Orphanet Journal of Rare Diseases, 1750-1172

Tidskrift

Fler filtreringsmöjligheter
  1. 2018
  2. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

    TOSCA Consortium and TOSCA Investigators & Olof Rask, 2018 sep 10, I : Orphanet Journal of Rare Diseases. 13, 1, s. 157

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. 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. & Eklund, E. A., 2018 jan 10, I : Orphanet Journal of Rare Diseases. 13, 1, 4.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. 2017
  5. 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., Eklund, E. A. & Vineta Fellman, 2017 apr 20, I : Orphanet Journal of Rare Diseases. 12, 1, 73.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. 2016
  7. 2015
  8. 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 maj 28, I : Orphanet Journal of Rare Diseases. 10, s. 65

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. 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 andraVikkula, M., 2015, I : Orphanet Journal of Rare Diseases. 10, 1, 52.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. 2013
  11. 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, I : Orphanet Journal of Rare Diseases. 8, 151.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. 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, I : Orphanet Journal of Rare Diseases. 8, 134

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. 2012