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Article

The definition of neuronopathic Gaucher disease.

Journal of inherited metabolic disease - 1 Sept 2020

Schiffmann Raphael, Sevigny Jeff, Rolfs Arndt, Davies Elin Haf, Goker-Alpan Ozlem, Abdelwahab Magy, Vellodi Ashok, Mengel Eugen, Lukina Elena, Yoo Han-Wook, Collin-Histed Tanya, Narita Aya, Dinur Tama, Revel-Vilk Shoshana, Arkadir David, Szer Jeff, Wajnrajch Michael, Ramaswami Uma, Sidransky Ellen, Donald Aimee, Zimran Ari

Abstract excerpt

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...

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Identifiers

PMID: 32242941
DOI: 10.1002/jimd.12235
PMCID: PMC7540563

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