The definition of neuronopathic Gaucher disease

    Thumbnail
    Download
    Citations
    Scopus
    Altmetric
    4
    Author
    Schiffmann, R; Sevigny, J; Rolfs, A; Davies, EH; Goker-Alpan, O; Abdelwahab, M; Vellodi, A; Mengel, E; Lukina, E; Yoo, H-W; ...
    Date
    2020-09-01
    Source Title
    Journal of Inherited Metabolic Disease
    Publisher
    WILEY
    University of Melbourne Author/s
    Szer, Jeffrey
    Affiliation
    Medicine and Radiology
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Schiffmann, R., Sevigny, J., Rolfs, A., Davies, E. H., Goker-Alpan, O., Abdelwahab, M., Vellodi, A., Mengel, E., Lukina, E., Yoo, H. -W., Collin-Histed, T., Narita, A., Dinur, T., Revel-Vilk, S., Arkadir, D., Szer, J., Wajnrajch, M., Ramaswami, U., Sidransky, E. ,... Zimran, A. (2020). The definition of neuronopathic Gaucher disease. JOURNAL OF INHERITED METABOLIC DISEASE, 43 (5), pp.1056-1059. https://doi.org/10.1002/jimd.12235.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/251458
    DOI
    10.1002/jimd.12235
    Abstract
    Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form-Gaucher type 2-from the subacute or chronic form-Gaucher type 3. In this article, we define the various forms of Gaucher disease with particular emphasis on the presence of gaze palsy in all patients with nGD. This consensus definition will help in both clinical diagnosis and appropriate patient recruitment to upcoming clinical trials.

    Export Reference in RIS Format     

    Collections