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MotherToBaby

Medications and More during pregnancy and breastfeeding

Gaucher Disease

Selected References:

  • Bodamer OA, et al. 2010. Laboratory and genetic evaluation of Gaucher disease. Wien Med Wochenschr.; 160(23-24):600-4. 
  • Cox TM, et al. 2008. Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphonate therapy, use of biomarkers, and bone disease monitoring. J Inherit Metab Dis. 31:319-336. 
  • Dornelles AD, et al. 2014. Breastfeeding in Gaucher disease: is enzyme replacement therapy safe? Clin Ther; 36(6):990-1.  
  • Elstein Y, et al. 2004. Pregnancies in Gaucher disease: a 5-year study. Am J Obstet Gynecol; 190:435–41. 
  • Giannubilo SR, et al. 2015. Replacement Therapy for Gaucher Disease during Pregnancy: A Case Report. J Reprod Infertil;16(1):53-7.  
  • Giraldo P, et al. 2021. Novel Management and Screening Approaches for Haematological Complications of Gaucher’s Disease. J Blood Med; 12:1045-1056.  
  • Granovsky-Grisaru S, et al. 2011. The management of pregnancy in Gaucher disease. Eur I Obstet Gynecol Reprod Biol. 156: (1) 3-8. 
  • Hughes DA, Pastores GM. 2000 [Updated December 7, 2023]. GeneReviews: Gaucher Disease. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1269/. Accessed 12/2023. 
  • 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. doi:10.1016/j.ejogrb.2020.09.027 
  • 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. 
  • Lukina E, et al. 2020. Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trials. JIMD Rep; 57(1):76-84.  
  • Mamopoulos A M, et al. 2009. Gaucher disease and pregnancy. J Obstet Gynaecol; 29: 240-242.
  • Rosenbaum H. 2015. Management of women with Gaucher disease in the reproductive age. Thromb Res; 136(2):489.  
  • Revel-Vilk S, et al. 2026. Maternal and Fetal Outcomes in Imiglucerase-Treated Patients with Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry. J Inherit Metab Dis; 49(2):e70161.  
  • Sakarelou N, et al. 1999. Pregnancy in Gaucher disease, Eur J Obstet Gynecol Reprod Biol; 83(1):113-4.  
  • 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):2048-52. 
  • Simchen MJ, et al. 2011. Impaired platelet function and peripartum bleeding in women with Gaucher disease. Thromb Haemost;105(3):509-14.  
  • Sugiura T, et al. 2022. Gaucher disease carrier with gestational thrombocytopenia and anemia: a case report. J Med Case Rep. 13;16(1):203. 
  • 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. 
  • Zimran, A. 2011. How I treat Gaucher Disease. Blood; 11

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