The definition of neuronopathic Gaucher disease

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 d...

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Bibliografiske detaljer
Udgivet i:J Inherit Metab Dis
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2020
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7540563/
https://ncbi.nlm.nih.gov/pubmed/32242941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12235
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