Orphanet Journal of Rare Diseases, 1750-1172

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  1. 2020
  2. Cross-cutting view of current challenges in paediatric solid organ and haematopoietic stem cell transplantation in Europe: The European Reference Network TransplantChild

    P. Jara, A. Baker, U. Baumann, A. M. Borobia, S. Branchereu, M. Candusso, A. J. Carcas, C. Chardot, J. Cobas, L. D'Antiga, C. Ferreras, E. Fitzpatrick, E. Frauca, F. Hernández-Oliveros, P. Kaliciński, C. Lindemans, M. F. Lopes, E. López-Granados, C. De Magnée, C. Mota & 11 others, J. M. Muñoz, J. J. Ojeda, A. Pérez-Martínez, G. Perilongo, J. Rascon, M. Sciveres, R. Stone, V. Tarutis, J. Toporski, J. M. Torres & L. Wennberg, 2020, In: Orphanet Journal of Rare Diseases. 15, 1, 16.

    Research output: Contribution to journalArticle

  3. 2019
  4. Arabidopsis thaliana alternative dehydrogenases: A potential therapy for mitochondrial complex i deficiency? Perspectives and pitfalls

    Alessia Catania, Arcangela Iuso, Juliette Bouchereau, Laura S. Kremer, Marina Paviolo, Caterina Terrile, Paule Bénit, Allan G. Rasmusson, Thomas Schwarzmayr, Valeria Tiranti, Pierre Rustin, Malgorzata Rak, Holger Prokisch & Manuel Schiff, 2019 Oct 29, In: Orphanet Journal of Rare Diseases. 14, 1, 236.

    Research output: Contribution to journalArticle

  5. Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; A consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability

    Jill Clayton-Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent, Amanda Wood, Janet Williams, Verna Cuthbert, Latha Hackett, Neelo Aslam, Heli Malm, Gregory James, Lena Westbom, Ruth Day, Edmund Ladusans, Adam Jackson, Iain Bruce, Robert Walker, Sangeet Sidhu, Catrina Dyer & 5 others, Jane Ashworth, Daniel Hindley, Gemma Arca DIaz, Myfanwy Rawson & Peter Turnpenny, 2019 Jul 19, In: Orphanet Journal of Rare Diseases. 14, 1, 180.

    Research output: Contribution to journalArticle

  6. Recommendations for patient screening in ultra-rare inherited metabolic diseases: What have we learned from Niemann-Pick disease type C?

    María Jesús Sobrido, Peter Bauer, Tom De Koning, Thomas Klopstock, Yann Nadjar, Marc C. Patterson, Matthis Synofzik & Chris J. Hendriksz, 2019 Jan 21, In: Orphanet Journal of Rare Diseases. 14, 1, 20.

    Research output: Contribution to journalReview article

  7. 2018
  8. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

    Petrus J de Vries, Anna C Jansen, Olof Rask & TOSCA Consortium and TOSCA Investigators TOSCA Consortium and TOSCA Investigators, 2018 Sep 10, In: Orphanet Journal of Rare Diseases. 13, 1, p. 157

    Research output: Contribution to journalArticle

  9. Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation

    Pietro Vajro, Katarzyna Zielinska, Bobby G. Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D'Acunto, Hudson H. Freeze & Erik A. Eklund, 2018 Jan 10, In: Orphanet Journal of Rare Diseases. 13, 1, 4.

    Research output: Contribution to journalArticle

  10. 2017
  11. Respiratory chain complex III deficiency due to mutated BCS1L: A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

    Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik A. Eklund & Vineta Fellman, 2017 Apr 20, In: Orphanet Journal of Rare Diseases. 12, 1, 73.

    Research output: Contribution to journalArticle

  12. The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: An observational prospective open-label study

    Martje E. Van Egmond, Amerins Weijenberg, Margreet E. Van Rijn, Jan Willem J. Elting, Jeannette M. Gelauff, Rodi Zutt, Deborah A. Sival, Roald A. Lambrechts, Marina A.J. Tijssen, Oebele F. Brouwer & Tom J. De Koning, 2017 Mar 7, In: Orphanet Journal of Rare Diseases. 12, 1, 45.

    Research output: Contribution to journalArticle

  13. 2016
  14. Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

    L. H. Koens, A. Kuiper, M. A. Coenen, J. W.J. Elting, J. J. De Vries, M. Engelen, J. H.T.M. Koelman, F. J. Van Spronsen, J. M. Spikman, T. J. De Koning & M. A.J. Tijssen, 2016 Sep 1, In: Orphanet Journal of Rare Diseases. 11, 1, 121.

    Research output: Contribution to journalArticle

  15. Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate

    Michiko Mori, Michael Dictor, Nicholas Brodszki, Juan Carlos López-Gutiérrez, María Beato, Jonas S. Erjefält & Erik A. Eklund, 2016 May 18, In: Orphanet Journal of Rare Diseases. 11, 1, 67.

    Research output: Contribution to journalArticle

  16. 2015
  17. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

    Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Barbara Schwierin, Audrey Muller, Peter Cornelisse, Mercè Pineda & NPC Registry investigators NPC Registry investigators, 2015 May 28, In: Orphanet Journal of Rare Diseases. 10, p. 65

    Research output: Contribution to journalArticle

  18. No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

    Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep Vasudevan, Koen Devriendt, Thomy Jl de Ravel, Hilde Van Esch, Ingele Casteels, Ignacio Arroyo Carrera, Francesca Cristofoli, Karen Fieggen, Katheryn Jones, Mark Lipson, Irina Balikova, Ami Singer, Maria Soller, María Mercedes Villanueva, Nicole Revencu, Laurence M Boon, Pascal Brouillard & 1 others, Miikka Vikkula, 2015, In: Orphanet Journal of Rare Diseases. 10, 1, 52.

    Research output: Contribution to journalArticle

  19. 2014
  20. Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning

    Hendriekje Eggink, Anouk Kuiper, Kathryn J. Peall, Maria Fiorella Contarino, Annet M. Bosch, Bart Post, Deborah A. Sival, Marina A.J. Tijssen & Tom J. de Koning, 2014 Jan 1, In: Orphanet Journal of Rare Diseases. 9, 177.

    Research output: Contribution to journalArticle

  21. 2013
  22. Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

    Yildiz Yildiz, Per Hoffmann, Stefan vom Dahl, Bernadette Breiden, Roger Sandhoff, Claus Niederau, Mia Horwitz, Stefan Karlsson, Mirella Filocamo, Deborah Elstein, Michael Beck, Konrad Sandhoff, Eugen Mengel, Maria C. Gonzalez, Markus M. Noethen, Ellen Sidransky, Ari Zimran & Manuel Mattheisen, 2013, In: Orphanet Journal of Rare Diseases. 8, 151.

    Research output: Contribution to journalArticle

  23. Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome

    Sandra Jester, Julia Larsson, Erik Eklund, Domniki Papadopoulou, Jan-Eric Mansson, Albert Békássy, Dominik Turkiewicz, Jacek Toporski & Ingrid Øra, 2013, In: Orphanet Journal of Rare Diseases. 8, 134

    Research output: Contribution to journalArticle

  24. 2012