Improved clinical management of lysosomal disorders

Impact: Health impacts


  1. 2011
  2. Published

    Recombinant human acid {alpha}-glucosidase: Major clinical benefits in infantile-onset Pompe disease.

    Kishnani, P. S., Corzo, D., Nicolino, M., Byrne, B., Mandel, H., Hwu, W. L., Leslie, N., Levine, J., Spencer, C., McDonald, M., Li, J., Dumontier, J., Halberthal, M., Chien, Y. H., Hopkin, R., Vijayaraghavan, S., Gruskin, D., Bartholomew, D., van der Ploeg, A., Clancy, J. P. & 12 others, Parini, R., Morin, G., Beck, M., De la Gastine, G. S., Jokic, M., Thurberg, B., Richards, S., Bali, D., Davison, M., Worden, M. A., Chen, Y. T. & Wraith, J. E., 25 Oct 2011, In : Neurology. 77, 17

    Research output: Contribution to journalArticle

  3. 2010
  4. Published

    Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease

    Malinowska, M., Wilkinson, F. L., Langford-Smith, K. J., Langford-Smith, A., Brown, J. R., Crawford, B. E., Vanier, M. T., Grynkiewicz, G., Wynn, R. F., Ed Wraith, J., Wegrzyn, G. & Bigger, B. W., 2010, In : PLoS ONE. 5, 12, e14192.

    Research output: Contribution to journalArticle

  5. 2009
  6. Published

    Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy

    Wynn, R. F., Wraith, J. E., Mercer, J., O'Meara, A., Tylee, K., Thornley, M., Church, H. J. & Bigger, B. W., Apr 2009, In : Journal Of Pediatrics. 154, 4, p. 609-611 2 p.

    Research output: Contribution to journalArticle

  7. 2007
  8. Published

    Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

    Patterson, M. C., Vecchio, D., Prady, H., Abel, L. & Wraith, J. E., Sep 2007, In : The Lancet Neurology. 6, 9, p. 765-772 7 p.

    Research output: Contribution to journalArticle

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