Coxarthritis as the Presenting Symptom of Gaucher Disease Type 1

Gaucher disease (GD) type 1 is the most common lysosomal storage disorder due to beta glucocerebrosidase deficiency leading to an abnormal accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system. The disease presentation is usually characterized by signs and symptoms rel...

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Detalles Bibliográficos
Autores principales: Brisca, Giacomo, Di Rocco, Maja, Picco, Paolo, Damasio, Maria Beatrice, Martini, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199935/
https://www.ncbi.nlm.nih.gov/pubmed/22046515
http://dx.doi.org/10.1155/2011/361279

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