management of fructose 1-6 biphosphatase deficiency. Orphanet journal of rare diseases, 13(21), [21]. https://doi.org/10.1186/s13023-018-0760-3
  9. Monte, T. L., Reckziegel, E. D. R., Augustin, M. C., Locks-Coelho, L. D., Santos, A. S. P., Furtado, G. V., de Mattos, E. P., Pedroso, J. L., Barsottini, O. P., Vargas, F. R., Saraiva-Pereira, M-L., Camey, S. A., Leotti, V. B., Jardim, L. B., & Rede Neurogenética (2018). The progression rate of spinocerebellar ataxia type 2 changes with stage of disease. Orphanet journal of rare diseases, 13(1), [20]. https://doi.org/10.1186/s13023-017-0725-y
  10. 2017
  11. van Wegberg, A. M. J., MacDonald, A., Ahring, K., Belanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Gizewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., van Rijn, M., Trefz, F., Walter, J. H., & van Spronsen, F. J. (2017). The complete European guidelines on phenylketonuria: Diagnosis and treatment. Orphanet journal of rare diseases, 12, [162]. https://doi.org/10.1186/s13023-017-0685-2
  12. 2016
  13. van Ginkel, W. G., Jahja, R., Huijbregts, S. C. J., Daly, A., MacDonald, A., De Laet, C., Cassiman, D., Eyskens, F., Korver-Keularts, I. M. L. W., Goyens, P. J., McKiernan, P. J., & van Spronsen, F. J. (2016). Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls. Orphanet journal of rare diseases, 11, [87]. https://doi.org/10.1186/s13023-016-0472-5
  14. van Capelle, C. I., van der Meijden, J. C., van den Hout, J. M. P., Jaeken, J., Baethmann, M., Voit, T., Kroos, M. A., Derks, T. G. J., Rubio-Gozalbo, M. E., Willemsen, M. A., Lachmann, R. H., Mengel, E., Michelakakis, H., de Jongste, J. C., Reuser, A. J. J., & van der Ploeg, A. T. (2016). Childhood Pompe disease: clinical spectrum and genotype in 31 patients. Orphanet journal of rare diseases, 11(1), [65]. https://doi.org/10.1186/s13023-016-0442-y
  15. 2015
  16. Pena, M. J., Almeida, M. F., van Dam, E., Ahring, K., Belanger-Quintana, A., Dokoupil, K., Gokmen-Ozel, H., Lammardo, A. M., MacDonald, A., Robert, M., & Rocha, J. C. (2015). Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile. Orphanet journal of rare diseases, 10, [162]. https://doi.org/10.1186/s13023-015-0378-7
  17. de Munnik, S. A., Hoefsloot, E. H., Roukema, J., Schoots, J., Knoers, N. V. A. M., Brunner, H. G., Jackson, A. P., & Bongers, E. M. H. F. (2015). Meier-Gorlin syndrome. Orphanet journal of rare diseases, 10, [114]. https://doi.org/10.1186/s13023-015-0322-x
  18. 2014
  19. Barisic, I., Boban, L., Greenlees, R., Garne, E., Wellesley, D., Calzolari, E., Addor, M-C., Arriola, L., Bergman, J. E. H., Braz, P., Budd, J. L. S., Gatt, M., Haeusler, M., Khoshnood, B., Klungsoyr, K., McDonnell, B., Nelen, V., Pierini, A., Queisser-Wahrendorf, A., ... Dolk, H. (2014). Holt Oram syndrome: a registry-based study in Europe. Orphanet journal of rare diseases, 9, [156]. https://doi.org/10.1186/s13023-014-0156-y
  20. Mayorandan, S., Meyer, U., Gokcay, G., Segarra, N. G., de Baulny, H. O., van Spronsen, F., Zeman, J., de laet, C., Spiekerkoetter, U., Thimm, E., Maiorana, A., Dionisi-Vici, C., Moeslinger, D., Brunner-Krainz, M., Lotz-Havla, A. S., de Juan, J. A. C., Pico, M. L. C., Santer, R., Scholl-Buergi, S., ... Das, A. M. (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet journal of rare diseases, 9, [107]. https://doi.org/10.1186/s13023-014-0107-7
  21. 2013
  22. Fernandez, R. M., Bleda, M., Luzon-Toro, B., Garcia-Alonso, L., Arnold, S., Sribudiani, Y., Besmond, C., Lantieri, F., Doan, B., Ceccherini, I., Lyonnet, S., Hofstra, R. M. W., Chakravarti, A., Antinolo, G., Dopazo, J., & Borrego, S. (2013). Pathways systematically associated to Hirschsprung's disease. Orphanet journal of rare diseases, 8, [187]. https://doi.org/10.1186/1750-1172-8-187
  23. Hofland, J., Hofland, L. J., van Koetsveld, P. M., Steenbergen, J., de Herder, W. W., van Eijck, C. H., de Krijger, R. R., van Nederveen, F. H., van Aken, M. O., de Groot, J. W., Links, T. P., de Jong, F. H., & Feelders, R. A. (2013). ACTH-independent macronodular adrenocortical hyperplasia reveals prevalent aberrant in vivo and in vitro responses to hormonal stimuli and coupling of arginine-vasopressin type 1a receptor to 11 beta-hydroxylase. Orphanet journal of rare diseases, 8, [142]. https://doi.org/10.1186/1750-1172-8-142
  24. van Heumen, B. W. H., Roelofs, H. M. J., Vink-Borger, M. E., Dekker, E., Mathus-Vliegen, E. M. H., Dees, J., Koornstra, J. J., Langers, A. M. J., Nagtegaal, I. D., Kampman, E., Peters, W. H. M., & Nagengast, F. M. (2013). Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: a multicentre, randomized controlled trial. Orphanet journal of rare diseases, 8, [118]. https://doi.org/10.1186/1750-1172-8-118
  25. Anjema, K., van Rijn, M., Hofstede, F. C., Bosch, A. M., Hollak, C. E. M., Rubio-Gozalbo, E., de Vries, M. C., Janssen, M. C. H., Boelen, C. C. A., Burgerhof, J. G. M., Blau, N., Fokkema, M., & van Spronsen, F. J. (2013). Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. Orphanet journal of rare diseases, 8, [103]. https://doi.org/10.1186/1750-1172-8-103
  26. Demirdas, S., van Kessel, I. N., Korndewal, M. J., Hollak, C. E. M., Meutgeert, H., Klaren, A., van Rijn, M., van Spronsen, F. J., Bosch, A. M., & Dutch Working Grp (2013). Clinical pathways for inborn errors of metabolism: warranted and feasible. Orphanet journal of rare diseases, 8, [37]. https://doi.org/10.1186/1750-1172-8-37
  27. 2012
  28. van der Beek, N. A. M. E., de Vries, J. M., Hagemans, M. L. C., Hop, W. C. J., Kroos, M. A., Wokke, J. H. J., de Visser, M., van Engelen, B. G. M., Kuks, J. B. M., van der Kooi, A. J., Notermans, N. C., Faber, K. G., Verschuuren, J. J. G. M., Reuser, A. J. J., van der Ploeg, A. T., & van Doorn, P. A. (2012). Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet journal of rare diseases, 7, [88]. https://doi.org/10.1186/1750-1172-7-88
  29. de Vries, J. M., van der Beek, N. A. M. E., Hop, W. C. J., Karstens, F. P. J., Wokke, J. H., de Visser, M., van Engelen, B. G. M., Kuks, J. B. M., van der Kooi, A. J., Notermans, N. C., Faber, C. G., Verschuuren, J. J. G. M., Kruijshaar, M. E., Reuser, A. J. J., van Doorn, P. A., & van der Ploeg, A. T. (2012). Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet journal of rare diseases, 7, [73]. https://doi.org/10.1186/1750-1172-7-73
  30. Bouvresse, S., Valeyrie-Allanore, L., Ortonne, N., Konstantinou, M. P., Kardaun, S. H., Bagot, M., Wolkenstein, P., & Roujeau, J-C. (2012). Toxic epidermal necrolysis, DRESS, AGEP: Do overlap cases exist? Orphanet journal of rare diseases, 7, [72]. https://doi.org/10.1186/1750-1172-7-72
  31. 2008

ID: 5737594