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Enzyme Replacement Therapy for Treatment of Gaucher Disease

Selected References:

  • Aporta RR, et al. 1998. Alglucerase enzyme replacement therapy used safely and effectively throughout the whole pregnancy of a Gaucher disease patient. Haematologica. 83:852-3.
  • Amory, JK, et al. 2007. Miglustat has no apparent effect on spermatogenesis in normal men. Human Reproduction, 22(3), 702–707.
  • Dornelles AD, et al. 2014. Breastfeeding in Gaucher disease: is enzyme replacement therapy safe? Clin Ther.36:990-1.
  • Elstein Y, et al. 2004. Pregnancies in Gaucher disease: a 5-year study. Am J Obstet Gynecol. 190(2):435-41.
  • Elstein D et al. 2014. Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease. J Obstet Gynaecol Res.40(4):968-975.
  • Gary, Sam E. et al. Recent Advances in the Diagnosis and Management of Gaucher Disease. Expert Review of Endocrinology & Metabolism. 13(2): 107–18
  • Giannubilo SR, et al. 2015. Replacement therapy for Gaucher disease during pregnancy: A case report. J Reprod Infertil 16(1): 53-57.
  • Granovsky-Grisaru, S et al. 2011. The management of pregnancy in Gaucher disease. Eur I Obstet Gynecol Reprod Biol. 156: (1) 3-8.
  • Komninaka V, et al. 2020. Outcomes of pregnancies in patients with Gaucher Disease: The experience of a center of excellence on rare metabolic Disease-Gaucher Disease, in Greece. Eur J Obstet Gynecol Reprod Biol. 254:181-187.
  • Korkmazer E, et al. 2015. Pregnancy and lactation in a patient with Gaucher disease receiving enzyme replacement therapy: Case report. Turkey J Clin Obstet Gynecol. 25:224-6.
  • Lau H, et al. 2018. Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey. Blood Cells Mol Dis. 68:226-231.
  • Mamopoulos A M et al. 2009. Gaucher disease and pregnancy. J Obstet Gynaecol. 29: 240-242.
  • Murphy E. 2015. Pregnancy in women with inherited metabolic disease. Obstet Med. 8(2): 61-67.
  • Paskulin L, et al. Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe? Molecular Genetics and Metabolism Reports, 18, 30–31.
  • Rosenbaum H. 2015. Management of women with Gaucher disease in the reproductive age. Thromb Res. 135 Suppl 1:S49-51.
  • Roy, A., et al. 2006. Shaping the sperm head: an ER enzyme leaves its mark. Journal of Clinical Investigation, 116(11), 2860–2863.
  • Sekijima Y, et al. 2010. Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of Imiglucerase in human breast milk. Clin Ther. 32(12): 2048-2052.
  • Sherer Y, et al. 2002. Successful suc outcome in a patient with Gaucher’s disease and antiphospholipid syndrome. Ann Hematol. 81:161-3.
  • Stirnemann J, et al. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. International Journal of Molecular Sciences, 18(2), 441.
  • Weinreb, N. J. 2008. Imiglucerase and its use for the treatment of Gaucher’s disease. Expert Opinion on Pharmacotherapy, 9(11), 1987–2000.
  • Zimran A, et al. 2009. The female Gaucher patient: the impact of enzyme replacement therapy around key reproductive events. Blood Cells Mol Dis. 43:264-288.