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Rigshospitalet - a part of Copenhagen University Hospital

Orphanet Journal of Rare Diseases, 1750-1172

Journal

  1. 2020
  2. Published

    Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

    Scalco, R. S., Lucia, A., Santalla, A., Martinuzzi, A., Vavla, M., Reni, G., Toscano, A., Musumeci, O., Voermans, N. C., Kouwenberg, C. V., Laforêt, P., San-Millán, B., Vieitez, I., Siciliano, G., Kühnle, E., Trost, R., Sacconi, S., Stemmerik, M. G., Durmus, H., Kierdaszuk, B., Wakelin, A., Andreu, A. L., Pinós, T., Marti, R., Quinlivan, R., Vissing, J. & EUROMAC Consortium, 24 Nov 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 330

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Published

    Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study

    Mengel, E., Bembi, B., Del Toro, M., Deodato, F., Gautschi, M., Grunewald, S., Grønborg, S., Héron, B., Maier, E. M., Roubertie, A., Santra, S., Tylki-Szymanska, A., Day, S., Symonds, T., Hudgens, S., Patterson, M. C., Guldberg, C., Ingemann, L., Petersen, N. H. T., Kirkegaard, T. & Í Dali, C., 23 Nov 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 328

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Published

    Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

    EUROMAC Consortium, 15 Oct 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 187 187.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

    Hennermann, J. B., Guffon, N., Cattaneo, F., Ceravolo, F., Borgwardt, L., Lund, A. M., Gil-Campos, M., Tylki-Szymanska, A. & Muschol, N. M., 29 Sep 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 271

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published

    The macrophage activation marker soluble CD163 is elevated and associated with liver disease phenotype in patients with Wilson's disease

    Glavind, E., Gotthardt, D. N., Pfeiffenberger, J., Sandahl, T. D., Bashlekova, T., Willemoe, G. L., Hasselby, J. P., Weiss, K. H., Møller, H. J., Vilstrup, H., Lee, W. M., Schilsky, M. L., Ott, P. & Grønbæk, H., 2 Jul 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 173

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

    Eggermann, T., Elbracht, M., Kurth, I., Juul, A., Johannsen, T. H., Netchine, I., Mastorakos, G., Johannsson, G., Musholt, T. J., Zenker, M., Prawitt, D., Pereira, A. M., Hiort, O. & European Reference Network on Rare Endocrine Conditions (ENDO-ERN, 8 Jun 2020, In: Orphanet Journal of Rare Diseases. 15, 1, p. 144

    Research output: Contribution to journalReviewpeer-review

  8. 2019
  9. Published

    An ontological foundation for ocular phenotypes and rare eye diseases

    Sergouniotis, P. I., Maxime, E., Leroux, D., Olry, A., Thompson, R., Rath, A., Robinson, P. N., Dollfus, H., ERN-EYE Ontology Study Group, Hamann, S. E., Kessel, L. & Larsen, M., 9 Jan 2019, In: Orphanet Journal of Rare Diseases. 14, 1, p. 8 5 p.

    Research output: Contribution to journalLetterpeer-review

  10. Published

    Research activity and capability in the European reference network MetabERN

    Heard, J-M., Bellettato, C., van Lingen, C., Scarpa, M., MetabERN collaboration group & Lund, A. M., 2019, In: Orphanet Journal of Rare Diseases. 14, 1, p. 119

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. 2018
  12. Published

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Repp, B. M., Mastantuono, E., Alston, C. L., Schiff, M., Haack, T. B., Rötig, A., Ardissone, A., Lombès, A., Catarino, C. B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D., Wenhong, D., Lamantea, E., Ostergaard, E., Pronicka, E., Pierre, G., Smeets, H. J. M., Wittig, I., Scurr, I., de Coo, I. F. M., Moroni, I., Smet, J., Mayr, J. A., Dai, L., de Meirleir, L., Schuelke, M., Zeviani, M., Morscher, R. J., McFarland, R., Seneca, S., Klopstock, T., Meitinger, T., Wieland, T., Strom, T. M., Herberg, U., Ahting, U., Sperl, W., Nassogne, M-C., Ling, H., Fang, F., Freisinger, P., Van Coster, R., Strecker, V., Taylor, R. W., Häberle, J., Vockley, J., Prokisch, H. & Wortmann, S., 19 Jul 2018, In: Orphanet Journal of Rare Diseases. 13, 1, p. 120

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial

    Schiffmann, R., Bichet, D. G., Jovanovic, A., Hughes, D. A., Giugliani, R., Feldt-Rasmussen, U., Shankar, S. P., Barisoni, L., Colvin, R. B., Jennette, J. C., Holdbrook, F., Mulberg, A., Castelli, J. P., Skuban, N., Barth, J. A. & Nicholls, K., 27 Apr 2018, In: Orphanet Journal of Rare Diseases. 13, 1, p. 68

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. 2017
  15. Published

    The complete European guidelines on phenylketonuria: diagnosis and treatment

    van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, 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., 12 Oct 2017, In: Orphanet Journal of Rare Diseases. 12, 1, p. 162

    Research output: Contribution to journalReviewpeer-review

  16. Published

    Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

    Badiu, C., Bonomi, M., Borshchevsky, I., Cools, M., Craen, M., Ghervan, C., Hauschild, M., Hershkovitz, E., Hrabovszky, E., Juul, A., Kim, S-H., Kumanov, P., Lecumberri, B., Lemos, M. C., Neocleous, V., Niedziela, M., Djurdjevic, S. P., Persani, L., Phan-Hug, F., Pignatelli, D., Pitteloud, N., Popovic, V., Quinton, R., Skordis, N., Smith, N., Stefanija, M. A., Xu, C., Young, J., Dwyer, A. A. & COST Action BM1105, 20 Mar 2017, In: Orphanet Journal of Rare Diseases. 12, 1, p. 57

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2016
  18. Published

    Current models of care for disorders of sex development - results from an International survey of specialist centres

    Kyriakou, A., Dessens, A., Bryce, J., Iotova, V., Juul, A., Krawczynski, M., Nordenskjöld, A., Rozas, M., Sanders, C., Hiort, O. & Ahmed, S. F., 21 Nov 2016, In: Orphanet Journal of Rare Diseases. 11, 1, p. 155

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. 2015
  20. Published

    Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

    Cassis, L., Cortès-Saladelafont, E., Molero-Luis, M., Yubero, D., González, M. J., Herrero, A. O., Fons, C., Jou, C., Sierra, C., Castejon Ponce, E., Ramos, F., Armstrong, J., O'Callaghan, M. M., Casado, M., Montero, R., Olivas, S. M. M., Artuch, R., Barić, I., Bartoloni, F., Bellettato, C. M., Bonifazi, F., Ceci, A., Cvitanović-Šojat, L., Dali, C. I., D'Avanzo, F., Fumic, K., Giannuzzi, V., Lampe, C., Scarpa, M. & Garcia-Cazorla, Á., 30 Dec 2015, In: Orphanet Journal of Rare Diseases. 10, p. 164

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

    Borgwardt, L., Stensland, H. M. F. R., Olsen, K. J., Wibrand, F., Klenow, H. B., Beck, M., Amraoui, Y., Arash, L., Fogh, J., Nilssen, Ø., Dali, C. I. & Lund, A. M., 2015, In: Orphanet Journal of Rare Diseases. 10, p. 70

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Prevalence, incidence, and age at diagnosis in Marfan Syndrome

    Groth, K., Hove, H., Kyhl, K., Folkestad, L., Gaustadnes, M., Vejlstrup, N., Stochholm, K., Østergaard, J. R., Andersen, N. & Gravholt, C. H., 2015, In: Orphanet Journal of Rare Diseases. 10, p. 153

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

    Biegstraaten, M., Arngrímsson, R., Barbey, F., Boks, L., Cecchi, F., Deegan, P. B., Feldt-Rasmussen, U., Geberhiwot, T., Germain, D. P., Hendriksz, C., Hughes, D. A., Kantola, I., Karabul, N., Lavery, C., Linthorst, G. E., Mehta, A., van de Mheen, E., Oliveira, J. P., Parini, R., Ramaswami, U., Rudnicki, M., Serra, A., Sommer, C., Sunder-Plassmann, G., Svarstad, E., Sweeb, A., Terryn, W., Tylki-Szymanska, A., Tøndel, C., Vujkovac, B., Weidemann, F., Wijburg, F. A., Woolfson, P. & Hollak, C. E. M., 2015, In: Orphanet Journal of Rare Diseases. 10, p. 36

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile

    Pena, M. J., Almeida, M. F., van Dam, E., Ahring, K., Bélanger-Quintana, A., Dokoupil, K., Gokmen-Ozel, H., Lammardo, A. M., MacDonald, A., Robert, M. & Rocha, J. C., 2015, In: Orphanet Journal of Rare Diseases. 10, 1, p. 162

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. 2014
  26. Published

    A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntington¿s disease

    Vinther-Jensen, T., Larsen, I. U., Hjermind, L. E., Budtz-Jørgensen, E., Nielsen, T. T., Nørremølle, A., Nielsen, J. E. & Vogel, A., 17 Jul 2014, In: Orphanet Journal of Rare Diseases. 9, 1, p. 114

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    A multicenter study on Leigh syndrome: disease course and predictors of survival

    Sofou, K., De Coo, I. F. M., Isohanni, P., Ostergaard, E., Naess, K., De Meirleir, L., Tzoulis, C., Uusimaa, J., De Angst, I. B., Lönnqvist, T., Pihko, H., Mankinen, K., Bindoff, L. A., Tulinius, M. & Darin, N., 2014, In: Orphanet Journal of Rare Diseases. 9, p. 52

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Hamartomatous polyposis syndromes: a review

    Jelsig, A. M., Qvist, N., Brusgaard, K., Nielsen, C. B., Plato Hansen, T. & Ousager, L. B., 2014, In: Orphanet Journal of Rare Diseases. 9, p. 101

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

    Baumgartner, M. R., Hörster, F., Dionisi-Vici, C., Haliloglu, G., Karall, D., Chapman, K. A., Huemer, M., Hochuli, M., Assoun, M., Ballhausen, D., Burlina, A., Fowler, B., Grünert, S. C., Grünewald, S., Honzik, T., Merinero, B., Pérez-Cerdá, C., Scholl-Bürgi, S., Skovby, F., Wijburg, F., MacDonald, A., Martinelli, D., Sass, J. O., Valayannopoulos, V. & Chakrapani, A., 2014, In: Orphanet Journal of Rare Diseases. 9, p. 130

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. 2012
  31. Published

    Clinical expression of Menkes disease in females with normal karyotype

    Møller, L. B., Lenartowicz, M., Zabot, M-T., Josiane, A., Burglen, L., Bennett, C., Riconda, D., Fisher, R., Janssens, S., Mohammed, S., Ausems, M., Tümer, Z., Horn, N. & Jensen, T., 2012, In: Orphanet Journal of Rare Diseases. 7, p. 6

    Research output: Contribution to journalJournal articleResearchpeer-review

  32. Published

    Dominant optic atrophy

    Lenaers, G., Hamel, C., Delettre, C., Amati-Bonneau, P., Procaccio, V., Bonneau, D., Reynier, P. & Milea, D., 2012, In: Orphanet Journal of Rare Diseases. 7, p. 46

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. 2011
  34. Published

    Exon duplications in the ATP7A gene: frequency and transcriptional behaviour

    Mogensen, M., Skjørringe, T., Kodama, H., Silver, K., Horn, N. & Møller, L. B., 2011, In: Orphanet Journal of Rare Diseases. 6, p. 73

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

    Scarpa, M., Almássy, Z., Beck, M., Bodamer, O., Bruce, I. A., De Meirleir, L., Guffon, N., Guillén-Navarro, E., Hensman, P., Jones, S., Kamin, W., Kampmann, C., Lampe, C., Lavery, C. A., Teles, E. L., Link, B., Lund, A. M., Malm, G., Pitz, S., Rothera, M., Stewart, C., Tylki-Szymańska, A., van der Ploeg, A., Walker, R., Zeman, J. & Wraith, J. E., 2011, In: Orphanet Journal of Rare Diseases. 6, p. 72

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

    Ravn, K. J. T., Roende, G., Duno, M., Fuglsang, K., Eiklid, K. L., Tümer, Z., Nielsen, J. B. & Skjeldal, O. H., 2011, In: Orphanet Journal of Rare Diseases. 6, p. 58

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. 2007
  38. Published

    Oculocutaneous albinism

    Grønskov, K., Ek, J. & Brondum-Nielsen, K., 2 Nov 2007, In: Orphanet Journal of Rare Diseases. 2, p. 43

    Research output: Contribution to journalReviewpeer-review

ID: 138548