Author:
Chaves Rigoberto Gadelha,Coelho Janice Carneiro,Michelin-Tirelli Kristiane,Maurício Tibelle Freitas,de Freitas Maia Chaves Edineide,de Almeida Paulo César,Maurício Carlos Rômulo Filgueira,Cavalcanti Geraldo Barroso
Publisher
Springer Berlin Heidelberg
Reference33 articles.
1. Abrahamov A, Elstein D et al (1995) Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet 346(8981):1000–1003
2. Aerts JM, Hollak C et al (2003) Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention. Philos Trans R Soc Lond B Biol Sci 358(1433):905–914
3. Amaral O, Pinto E, Fortuna M, Lacerda L (1996) Sa Miranda MC. Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. Hum Mutat 8:280–281
4. Amaral O, Marcao A et al (2000) Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. Eur J Hum Genet 8(2):95–102
5. Beutler E, Grabowski G (2001) Gaucher disease. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic and molecular bases of inheredited disease. McGraw-Hill, New York, pp 3635–3668
Cited by
7 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