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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.
Sun Y, Liou B, Ran H, Skelton MR, Williams MT, Vorhees CV, Kitatani K, Hannun YA, Witte DP, Xu YH, Grabowski GA. Sun Y, et al. Among authors: grabowski ga. Hum Mol Genet. 2010 Mar 15;19(6):1088-97. doi: 10.1093/hmg/ddp580. Epub 2010 Jan 4. Hum Mol Genet. 2010. PMID: 20047948 Free PMC article.
292 results