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Identification of a Biomarker in Cerebrospinal Fluid for Neuronopathic Forms of Gaucher Disease

Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involvement. We now identify a protein, glycoprotein non-...

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Detalles Bibliográficos
Autores principales: Zigdon, Hila, Savidor, Alon, Levin, Yishai, Meshcheriakova, Anna, Schiffmann, Raphael, Futerman, Anthony H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361053/
https://www.ncbi.nlm.nih.gov/pubmed/25775479
http://dx.doi.org/10.1371/journal.pone.0120194