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The Spectrum of Neurological Manifestations Associated with Gaucher Disease

Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease i...

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Detalles Bibliográficos
Autores principales: Roshan Lal, Tamanna, Sidransky, Ellen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456331/
https://www.ncbi.nlm.nih.gov/pubmed/28933363
http://dx.doi.org/10.3390/diseases5010010