Orphanet Journal of Rare Diseases, 1750-1172

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

    Clayton-Smith, J., Bromley, R., Dean, J., Journel, H., Odent, S., Wood, A., Williams, J., Cuthbert, V., Hackett, L., Aslam, N., Malm, H., James, G., Westbom, L., Day, R., Ladusans, E., Jackson, A., Bruce, I., Walker, R., Sidhu, S., Dyer, C. & 5 othersAshworth, J., Hindley, D., DIaz, G. A., Rawson, M. & Turnpenny, P., 2019 Jul 19, In : Orphanet Journal of Rare Diseases. 14, 1, 180.

    Research output: Contribution to journalArticle

  2. 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

  3. 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

  4. 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 othersVikkula, M., 2015, In : Orphanet Journal of Rare Diseases. 10, 1, 52.

    Research output: Contribution to journalArticle

  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, In : Orphanet Journal of Rare Diseases. 12, 1, 73.

    Research output: Contribution to journalArticle

  6. 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

  7. 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, In : Orphanet Journal of Rare Diseases. 13, 1, 4.

    Research output: Contribution to journalArticle

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

    TOSCA Consortium and TOSCA Investigators & Olof Rask, 2018 Sep 10, In : Orphanet Journal of Rare Diseases. 13, 1, p. 157

    Research output: Contribution to journalArticle