La relación genotipo y fenotipo de la enfermedad de Gaucher

1. Grabowski GA. Gaucher disease: lesson from a decade of therapy. J Pediatr 2004;144(5):24-45.

2. Christomanou H, Aignesberger A, Linke RP. Immunochemical characterization of two activator proteins stimulating enzyme sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant. Biol Chem Hoppe Seyler 1986;367:879-90.

3. Horowitz M, Wilder S, Horowitz Z, Reiner O, Gelbart T, Beutler E. The human glucocerebrosidase gene and pseudogene: Structure and evolution. Genomics 1989;4:87-96.

4. Berent SL, Radin SN. Mechanism of activation of glucocerebrosidase by co-ß-glucosidase (glucosidase activator protein). Biochim Biophys Acta 1981;664:572-82.

5. Giraldo MP, Giralt M, Perez-Clavo, et al. Enfermedad de Gaucher: Epidemiología, clínica, diagnóstico y terapéutica. España: Editorial Ibargüen SC; 2004. p. 25-7.

6. Giraldo P, Giralt P, Pocovi M. Enfermedad de Gaucher. España: Editorial Ibargüen SC; 2004. p. 57-95.

7. Wenstrup RJ, Roca-Espiau M, Weinreb NJ. Skeletal aspects of Gaucher disease: a review. Br J Radiol 2002;75:105-10.

8. Alterescu G, Hill S, Wiggs E. The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher disease. J Pediatr 2001;138(4):90-5.

9. Campbell P, Harris C, Vellodi A. Deterioration of the auditory brainstem response in children with type 3 Gaucher Disease. Neurology 2004;63(2):45-9.

10. Tayebi N, Stubblefield B, Parck J. Reciprocal and nonreciprocal recombination al the glucocerebrosidase gene region: implications for complexity in Gaucher Disease. Am J Hum Genet 2003;72(3):519-34.

11. Beutler ER, Grabowski GA. Gaucher disease. The Metabolic and molecular bases of inherited disease, 8th edition. New York: Mac Graw Hill; 2001. p. 3635-68

12. Hatton CE, Cooper A, Whitehouse C. Mutation analysis in 46 British and Irish patients with Gaucher disease. Arch Dis Child 1997;77:17-22.

13. Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA. Phenotype/ genotype correlations in Gaucher disease type I: Clinical and therapeutic implications. Am J Hum Genet 1993;52:1094-7.

14. Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E. Prediction of severity of Gaucher´s disease by identification of mutations at DNA level. Lancet 1989;2:349-59.

15. Zimran A, Gelbart T, Westwood B, Grabowski GA, Beutler E. High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. Am J Hum Genet 1991;49:855-7.

16. Zimran A, Kay A, Gelbart T, Garver P, Thurston D. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine 1992;71:337-40.

17. Charrow J, Esplin JA, Gribble TJ, Kaplan P, Kolodny EH. Gaucher disease: Recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 1998;158:1754-9.

18. Charrow J, Andersson HC, Kaplan P, Kolodny E, Mistry PK. The Gaucher registry: Demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000;160:2835-41.

19. Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry PK. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr 2004;144:112-15.

20. Moscicki RA. Dosage regimens of alglucerase in Gaucher disease: A comparison of the rate and extent of clinical response. ICGG Regis Update August 1, 1995.