Publications

Pastores

1.

Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat.

Kamath RS, Lukina E, Watman N, Dragosky M, Pastores GM, Arreguin EA, Rosenbaum H, Zimran A, Aguzzi R, Puga AC, Norfleet AM, Peterschmitt MJ, Rosenthal DI.

Skeletal Radiol. 2014 Oct;43 (10) :1353-60. Epub 2014 May 10. PMID: 24816856

2.

A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase.

Pastores GM, Petakov M, Giraldo P, Rosenbaum H, Szer J, Deegan PB, Amato DJ, Mengel E, Tan ES, Chertkoff R, Brill-Almon E, Zimran A.

Blood Cells Mol Dis. 2014 Jun 17; Epub 2014 Jun 17. PMID: 24950666

3.

Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4years of treatment.

Lukina E, Watman N, Dragosky M, Pastores GM, Arreguin EA, Rosenbaum H, Zimran A, Angell J, Ross L, Puga AC, Peterschmitt JM.

Blood Cells Mol Dis. 2014 May 14; Epub 2014 May 14. PMID: 24835462

4.

A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability.

Pastores GM, Rosenbloom B, Weinreb N, Goker-Alpan O, Grabowski G, Cohn GM, Zahrieh D.

Genet Med. 2014 May;16 (5) :359-66. Epub 2013 Nov 21. PMID: 24263462

5.

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. Epub 2013 Jan 22. PMID: 23339116

6.

Haematological manifestations and complications of Gaucher disease.

Hughes DA, Pastores GM.

Curr Opin Hematol. 2013 Jan;20 (1) :41-7. PMID: 23108221

7.

Parkinson's disease in patients and obligate carriers of Gaucher disease.

Becker JG, Pastores GM, Di Rocco A, Ferraris M, Graber JJ, Sathe S.

Parkinsonism Relat Disord. 2013 Jan;19 (1) :129-31. Epub 2012 Aug 31. PMID: 22940477

8.

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.

Zhang CK, Stein PB, Liu J, Wang Z, Yang R, Cho JH, Gregersen PK, Aerts JM, Zhao H, Pastores GM, Mistry PK.

Am J Hematol. 2012 Apr;87 (4) :377-83. Epub 2012 Mar 3. PMID: 22388998

9.

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity.

Stein P, Yang R, Liu J, Pastores GM, Mistry PK.

J Inherit Metab Dis. 2011 Apr;34 (2) :429-37. Epub 2011 Feb 3. PMID: 21290183

10.

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy.

Stein P, Malhotra A, Haims A, Pastores GM, Mistry PK.

J Inherit Metab Dis. 2010 Dec;33 (6) :769-74. Epub 2010 Aug 4. PMID: 20683668

11.

Neuropathic Gaucher disease.

Pastores GM.

Wien Med Wochenschr. 2010 Dec;160 (23-24) :605-8. PMID: 21221912

12.

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study.

Lukina E, Watman N, Arreguin EA, Dragosky M, Iastrebner M, Rosenbaum H, Phillips M, Pastores GM, Kamath RS, Rosenthal DI, Kaper M, Singh T, Puga AC, Peterschmitt MJ.

Blood. 2010 Nov 18;116 (20) :4095-8. Epub 2010 Aug 16. PMID: 20713962

13.

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

Lukina E, Watman N, Arreguin EA, Banikazemi M, Dragosky M, Iastrebner M, Rosenbaum H, Phillips M, Pastores GM, Rosenthal DI, Kaper M, Singh T, Puga AC, Bonate PL, Peterschmitt MJ.

Blood. 2010 Aug 12;116 (6) :893-9. Epub 2010 May 3. PMID: 20439622

14.

Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.

Saunders-Pullman R, Hagenah J, Dhawan V, Stanley K, Pastores G, Sathe S, Tagliati M, Condefer K, Palmese C, Brüggemann N, Klein C, Roe A, Kornreich R, Ozelius L, Bressman S.

Mov Disord. 2010 Jul 30;25 (10) :1364-72. PMID: 20629126

15.

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease.

Taddei TH, Dziura J, Chen S, Yang R, Hyogo H, Sullards C, Cohen DE, Pastores G, Mistry PK.

J Inherit Metab Dis. 2010 Jun;33 (3) :291-300. Epub 2010 Mar 31. PMID: 20354791

17.

Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease.

Pastores GM.

Curr Opin Investig Drugs. 2010 Apr;11 (4) :472-8. PMID: 20336596

18.

The risk of Parkinson's disease in type 1 Gaucher disease.

Bultron G, Kacena K, Pearson D, Boxer M, Yang R, Sathe S, Pastores G, Mistry PK.

J Inherit Metab Dis. 2010 Apr;33 (2) :167-73. Epub 2010 Feb 23. PMID: 20177787

19.

Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease.

Pastores GM.

BioDrugs. 2010 Feb 1;24 (1) :41-7. PMID: 20055531

20.

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients.

Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK.

Am J Hematol. 2009 Apr;84 (4) :208-14. PMID: 19260119

21.

Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser?

Sidransky E, Pastores GM, Mori M.

Genet Med. 2009 Feb;11 (2) :90-1. PMID: 19265747

22.

Goal-oriented therapy with miglustat in Gaucher disease.

Pastores GM, Giraldo P, Chérin P, Mehta A.

Curr Med Res Opin. 2009 Jan;25 (1) :23-37. PMID: 19210136

23.

Life expectancy in Gaucher disease type 1.

Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, vom Dahl S.

Am J Hematol. 2008 Dec;83 (12) :896-900. PMID: 18980271

24.

Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies.

Pastores GM, Elstein D, Hrebícek M, Zimran A.

Clin Ther. 2007 Aug;29 (8) :1645-54. PMID: 17919546

25.

Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease.

Wenstrup RJ, Kacena KA, Kaplan P, Pastores GM, Prakash-Cheng A, Zimran A, Hangartner TN.

J Bone Miner Res. 2007 Jan;22 (1) :119-26. PMID: 17032149

26.

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment.

Pastores GM, Barnett NL, Kolodny EH.

Clin Ther. 2005 Aug;27 (8) :1215-27. PMID: 16199246

27.

Individualization of long-term enzyme replacement therapy for Gaucher disease.

Andersson HC, Charrow J, Kaplan P, Mistry P, Pastores GM, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ.

Genet Med. 2005 Feb;7 (2) :105-10. PMID: 15714077

29.

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.

Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakash-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymańska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A.

Semin Hematol. 2004 Oct;41 (4 Suppl 5) :15-22. PMID: 15468046

30.

Therapeutic goals in the treatment of Gaucher disease.

Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymańska A.

Semin Hematol. 2004 Oct;41 (4 Suppl 5) :4-14. PMID: 15468045

31.

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.

Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Prakash-Cheng A, Rosenbloom BE, Scott CR, Wappner RS, Weinreb NJ.

J Pediatr. 2004 Jan;144 (1) :112-20. PMID: 14722528

32.

Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1.

Pastores GM, Barnett NL.

Expert Opin Investig Drugs. 2003 Feb;12 (2) :273-81. PMID: 12556220

33.

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.

Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A.

Am J Med. 2002 Aug 1;113 (2) :112-9. PMID: 12133749

34.

Gaucher Disease

Pastores GM, Hughes DA.

. 1993; PMID: 20301446