Orphanet Journal of Rare Diseases, 1750-1172

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  1. 2018
  2. Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation

    Vajro, P., Zielinska, K., Ng, B. G., Marco Maccarana, Per Bengtson, Poeta, M., Mandato, C., D'Acunto, E., Freeze, H. H. & Erik A. Eklund 2018 Jan 10 In : Orphanet Journal of Rare Diseases. 13, 1, 4

    Research output: Contribution to journalArticle

  3. 2017
  4. Respiratory chain complex III deficiency due to mutated BCS1L: A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

    Tegelberg, S., Tomašić, N., Kallijärvi, J., Purhonen, J., Eskil Elmér, Lindberg, E., David Gisselsson Nord, Soller, M., Lesko, N., Wedell, A., Bruhn, H., Freyer, C., Stranneheim, H., Wibom, R., Nennesmo, I., Wredenberg, A., Erik A. Eklund & Vineta Fellman 2017 Apr 20 In : Orphanet Journal of Rare Diseases. 12, 1, 73

    Research output: Contribution to journalArticle

  5. 2016
  6. 2015
  7. 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

    Patterson, M. C., Mengel, E., Vanier, M. T., Schwierin, B., Muller, A., Cornelisse, P., Pineda, M. & NPC Registry investigators 2015 May 28 In : Orphanet Journal of Rare Diseases. 10, p. 65

    Research output: Contribution to journalArticle

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

    Schlögel, M. J. , Mendola, A. , Fastré, E. , Vasudevan, P. , Devriendt, K. , de Ravel, T. J. , Van Esch, H. , Casteels, I. , Arroyo Carrera, I. , Cristofoli, F. , Fieggen, K. , Jones, K. , Lipson, M. , Balikova, I. , Singer, A. , Soller, M. , Mercedes Villanueva, M. , Revencu, N. , Boon, L. M. , Brouillard, P. & 1 others Vikkula, M. 2015 In : Orphanet Journal of Rare Diseases. 10, 1, 52

    Research output: Contribution to journalArticle

  9. 2013
  10. Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

    Yildiz, Y., Hoffmann, P., vom Dahl, S., Breiden, B., Sandhoff, R., Niederau, C., Horwitz, M., Stefan Karlsson, Filocamo, M., Elstein, D., Beck, M., Sandhoff, K., Mengel, E., Gonzalez, M. C., Noethen, M. M., Sidransky, E., Zimran, A. & Mattheisen, M. 2013 In : Orphanet Journal of Rare Diseases. 8, 151

    Research output: Contribution to journalArticle

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

    Jester, S., Larsson, J., Eklund, E., Papadopoulou, D., Mansson, J-E., Békássy, A., Turkiewicz, D., Toporski, J. & Ingrid Øra 2013 In : Orphanet Journal of Rare Diseases. 8, 134

    Research output: Contribution to journalArticle

  12. 2012