Author:
Desnick Jonathan P.,Kim Jungmin,He Xingxuan,Wasserstein Melissa P.,Simonaro Calogera M.,Schuchman Edward H.
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine
Reference11 articles.
1. Schuchman EH. (2007) The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J. Inherit. Metab. Dis. 30:654–63.
2. Patterson MC, et al. (2001) Niemann-Pick disease type C: a lipid trafficking disorder. In: The Metabolic and Molecular Bases of Inherited Disease. Scriver CR, et al. (eds.). 8th ed. McGraw-Hill, New York, pp. 3611–34.
3. Ferlinz K, Hurwitz R, Vielhaber G, Suzuki K, Sandhoff K. (1994) Occurrence of two molecular forms of human acid sphingomyelinase. Biochem. J. 301:855–62.
4. Ferlinz K, et al. (1997) Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis. Eur. J. Biochem. 243:511–7.
5. Levran O, Desnick RJ, Schuchman EH. (1991) Niemann-Pick type B disease: identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. J. Clin. Invest. 88:806–10.
Cited by
46 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献