El-BeshlawyATylki-SzymanskaAVellodiA. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. Mol Genet Metab. 2017;120:47-56.
4.
CharrowJAnderssonHCKaplanP. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160:2835-2843.
5.
WeinrebNJDeeganPKacenaKA. Life expectancy in Gaucher disease type 1. Am J Hematol. 2008;83:896-900.
6.
PastoresGMWeinrebNJAertsH. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41:4-14.
CoxTMAertsJMBelmatougN. Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherit Metab Dis. 2008;31:319-336.
11.
Granovsky-GrisaruSBelmatougNvom DahlSMengelEMorrisEZimranA.The management of pregnancy in Gaucher disease. Eur J Obstet Gynecol Reprod Biol. 2011;156:3-8.
12.
SekijimaYOhashiTOhiraSKoshoTFukushimaY.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. 2010;32:2048-2052.
13.
ZimranAMorrisEMengelE. The female Gaucher patient: The impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause). Blood Cells Mol Dis. 2009;43:264-288.
MistryPKLukinaEBen TurkiaH. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA. 2015;313:695-706.
19.
CoxTMDrelichmanGCravoR. Eliglustat compared with imiglucerase in patients with Gaucher’s disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial. Lancet. 2015;385:2355-2362.
20.
CoxTMDrelichmanGCravoR. Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy. Blood. 2017;129(17):2375-2383.
21.
HicksJKSangkuhlKSwenJJ. Clinical Pharmacogenetics Implementation Consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update. Clin Pharmacol Ther. 2017;102(1): 1532-6535. doi:10.1002/cpt.597.
22.
PeterschmittMJCoxGFIbrahimJ. A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration. Blood Cells Mol Dis. 2017Jan13. pii: S1079-9796(17)30025-6. doi:10.1016/j.bcmd.2017.01.006.
SechiADeromaLDardisA. Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients. Mol Genet Metab. 2014;113(3):213-218.