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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
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Original Articles
Acesso em linha: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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