A case of motor neuron involvement in Gaucher disease

Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive weakening of the limbs followed by upper motor neuron...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Metab Rep
Egile Nagusiak: Pozzilli, V., Giona, F., Ceccanti, M., Cambieri, C., Frasca, V., Onesti, E., Libonati, L., Di Bari, S., Fiorini, I., Cardarelli, L., Santopietro, M., Inghilleri, M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2019
Gaiak:
Case Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6895677/
https://ncbi.nlm.nih.gov/pubmed/31844629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100540
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