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Gaucher Disease

Selected References:

  • Bodamer OA, et al. 2010. Laboratory and genetic evaluation of Gaucher disease. Wien Med Wochenschr; 160(23-24):600-4. PMID: 20714811 DOI: 10.1007/s10354-010-0814-1
  • 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. PMID: 34908889 PMCID: PMC8665828 DOI: 10.2147/JBM.S279756
  • 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.
  • 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. PMID: 33473343 PMCID: PMC7802626 DOI: 10.1002/jmd2.12172
  • 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.
  • Sakarelou N, et al. 1999. Pregnancy in Gaucher disease, Eur J Obstet Gynecol Reprod Biol. ;83(1):113-4. PMID: 10221620 DOI: 10.1016/s0301-2115(98)00235-8
  • 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. PMID: 21301776 DOI: 10.1160/TH10-07-0503
  • 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 118(6):1463-1471.

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