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Grabowski, Gregory
One or more keywords matched the following items that are connected to
Grabowski, Gregory
Item Type
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Concept
Psychosine
Academic Article
Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.
Academic Article
Ex vivo and in vivo effects of isofagomine on acid ?-glucosidase variants and substrate levels in Gaucher disease.
Academic Article
Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease.
Academic Article
CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.
Academic Article
Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.
Academic Article
Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.
Academic Article
Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.
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Psychosine