The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-007-0632-9
Reference75 articles.
1. Barbon CM, Ziegler RJ, Li C, et al (2005) AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann–Pick disease. Mol Ther 12: 431–440.
2. Brady RO, Kanfer JN, Mock MB, et al (1966) The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann–Pick disease. Proc Natl Acad Sci USA 55: 366–369.
3. Cerneca F, Andolina M, Simeone R, Boscolo R, Ciana G, Bembi B (1997) Treatment of patients with Niemann–Pick type is using repeated amniotic epithelial cells implantation: correction of aggregation and coagulation abnormalities. Clin Pediatr 36: 141–146.
4. Cox TM (2005) Substrate reduction therapy for lysosomal storage diseases. Acta Paediatr 94: 69–75.
5. Crocker AC (1961) The cerebral defect in Tay–Sachs disease and Niemann–Pick disease. J Neurochem 17: 69.
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