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dc.contributor.authorSchiffmann, R
dc.contributor.authorSevigny, J
dc.contributor.authorRolfs, A
dc.contributor.authorDavies, EH
dc.contributor.authorGoker-Alpan, O
dc.contributor.authorAbdelwahab, M
dc.contributor.authorVellodi, A
dc.contributor.authorMengel, E
dc.contributor.authorLukina, E
dc.contributor.authorYoo, H-W
dc.contributor.authorCollin-Histed, T
dc.contributor.authorNarita, A
dc.contributor.authorDinur, T
dc.contributor.authorRevel-Vilk, S
dc.contributor.authorArkadir, D
dc.contributor.authorSzer, J
dc.contributor.authorWajnrajch, M
dc.contributor.authorRamaswami, U
dc.contributor.authorSidransky, E
dc.contributor.authorDonald, A
dc.contributor.authorZimran, A
dc.date.accessioned2020-11-17T03:16:03Z
dc.date.available2020-11-17T03:16:03Z
dc.date.issued2020-09-01
dc.identifier.citationSchiffmann, 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.
dc.identifier.issn0141-8955
dc.identifier.urihttp://hdl.handle.net/11343/251458
dc.description.abstractNeuronopathic 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.
dc.languageEnglish
dc.publisherWILEY
dc.titleThe definition of neuronopathic Gaucher disease
dc.typeJournal Article
dc.identifier.doi10.1002/jimd.12235
melbourne.affiliation.departmentMedicine and Radiology
melbourne.source.titleJournal of Inherited Metabolic Disease
melbourne.source.volume43
melbourne.source.issue5
melbourne.source.pages1056-1059
dc.rights.licenseCC BY
melbourne.elementsid1444620
melbourne.contributor.authorSzer, Jeffrey
dc.identifier.eissn1573-2665
pubs.acceptance.date2020-03-19
melbourne.accessrightsOpen Access


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