HIGHLIGHTS
- who: Marı́a J. Yañez and Silvana Zanlungo from the QPS Austria, Austria Iuliu Haţieganu University of Medicine have published the paper: Neuronopathic Gaucher disease: Beyond lysosomal dysfunction, in the Journal: (JOURNAL)
- what: In this review, the authors focused on collecting and discussing the evidence regarding different dysfunctional organelles in GD.
SUMMARY
Patients frequently present the GD2 triad with arthrogryposis and microcephaly hypokinesia (Mignot et_al, 2006; Weiss et_al, 2015). This phenotype is characterized by microglial activation, astrocytosis, and neuronal death in layers III and V of the cortex and . . .
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