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Items: 1 to 50 of 230

1.

Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).

Zimran A, Belmatoug N, Bembi B, Deegan P, Elstein D, Fernandez-Sasso D, Giraldo P, Goker-Alpan O, Lau H, Lukina E, Panahloo Z, Schwartz IVD; GOS Study group.

Am J Hematol. 2018 Feb;93(2):205-212. doi: 10.1002/ajh.24957. Epub 2017 Dec 12.

2.

Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials.

Elstein D, Mellgard B, Dinh Q, Lan L, Qiu Y, Cozma C, Eichler S, Böttcher T, Zimran A.

Mol Genet Metab. 2017 Sep;122(1-2):113-120. doi: 10.1016/j.ymgme.2017.08.005. Epub 2017 Aug 24.

3.

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

Mehta A, Belmatoug N, Bembi B, Deegan P, Elstein D, Göker-Alpan Ö, Lukina E, Mengel E, Nakamura K, Pastores GM, Pérez-López J, Schwartz I, Serratrice C, Szer J, Zimran A, Di Rocco M, Panahloo Z, Kuter DJ, Hughes D.

Mol Genet Metab. 2017 Nov;122(3):122-129. doi: 10.1016/j.ymgme.2017.08.002. Epub 2017 Aug 4.

4.

Children with type 1 Gaucher disease: Changing profiles in the 21st century.

Elstein D, Altarescu G, Abrahamov A, Zimran A.

Blood Cells Mol Dis. 2018 Feb;68:93-96. doi: 10.1016/j.bcmd.2016.12.009. Epub 2016 Dec 19.

PMID:
28185830
5.

Classifying the additional morbidities of Gaucher disease.

Langeveld M, Elstein D, Szer J, Hollak CEM, Zimran A.

Blood Cells Mol Dis. 2018 Feb;68:209-210. doi: 10.1016/j.bcmd.2016.12.006. Epub 2016 Dec 19. No abstract available.

PMID:
28024892
6.

Growth and final height of children with Gaucher disease: A 15-year follow-up at an Israeli Gaucher center.

Mendelsohn E, Meir A, Abrahamov A, Elstein D, Zimran A, Levy-Khademi F.

Blood Cells Mol Dis. 2018 Feb;68:97-99. doi: 10.1016/j.bcmd.2016.11.014. Epub 2016 Dec 9.

PMID:
27993449
7.

Bone mineral density and lean muscle mass characteristics in children with Gaucher disease treated with enzyme replacement therapy or untreated.

Dar L, Tiomkin M, Elstein D, Zimran A, Lebel E.

Blood Cells Mol Dis. 2018 Feb;68:135-138. doi: 10.1016/j.bcmd.2016.10.006. Epub 2016 Nov 9. No abstract available.

PMID:
27847274
8.

Liver involvement in Gaucher disease - Review and clinical approach.

Adar T, Ilan Y, Elstein D, Zimran A.

Blood Cells Mol Dis. 2018 Feb;68:66-73. doi: 10.1016/j.bcmd.2016.10.001. Epub 2016 Oct 19. Review.

PMID:
27842801
9.

Treatment-naïve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials.

Zimran A, Elstein D, Gonzalez DE, Lukina EA, Qin Y, Dinh Q, Turkia HB.

Blood Cells Mol Dis. 2018 Feb;68:153-159. doi: 10.1016/j.bcmd.2016.10.007. Epub 2016 Oct 21.

10.

Comparison of Bone Mineral Density by Dual-Energy X-Ray Absorptiometry and Bone Strength by Speed-of-Sound Ultrasonography in Adults With Gaucher Disease.

Baskin E, Dinur T, Lebel E, Tiomkin M, Elstein D, Zimran A.

J Clin Densitom. 2016 Oct;19(4):465-470. doi: 10.1016/j.jocd.2015.12.002. Epub 2016 Jan 15.

PMID:
26781431
11.

Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease.

Elstein D, Burrow TA, Charrow J, Giraldo P, Mehta A, Pastores GM, Lee HM, Mellgard B, Zimran A.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):111-115. doi: 10.1016/j.ymgme.2016.08.005. Epub 2016 Aug 23.

12.

ASPECTS OF PATIENT REPORTED OUTCOMES IN RARE DISEASES: A DISCUSSION PAPER.

Rüther A, Elstein D, Wong-Rieger D, Guyatt G.

Int J Technol Assess Health Care. 2016 Jan;32(3):126-30. doi: 10.1017/S0266462316000271. Epub 2016 Aug 15.

PMID:
27523091
13.

New Directions in Gaucher Disease.

Horowitz M, Elstein D, Zimran A, Goker-Alpan O.

Hum Mutat. 2016 Nov;37(11):1121-1136. doi: 10.1002/humu.23056. Epub 2016 Aug 21. Review.

PMID:
27449603
14.

The association between ABO blood group and obstetric hemorrhage.

Drukker L, Srebnik N, Elstein D, Levitt L, Samueloff A, Farkash R, Grisaru-Granovsky S, Sela HY.

J Thromb Thrombolysis. 2016 Oct;42(3):340-5. doi: 10.1007/s11239-016-1360-5.

PMID:
27071803
15.

13,845 home therapy infusions with velaglucerase alfa exemplify safety of velaglucerase alfa and increased compliance to every-other-week intravenous enzyme replacement therapy for Gaucher disease.

Elstein D, Abrahamov A, Oz A, Arbel N, Baris H, Zimran A.

Blood Cells Mol Dis. 2015 Dec;55(4):415-8. doi: 10.1016/j.bcmd.2015.09.002. Epub 2015 Sep 21. Review.

PMID:
26460268
16.

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

Zeevi DA, Altarescu G, Weinberg-Shukron A, Zahdeh F, Dinur T, Chicco G, Herskovitz Y, Renbaum P, Elstein D, Levy-Lahad E, Rolfs A, Zimran A.

J Clin Invest. 2015 Oct 1;125(10):3757-65. doi: 10.1172/JCI79322. Epub 2015 Aug 31.

17.

Color Discrimination in Patients with Gaucher Disease and Parkinson Disease.

Simon-Tov S, Dinur T, Giladi N, Bar-Shira A, Zelis M, Zimran A, Elstein D.

J Parkinsons Dis. 2015;5(3):525-31. doi: 10.3233/JPD-150585.

PMID:
26406132
18.

The emergence of Parkinson disease among patients with Gaucher disease.

Elstein D, Alcalay R, Zimran A.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):249-59. doi: 10.1016/j.beem.2014.08.007. Epub 2014 Aug 23. Review.

PMID:
25987177
19.

Seven-year safety and efficacy with velaglucerase alfa for treatment-naïve adult patients with type 1 Gaucher disease.

Zimran A, Wang N, Ogg C, Crombez E, Cohn GM, Elstein D.

Am J Hematol. 2015 Jul;90(7):577-83. doi: 10.1002/ajh.24040. Epub 2015 May 28.

20.

Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study.

Osher E, Fattal-Valevski A, Sagie L, Urshanski N, Sagiv N, Peleg L, Lerman-Sagie T, Zimran A, Elstein D, Navon R, Valevski A, Stern N.

Orphanet J Rare Dis. 2015 Apr 17;10:45. doi: 10.1186/s13023-015-0260-7.

21.

Thromboelastography as a Surrogate Marker of Perisurgical Hemostasis in Gaucher Disease.

Ioscovich A, Fadeev D, Kenet G, Naamad M, Schtrechman G, Zimran A, Elstein D.

Clin Appl Thromb Hemost. 2016 Oct;22(7):693-7. doi: 10.1177/1076029615578165. Epub 2015 Mar 27.

PMID:
25818635
22.

Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long-term data from phase III clinical trials.

Hughes DA, Gonzalez DE, Lukina EA, Mehta A, Kabra M, Elstein D, Kisinovsky I, Giraldo P, Bavdekar A, Hangartner TN, Wang N, Crombez E, Zimran A.

Am J Hematol. 2015 Jul;90(7):584-91. doi: 10.1002/ajh.24012.

23.

Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease.

Elstein D, Mehta A, Hughes DA, Giraldo P, Charrow J, Smith L, Shankar SP, Hangartner TN, Kunes Y, Wang N, Crombez E, Zimran A.

Am J Hematol. 2015 Jul;90(7):592-7. doi: 10.1002/ajh.24007.

24.

Screening for Gaucher disease: new challenges.

Zimran A, Altarescu G, Elstein D.

Isr Med Assoc J. 2014 Nov;16(11):723-4. No abstract available.

25.

Bone mineral density in gravida: effect of pregnancies and breast-feeding in women of differing ages and parity.

Lebel E, Mishukov Y, Babchenko L, Samueloff A, Zimran A, Elstein D.

J Osteoporos. 2014;2014:897182. doi: 10.1155/2014/897182. Epub 2014 Nov 20.

26.

Safety and efficacy of two dose levels of taliglucerase alfa in pediatric patients with Gaucher disease.

Zimran A, Gonzalez-Rodriguez DE, Abrahamov A, Elstein D, Paz A, Brill-Almon E, Chertkoff R.

Blood Cells Mol Dis. 2015 Jan;54(1):9-16. doi: 10.1016/j.bcmd.2014.10.002. Epub 2014 Nov 7.

27.

Management of Gaucher disease: enzyme replacement therapy.

Zimran A, Elstein D.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:82-7. Review.

PMID:
25345089
28.

The effects of maternal age and parity on maternal and neonatal outcome.

Schimmel MS, Bromiker R, Hammerman C, Chertman L, Ioscovich A, Granovsky-Grisaru S, Samueloff A, Elstein D.

Arch Gynecol Obstet. 2015 Apr;291(4):793-8. doi: 10.1007/s00404-014-3469-0. Epub 2014 Sep 17.

PMID:
25227657
29.

α-Synuclein rs356219 polymorphisms in patients with Gaucher disease and Parkinson disease.

Altarescu G, Ioscovich D, Alcalay RN, Zimran A, Elstein D.

Neurosci Lett. 2014 Sep 19;580:104-7. doi: 10.1016/j.neulet.2014.07.051. Epub 2014 Aug 8.

PMID:
25111979
30.

An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke.

Zeevi DA, Hakam-Spector E, Herskovitz Y, Beeri R, Elstein D, Altarescu G.

Gene. 2014 Oct 10;549(2):275-9. doi: 10.1016/j.gene.2014.08.004. Epub 2014 Aug 4.

PMID:
25101867
31.

Hypothesis: Concordance of Gaucher disease and large granular lymphocytic leukemia has biological plausibility.

Ruchlemer R, Maayan H, Elstein D, Broide E, Reinus C, Zimran A.

Blood Cells Mol Dis. 2014 Dec;53(4):219-20. doi: 10.1016/j.bcmd.2014.06.004. Epub 2014 Jul 19. No abstract available.

PMID:
25053276
32.

Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.

Alcalay RN, Dinur T, Quinn T, Sakanaka K, Levy O, Waters C, Fahn S, Dorovski T, Chung WK, Pauciulo M, Nichols W, Rana HQ, Balwani M, Bier L, Elstein D, Zimran A.

JAMA Neurol. 2014 Jun;71(6):752-7. doi: 10.1001/jamaneurol.2014.313.

33.

Vitamin D receptor polymorphism FokI is associated with spontaneous idiopathic preterm birth in an Israeli population.

Manzon L, Altarescu G, Tevet A, Schimmel MS, Elstein D, Samueloff A, Grisaru-Granovsky S.

Eur J Obstet Gynecol Reprod Biol. 2014 Jun;177:84-8. doi: 10.1016/j.ejogrb.2014.03.008. Epub 2014 Mar 15.

PMID:
24702903
34.

Anesthetic management for oocyte retrieval: An exploratory analysis comparing outcome in in vitro fertilization cycles with and without pre-implantation genetic diagnosis.

Ioscovich A, Eldar-Geva T, Weitman M, Altarescu G, Rivilis A, Elstein D.

J Hum Reprod Sci. 2013 Oct;6(4):263-6. doi: 10.4103/0974-1208.126303.

35.

Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease.

Elstein D, Hughes D, Goker-Alpan O, Stivel M, Baris HN, Cohen IJ, Granovsky-Grisaru S, Samueloff A, Mehta A, Zimran A.

J Obstet Gynaecol Res. 2014 Apr;40(4):968-75. doi: 10.1111/jog.12254. Epub 2014 Feb 26. Erratum in: J Obstet Gynaecol Res. 2014 Sep;40(9):2088.

PMID:
24612151
36.

Impact of velaglucerase alfa on bone marrow burden score in adult patients with type 1 Gaucher disease: 7-year follow-up.

Elstein D, Haims AH, Zahrieh D, Cohn GM, Zimran A.

Blood Cells Mol Dis. 2014 Jun-Aug;53(1-2):56-60. doi: 10.1016/j.bcmd.2014.02.006. Epub 2014 Feb 25.

PMID:
24581483
37.

Achievement of therapeutic goals with low-dose imiglucerase in Gaucher disease: a single-center experience.

Tukan I, Hadas-Halpern I, Altarescu G, Abrahamov A, Elstein D, Zimran A.

Adv Hematol. 2013;2013:151506. doi: 10.1155/2013/151506. Epub 2013 Oct 28.

38.

Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients.

Rolfs A, Giese AK, Grittner U, Mascher D, Elstein D, Zimran A, Böttcher T, Lukas J, Hübner R, Gölnitz U, Röhle A, Dudesek A, Meyer W, Wittstock M, Mascher H.

PLoS One. 2013 Nov 20;8(11):e79732. doi: 10.1371/journal.pone.0079732. eCollection 2013.

39.

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.

Yildiz Y, Hoffmann P, Vom Dahl S, Breiden B, Sandhoff R, Niederau C, Horwitz M, Karlsson S, Filocamo M, Elstein D, Beck M, Sandhoff K, Mengel E, Gonzalez MC, Nöthen MM, Sidransky E, Zimran A, Mattheisen M.

Orphanet J Rare Dis. 2013 Sep 26;8:151. doi: 10.1186/1750-1172-8-151.

40.

Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease.

Altarescu G, Haim S, Elstein D.

Biomarkers. 2013 Nov;18(7):595-600. doi: 10.3109/1354750X.2013.836244. Epub 2013 Sep 10.

PMID:
24020479
41.

Effect of thrombocytopenia on mode of analgesia/anesthesia and maternal and neonatal outcomes.

Dikman D, Elstein D, Levi GS, Granovsky-Grisaru S, Samueloff A, Gozal Y, Ioscovich A.

J Matern Fetal Neonatal Med. 2014 Apr;27(6):597-602. doi: 10.3109/14767058.2013.836483. Epub 2013 Oct 11.

PMID:
23962227
42.

Safety and efficacy of velaglucerase alfa replacement therapy for patients with type 1 Gaucher disease.

Elstein D, Zimran A.

Expert Rev Endocrinol Metab. 2013 Jul;8(4):333-339. doi: 10.1586/17446651.2013.811871.

PMID:
30736148
43.

Histologic findings of femoral heads from patients with Gaucher disease treated with enzyme replacement.

Lebel E, Elstein D, Peleg A, Reinus C, Zimran A, Amir G.

Am J Clin Pathol. 2013 Jul;140(1):91-6. doi: 10.1309/AJCPFVSAEGO67NGT.

PMID:
23765538
44.

Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.

Gonzalez DE, Turkia HB, Lukina EA, Kisinovsky I, Dridi MF, Elstein D, Zahrieh D, Crombez E, Bhirangi K, Barton NW, Zimran A.

Am J Hematol. 2013 Mar;88(3):166-71. doi: 10.1002/ajh.23381. Epub 2013 Feb 6.

45.

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

Zimran A, Pastores GM, Tylki-Szymanska A, Hughes DA, Elstein D, Mardach R, Eng C, Smith L, Heisel-Kurth M, Charrow J, Harmatz P, Fernhoff P, Rhead W, Longo N, Giraldo P, Ruiz JA, Zahrieh D, Crombez E, Grabowski GA.

Am J Hematol. 2013 Mar;88(3):172-8. doi: 10.1002/ajh.23383. Epub 2013 Jan 22.

46.

Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.

Altarescu G, Beeri R, Eiges R, Epsztejn-Litman S, Eldar-Geva T, Elstein D, Zimran A, Margalioth EJ, Levy-Lahad E, Renbaum P.

Mol Biol Int. 2012;2012:797342. doi: 10.1155/2012/797342. Epub 2012 Dec 26.

47.

Phenotype in patients with Gaucher disease and Parkinson disease.

Chetrit EB, Alcalay RN, Steiner-Birmanns B, Altarescu G, Phillips M, Elstein D, Zimran A.

Blood Cells Mol Dis. 2013 Mar;50(3):218-21. doi: 10.1016/j.bcmd.2012.11.011. Epub 2012 Dec 20.

PMID:
23265741
48.

Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease.

van Dussen L, Zimran A, Akkerman EM, Aerts JM, Petakov M, Elstein D, Rosenbaum H, Aviezer D, Brill-Almon E, Chertkoff R, Maas M, Hollak CE.

Blood Cells Mol Dis. 2013 Mar;50(3):206-11. doi: 10.1016/j.bcmd.2012.11.001. Epub 2012 Nov 28.

PMID:
23199589
49.

Cognitive testing in Fabry disease: pilot using a brief computerized assessment tool.

Elstein D, Doniger GM, Altarescu G.

Isr Med Assoc J. 2012 Oct;14(10):624-8.

50.

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease.

Zimran A, Altarescu G, Elstein D.

Blood Cells Mol Dis. 2013 Feb;50(2):134-7. doi: 10.1016/j.bcmd.2012.09.006. Epub 2012 Oct 22.

PMID:
23085429

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