The definition of neuronopathic Gaucher disease
AuthorSchiffmann, R; Sevigny, J; Rolfs, A; Davies, EH; Goker-Alpan, O; Abdelwahab, M; Vellodi, A; Mengel, E; Lukina, E; Yoo, H-W; ...
Source TitleJournal of Inherited Metabolic Disease
University of Melbourne Author/sSzer, Jeffrey
AffiliationMedicine and Radiology
Document TypeJournal Article
CitationsSchiffmann, 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 StatusOpen Access
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.
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