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Gregory Pastores, M.D.

Publications

Publications

1. Clarke, Lorne A; Wraith, J Edmond; Beck, Michael; Kolodny, Edwin H; Pastores, Gregory M; Muenzer, Joseph; Rapoport, David M; Berger, Kenneth I; Sidman, Marisa; Kakkis, Emil D; Cox, Gerald F. "Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I". Pediatrics. 2009; 123: 229 (#J0160548)
2. Fattal-Valevski A; Dimaio MS; Hisama FM; Hobson GM; Davis-Williams A; Garbern JY; Mahoney MJ; Kolodny EH; Pastores GM. "Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease". Journal of child neurology. 2009; 24: 618 (#J0162143)
3. Guo, Xuemei; Tu, Liyu; Gumper, Iwona; Plesken, Heide; Novak, Edward K; Chintala, Sreenivasulu; Swank, Richard T; Pastores, Gregory; Torres, Paola; Izumi, Tetsuro; Sun, Tung-Tien; Sabatini, David D; Kreibich, Gert. "Involvement of vps33a in the fusion of uroplakin-degrading multivesicular bodies with lysosomes". Traffic. 2009; 10: 1350 (#J0175338)
4. Kishnani, PS; DiRocco, M; Kaplan, P; Mehta, A; Pastores, GM; Smith, SE; Puga, AC; Lemay, RM; Weinreb, NJ. "A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1". Molecular genetics & metabolism. 2009; 96: 164 (#J0165098)
5. Pastores, Gregory M; Giraldo, Pilar; Cherin, Patrick; Mehta, Atul. "Goal-oriented therapy with miglustat in Gaucher disease". Current medical research & opinon. 2009; 25: 23 (#J0163715)
6. Pastores, Gregory M; Hughes, Derralynn A. "To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model [comment]". Kidney international. 2009; 75: 351 (#J0163716)
7. Sathe S; Deperalta E; Pastores G; Kolodny EH. "Acute Confusional Migraine May Be a Presenting Feature of CADASIL". Headache. 2009; 49: 590 (#J0162141)
8. Shapiro, BE; Pastores, GM; Gianutsos, J; Luzy, C; Kolodny, EH. "Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment". Genetics in medicine. 2009; 11: 425 (#J0173829)
9. Shapiro BE; Kolodny EH; Pastores GM; Luzy C. "Re: Neurocognitive testing in late-onset Tay-Sachs disease: A pilot study". Journal of inherited metabolic disease. 2009; 32: 310 (#J0162142)
10. Sidransky, Ellen; Pastores, Gregory M; Mori, Motomi. "Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser?". Genetics in medicine. 2009; 11: 90 (#J0163713)
11. Taddei TH; Kacena KA; Yang M; Yang R; Malhotra A; Boxer M; Aleck KA; Rennert G; Pastores GM; Mistry PK. "The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients". American journal of hematology. 2009; 84: 208 (#J0163714)
12. Whitley, Chester B; Barranger, John A; Eng, Christine M; Davidson, Beverly L; Grabowski, Gregory A; Kohler, Bonnie; Muenzer, Joseph; Murray, Gary J; Pastores, Gregory M; Patel, Sanj K; Shapiro, Elsa G; Steiner, Robert D; Walkley, Steven U; Wedehase, Barbara A; Wilcox, William R. "Lysosomal Disease Network's "WORLD Symposium 2009". Introduction". Molecular genetics & metabolism. 2009; 96: S3 (#J0163717)
13. Cox, TM; Aerts, JMFG; Belmatoug, N; Cappellini, MD; vom Dahl, S; Goldblatt, J; Grabowski, GA; Hollak, CEM; Hwu, P; Maas, M; Martins, AM; Mistry, PK; Pastores, GM; Tylki-Szymanska, A; Yee, J; Weinreb, N. "Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring". Journal of inherited metabolic disease. 2008; 31: 319 (#J0149605)
14. Kolodny, E; Sathe, S; Zeng, BJ; Torres, P; Alroy, J; Pastores, G. "A novel GM2-activator deficiency mutation as a cause of AB variant GM2-gangliosidosis [Abstract]". Molecular genetics & metabolism. 2008; 93: S27 (#J0150746)
15. Kroos MA; Mullaart RA; Van Vliet L; Pomponio RJ; Amartino H; Kolodny EH; Pastores GM; Wevers RA; Van der Ploeg AT; Halley DJ; Reuser AJ. "p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease ?". European journal of human genetics. 2008; 16: 875 (#J0136318)
16. Mehta, Atul; Beck, Michael; Kampmann, Christoph; Frustaci, Andrea; Germain, Dominique P; Pastores, Gregory M; Sunder-Plassmann, Gere. "Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta [letter] [comment]". Molecular genetics & metabolism. 2008; 95: 114 (#J0163719)
17. Pastores, G; Elstein, D; Hrebicek, M; Zimram, A. "Clinical effects of miglustat on bone disease in adult type I Gaucher disease: A meta-analysis [Abstract]". Molecular genetics & metabolism. 2008; 93: S45 (#J0150751)
18. Pastores, Gregory M. "Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I". Expert opinion on biological therapy. 2008; 8: 1003 (#J0144356)
19. Pastores, Gregory M. "Musculoskeletal complications encountered in the lysosomal storage disorders". Bailliere's best practice & research. Clinical rheumatology. 2008; 22: 937 (#J0158483)
20. Pastores G.M.. "Therapeutic options for childhood-onset lysosomal storage disorders". Pediatric Health. 2008; 2: 21 (#J0138855)
21. Pierson, TM; Zeng, BJ; Torres, P; Pastores, G; Finkel, R; Mahuran, D; Kolodny, E; Tennekoon, G. "Novel mutations in juvenile Sandhoff disease presenting as motor neuron disease [Abstract]". Molecular genetics & metabolism. 2008; 93: S33 (#J0150749)
22. Rosales, Xiomara Q; Chu, Mary-Lynn; Shilling, Christopher; Wall, Cheryl; Pastores, Gregory M; Mendell, Jerry R. "Fidelity of gamma-glutamyl transferase (GGT) in differentiating skeletal muscle from liver damage". Journal of child neurology. 2008; 23: 748 (#J0163720)
23. Sathe, S; Basturk, O; Miller, D; Greco, MA; Potaznik, D; Pastores, G; Kolodny, E. "Homozygosity for a tandem mutation (D409H and H255Q) leads to acute neuronopathic Gaucher disease [Abstract]". Molecular genetics & metabolism. 2008; 93: S34 (#J0150750)
24. Shapiro, Barbara E; Logigian, Eric L; Kolodny, Edwin H; Pastores, Gregory M. "Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients". Muscle & nerve. 2008; 38: 1012 (#J0162144)
25. Sims, KB; Pastores, GM; Weinreb, NJ; Barranger, J; Rosenbloom, BE; Packman, S; Kaplan, P; Mankin, H; Xavier, R; Angell, J; Fitzpatrick, MA; Rosenthal, D. "Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study". Clinical genetics. 2008; 73: 430 (#J0167000)
26. Weinreb, Neal J; Deegan, Patrick; Kacena, Katherine A; Mistry, Pramod; Pastores, Gregory M; Velentgas, Priscilla; vom Dahl, Stephan. "Life expectancy in Gaucher disease type 1". American journal of hematology. 2008; 83: 896 (#J0163718)
27. Weinreb, N; Deegan, PB; Kacena, K; Mistry, P; Pastores, GM; Velentgas, P; vom Dahl, S. "LIFE EXPECTANCY IN TYPE 1 (NONNEURONOPATHIC) GAUCHER DISEASE [Abstract]". Clinical therapeutics. 2008; 30: S95 (#J0155776)
28. Wilcox, William R; Oliveira, Joao Paulo; Hopkin, Robert J; Ortiz, Alberto; Banikazemi, Maryam; Feldt-Rasmussen, Ulla; Sims, Katherine; Waldek, Stephen; Pastores, Gregory M; Lee, Philip; Eng, Christine M; Marodi, Laszlo; Stanford, Kevin E; Breunig, Frank; Wanner, Christoph; Warnock, David G; Lemay, Roberta M; Germain, Dominique P. "Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry". Molecular genetics & metabolism. 2008; 93: 112 (#J0163721)
29. Wustman, B; Pine, C; Ranes, B; Flanagan, J; Palling, D; Do, H; Insinga, F; Grabowski, G; Weinreb, N; Pastores, G; Fernhoff, P; Kaplan, P; Lockhart, D. "Pharmacological chaperone therapy for Gaucher disease: Mechanism of action, a survey of responsive mutations and phase I clinical trial results [Abstract]". Molecular genetics & metabolism. 2008; 93: 114 (#J0167012)
30. Zeng, B J; Torres, P A; Viner, T C; Wang, Z H; Raghavan, S S; Alroy, J; Pastores, G M; Kolodny, E H. "Spontaneous appearance of Tay-Sachs disease in an animal model". Molecular genetics & metabolism. 2008; 95: 59 (#J0159376)
31. Clarke, LA; Wraith, JE; Beck, M; Kolodny, EH; Pastores, GM; Muenzers, J. "A phase III extension study of Aldurazyme (R) (Laronidase) in mucopolysaccharidosis I [Abstract]". Clinical therapeutics. 2007; 29: S111 (#J0167080)
32. El Dib, RP; Pastores, GM. "Laronidase for treating mucopolysaccharidosis type I". Genetics & Molecular Research. 2007; 6: 667 (#J0150770)
33. Pastores, Gregory M. "Agalsidase alfa (Replagal) in the treatment of Anderson-Fabry disease". Biologics : targets & therapy. 2007; 1: 291 (#J0175663)
34. Pastores, G; Elstein, D; Hrebicek, M; Zimran, A. "Beneficial effects of miglustat on skeletal symptoms in type I Gaucher disease: A meta-analysis [Abstract]". Molecular genetics & metabolism. 2007; 92: S16 (#J0132893)
35. Pastores, Gregory M; Elstein, Deborah; Hrebicek, Martin; Zimran, Ari. "Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies". Clinical therapeutics. 2007; 29: 1645 (#J0132490)
36. Pastores, Gregory M; Arn, Pamela; Beck, Michael; Clarke, Joe T R; Guffon, Nathalie; Kaplan, Paige; Muenzer, Joseph; Norato, Denise Y J; Shapiro, Elsa; Thomas, Janet; Viskochil, David; Wraith, J Edmond. "The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I". Molecular genetics & metabolism. 2007; 91: 37 (#J0127995)
37. Pastores, G; Boyd, E; Whelan, A. "Safety and pharmacokinetics (PK) of agalsidase alfa (REPLAGAL (R)) in fabry patients on dialysis or post renal transplantation [Abstract]". Nephrology, dialysis, transplantation. 2007; 22: 34 (#J0150743)
38. Pastores, Gregory M; Boyd, Ellen; Crandall, Kerry; Whelan, Alison; Piersall, Linda; Barnett, Natalie. "Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease". Nephrology, dialysis, transplantation. 2007; 22: 1920 (#J0129340)
39. Sathe S; Pastores GM; Kolodny E; DiRocco A. "Phenotypic characterization of parkinsonism in patients with Gaucher Disease [Abstract]". Parkinsonism & related disorders. 2007; 13: S64 (#J0132322)
40. vom Dahl, S; Weinreb, N; Aerts, MFG; Belmatoug, N; Cappellini, MD; Goldblatt, J; Grabowski, GA; Hollak, CEM; Hwu, P; Maas, M; Martins, AM; Mistry, PK; Pastores, GM; Tylki-Szymanska, A; Yee, J; Cox, T. "A benchmark analysis of the achievement of therapeutic goals for patients with type 1 Gaucher disease [Abstract]". Haematologica (Roma). 2007; 92: 274 (#J0127557)
41. vom Dahl, S; Deegan, PB; Kacena, K; Mistry, PK; Pastores, GM; Weinreb, N. "Life expectancy in type 1 (non-neuronopathic) Gaucher disease [Abstract]". Haematologica (Roma). 2007; 92: 410 (#J0127558)
42. Weinreb, N; Barranger, J; Packman, S; Prakash-Cheng, A; Rosenbloom, B; Sims, K; Angell, J; Skrinar, A; Pastores, GM. "Imiglucerase (Cerezyme((R))) improves quality of life in patients with skeletal manifestations of Gaucher disease". Clinical genetics. 2007; 71: 576 (#J0128036)
43. Weinreb, NJ; Grabowski, GA; Pastores, GM; Fernhoff, PM; Kaplan, PB; Palling, D; Pine, CW; Raines, BE; Insinga, F; Lockhart, DJ; Do, HV; Wustman, BA. "Pharmacological chaperone therapy for the treatment of Gaucher disease: Results of phase 1 clinical trials and a clinical ex vivo response study with a survey of blood markers for 53 Gaucher patients [Abstract]". Blood. 2007; 110: 709A (#J0134211)
44. Wenstrup, R; Kaplan, P; Pastores, G; Prakash-Cheng, A; Zimran, A; Hangartner, T. "The effect of enzyme replacement therapy with imiglucerase on bone mineral density in type 1 Gaucher disease [Abstract]". Clinical therapeutics. 2007; 29: S117 (#J0132922)
45. Wenstrup, RJ; Kacena, KA; Kaplan, P; Pastores, GM; Prakash-Cheng, A; Zimran, A; Hangartner, TN. "Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease". Journal of bone & mineral research. 2007; 22: 119 (#J0122736)
46. Zia, A; Kolodny, E H; Pastores, G M. "Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties". Journal of inherited metabolic disease. 2007; 30: 817 (#J0131708)
47. Zimran, A; Kacena, KA; Kaplan, P; Pastores, G; Prakash-Cheng, A; Hangartner, T; Wenstrup, R. "The effect of enzyme replacement therapy with imiglucerase on bone mineral density in type I Gaucher disease [Abstract]". Molecular genetics & metabolism. 2007; 92: S33 (#J0132894)
48. Clarke, LA; Wraith, JE; Beck, M; Kolodny, EH; Pastores, GM; Muenzer, J. "A phase 3 extension study of Aldurazyme (R) (laronidase) in mucopolysaccharidosis I (MPS I) [Abstract]". Journal of inherited metabolic disease. 2006; 29: 28 (#J0131477)
49. Janson CG; Kolodny EH; Zeng BJ; Raghavan S; Pastores G; Torres P; Assadi M; McPhee S; Goldfarb O; Saslow B; Freese A; Wang DJ; Bilaniuk L; Shera D; Leone P. "Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene". Annals of neurology. 2006; 59: 428 (#J0112366)
50. Kolodny, Edwin H; Pastores, Gregory M. "CNS pathology and vascular/circulatory abnormalities in Fabry disease [comment]". Acta paediatrica. Supplement. 2006; 95: 55 (#J0121242)
51. Lyon, Gilles; Kolodny, Edwin H; Pastores, Gregory M. "Neurology of hereditary metabolic diseases of children". New York : McGraw-Hill, 2006. 2006; x, 542 (#B0001839)
52. Mankin, HJ; Trahan, CA; Barnett, NA; Laughead, J; Bove, CM; Pastores, GM. "A questionnaire study for 128 patients with Gaucher disease". Clinical genetics. 2006; 69: 209 (#J0112491)
53. Pastores, Gregory M; Sathe, Swati. "A chaperone-mediated approach to enzyme enhancement as a therapeutic option for the lysosomal storage disorders". Drugs in R&D. 2006; 7: 339 (#J0123514)
54. Pastores, G. "Management of patients with Gaucher's disease: Clinical perspectives". European journal of internal medicine. 2006; 17: S9 (#J0123152)
55. Pastores, Gregory M. "Miglustat: substrate reduction therapy for lysosomal storage disorders associated with primary central nervous system involvement". Recent patents on CNS drug discovery. 2006; 1: 77 (#J0133878)
56. Ries, M; Clarke, JTR; Whybra, C; Timmons, M; Robinson, C; Schlaggar, BL; Pastores, G; Lien, YH; Kampmann, C; Brady, RO; Beck, M; Schiffmann, R. "Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease". Pediatrics. 2006; 118: 924 (#J0166549)
57. Ries, M; Beck, M; Clarke, JTR; Whybra, C; Timmons, M; Robinson, C; Pastores, G; Kampmann, C; Brady, RO; Schiffmann, R. "The safety and clinical benefit of agalsidase alfa in children with Fabry disease [Abstract]". Journal of inherited metabolic disease. 2006; 29: 133 (#J0166494)
58. Zeng, Bai-Jin; Pastores, Gregory M; Leone, Paola; Raghavan, Srinivasa; Wang, Zhao-Hui; Ribeiro, Lucilene A; Torres, Paola; Ong, Elton; Kolodny, Edwin H. "Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease". Advances in experimental medicine & biology. 2006; 576: 165 (#J0119057)
59. Zeng, B J; Wang, Z H; Torres, P A; Pastores, G M; Leone, P; Raghavan, S S; Kolodny, E H. "Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease". Molecular genetics & metabolism. 2006; 89: 156 (#J0121244)
60. Andersson, HC; Charrow, J; Kaplan, P; Mistry, P; Pastores, GM; Prakesh-Cheng, A; Rosenbloom, BE; Scott, CR; Wappner, RS; Weinreb, NJ. "Individualization of long-term enzyme replacement therapy for Gaucher disease". Genetics in medicine. 2005; 7: 105 (#J0078691)
61. Inglese M; Nusbaum AO; Pastores GM; Gianutsos J; Kolodny EH; Gonen O. "MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis". AJNR. American journal of neuroradiology. 2005; 26: 2037 (#J0109986)
62. Neudorfer O; Pastores GM; Zeng BJ; Gianutsos J; Zaroff CM; Kolodny EH. "Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients". Genetics in medicine. 2005; 7: 119 (#J0078107)
63. Pastores GM; Barnett NL. "Current and emerging therapies for the lysosomal storage disorders". Expert opinion on emerging drugs. 2005; 10: 891 (#J0113973)
64. Pastores GM; Meere PA. "Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I) [Review, Tutorial]". Current opinion in rheumatology. 2005; 17: 70 (#J0082029)
65. Pastores GM; Barnett NL; Kolodny EH. "An open-label, noncomparative study of miglustat in type I Gaucher disease: Efficacy and tolerability over 24 months of treatment". Clinical therapeutics. 2005; 27: 1215 (#J0112369)
66. Perez-Calvo, JI; Roca-Espiau, M; Pastores, GM. "Bone crisis in stable Gaucher's disease". QJM : monthly journal of the Association of Physicians. 2005; 98: 916 (#J0108666)
67. Raghavan S; Zeng B; Torres PA; Pastores GM; Kolodny EH; Kurtzberg J; Krivit W. "Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations". Journal of inherited metabolic disease. 2005; 28: 1005 (#J0115621)
68. Wenstrup, R; Kacena, K; Kaplan, P; Pastores, G; Prakash-Cheng, A; Zimran, A; Hangartner, T. "Effect of enzyme replacement therapy on bone mineral density in type 1 Gaucher disease [Abstract]". Blood. 2005; 106: 54B (#J0108791)
69. Wraith, JE; Muenzer, J; Kolodny, EH; Pastores, GM; Beck, M; Clarke, LA. "ALDURAZYME (LARONIDASE) ENZYME REPLACEMENT THERAPY FOR MPS I: 96-WEEK EXTENSION DATA [Abstract]". Journal of inherited metabolic disease. 2005; 28: 182 (#J0173773)
70. Charrow J; Andersson HC; Kaplan P; Kolodny EH; Mistry P; Pastores G; Prakash-Cheng A; Rosenbloom BE; Scott CR; Wappner RS; Weinreb NJ. "Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations". Journal of pediatrics. 2004; 144: 112 (#J0112371)
71. Clarke, LA; Wraith, JE; Beck, M; Kolodny, EH; Pastores, GM; Muenzer, J. "Aldurazyme (laronidase) enzyme replacement therapy for MPS I: 72-week extension data [Abstract]". Molecular genetics & metabolism. 2004; 81: 169 (#J0131492)
72. Kolodny, EH; Neudorfer, O; Gianutsos, J; Zaroff, C; Barnett, N; Zeng, B; Raghavan, S; Torres, P; Pastores, G. "Late-onset Tay-Sachs disease: natural history and treatment with OGT 918 (Zavesca (TM)) [Abstract]". Journal of neurochemistry. 2004; 90: 54 (#J0074512)
73. Krivit, WC; Kurtzberg, J; Zeng, B; Torres, P; Pastores, G; Raghavan, S. "Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations [Abstract]". Journal of neurochemistry. 2004; 90: 95 (#J0074513)
74. Pastores GM. "Agalsidase alfa: Enzyme therapy for Anderson-Fabry disease". Therapy. 2004; 1: 203 (#J0105677)
75. Pastores GM; Weinreb NJ; Aerts H; Andria G; Cox TM; Giralt M; Grabowski GA; Mistry PK; Tylki-Szymanska A. "Therapeutic goals in the treatment of Gaucher disease [Review, Tutorial]". Seminars in hematology. 2004; 41: 4 (#J0082022)
76. 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-Szymanska A; Vellodi A; vom Dahl S; Wappner RS; Zimran A. "Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients". Seminars in hematology. 2004; 41: 15 (#J0112370)
77. Wraith JE; Clarke LA; Beck M; Kolodny EH; Pastores GM; Muenzer J; Rapoport DM; Berger KI; Swiedler SJ; Kakkis ED; Braakman T; Chadbourne E; Walton-Bowen K; Cox GF. "Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)". Journal of pediatrics. 2004; 144: 581 (#J0067844)
78. Zaroff CM; Neudorfer O; Morrison C; Pastores GM; Rubin H; Kolodny EH. "Neuropsychological assessment of patients with late onset GM2 gangliosidosis". Neurology. 2004; 62: 2283 (#J0076262)
79. Bajbouj, M; Beck, M; Wraith, JE; Clarke, LA; Kolodny, EH; Pastores, GM; Muenzer, J. "Effects of Aldurazyme (R) (laronidase) on joint mobility in MPS I [Abstract]". American journal of human genetics. 2003; 73: 621 (#J0131498)
80. Clarke, LA; Wraith, JE; Beck, M; Kolodny, EH; Pastores, GM. "Aldurazyme (R) (laronidase) enzyme replacement therapy for MPS I: 48-week extension data [Abstract]". American journal of human genetics. 2003; 73: 623 (#J0131499)
81. Cox, TM; Aerts, JMFG; Andria, G; Beck, M; Belmatoug, N; Bembi, B; Chertkoff, R; Vom Dahl, S; Elstein, D; Erikson, A; Giralt, M; Heitner, R; Hollak, C; Hrebicek, M; Lewis, S; Mehta, A; Pastores, GM; Rolfs, A; Miranda, MCS; Zimran, A. "The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement". Journal of inherited metabolic disease. 2003; 26: 513 (#J0052446)
82. Kaplan, P; Andersson, HC; Charrow, J; Prakash-Cheng, A; Kolodny, EH; Mistry, P; Pastores, GM; Rosenbloom, B; Scott, CR; Wappner, RS; Weinreb, N. "Demography of untreated Type 1 Gaucher disease (GD1) in children [Abstract]". American journal of human genetics. 2003; 73: 456 (#J0131497)
83. Miller, A; Brown, LK; Pastores, GM; Desnick, RJ. "Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease". Clinical genetics. 2003; 63: 368 (#J0049973)
84. Ong, E; Raghavan, S; Pastores, G; Kolodny, EH. "Glycosphingolipid reduction in fibroblasts of Tay-Sachs disease patients treated with n-butyldeoxynojirimycin". Journal of neurochemistry. 2003; 85: 68 (#J0052505)
85. Pastores, GM; Wraith, JE; Clarke, LA; Beck, M; Kolodny, EH; Muenzer, J; Cox, FG; Skrinar, AM. "The clinical benefit of Aldurazyme (R) (laronidase) for the treatment of MPS I [Abstract]". American journal of human genetics. 2003; 73: 624 (#J0131500)
86. Pastores, GM. "Enzyme therapy for the lysosomal storage disorders: principles, patents, practice and prospects". Expert opinion on therapeutic patents. 2003; 13: 1157 (#J0052370)
87. Pastores GM; Barnett NL; Bathan P; Kolodny EH. "A neurological symptom survey of patients with type I Gaucher disease". Journal of inherited metabolic disease. 2003; 26: 641 (#J0071215)
88. Pastores GM; Barnett NL. "Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1". Expert opinion on investigational drugs. 2003; 12: 273 (#J0053382)
89. Bennett, Robin L; Hart, Kimberly A; O'Rourke, Erin; Barranger, John A; Johnson, Jack; MacDermot, Kay D; Pastores, Gregory M; Steiner, Robert D; Thadhani, Ravi. "Fabry disease in genetic counseling practice: Recommendations of the National Society of Genetic Counselors". Journal of genetic counseling. 2002; 11: 121 (#J0030773)
90. Clarke, LA; Muenzer, J; Kolodny, EH; Pastores, GM; Beck, M; Wraith, JE. "RhIDU enzyme replacement therapy for MPS 1: 24-week extension study [Abstract]". American journal of human genetics. 2002; 71: 581 (#J0131502)
91. Gold, KF; Pastores, GM; Botteman, MF; Yeh, JM; Sweeney, S; Aliski, W; Pashos, CL. "Quality of life of patients with Fabry disease". Quality of life research. 2002; 11: 317 (#J0032132)
92. Kolodny EH; Pastores GM. "Anderson-Fabry disease: extrarenal, neurologic manifestations". Journal of the American Society of Nephrology. 2002; 13 Suppl 2: S150 (#J0053927)
93. Pastores GM; Thadhani R. "Advances in the management of Anderson-Fabry disease: enzyme replacement therapy". Expert opinion on biological therapy. 2002; 2: 325 (#J0053508)
94. Pastores GM; Lien YH. "Biochemical and molecular genetic basis of Fabry disease". Journal of the American Society of Nephrology. 2002; 13 Suppl 2: S130 (#J0053928)
95. Thadhani, R; Wolf, M; West, ML; Tonelli, M; Ruthazer, R; Pastores, GM; Obrador, GT. "Patients with Fabry disease on dialysis in the United States". Kidney international. 2002; 61: 249 (#J0032280)
96. Torralba, MA; Alfonso, P; Perez-Calvo, JI; Cenarro, A; Pastores, GM; Giraldo, P; Civeira, F; Pocovi, M. "High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the Glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients". Blood cells, molecules, & diseases. 2002; 29: 35 (#J0045507)
97. Wang ZH; Ji Y; Shan W; Zeng B; Raksadawan N; Pastores GM; Wisniewski T; Kolodny EH. "Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson's disease". Neuroscience. 2002; 113: 629 (#J0053903)
98. Weinreb NJ; Charrow J; Andersson HC; Kaplan P; Kolodny EH; Mistry P; Pastores G; Rosenbloom BE; Scott CR; Wappner RS; Zimran A. "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". American journal of medicine. 2002; 113: 112 (#J0112373)
99. Weinreb, NJ; Andersson, H; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, PK; Pastores, G; Prakash-Cheng, A; Rosenbloom, BE; Scott, CR; Wappner, RS. "Massive and partially refractory splenomegaly significantly influences the platelet (PLT) response to enzyme replacement therapy (ERT) in thrombocytopenic patients with Gaucher disease (GD): Report from the Gaucher Registry [Abstract]". Blood. 2002; 100: 485A (#J0131501)
100. Zeng BJ; Wang ZH; Ribeiro LA; Leone P; De Gasperi R; Kim SJ; Raghavan S; Ong E; Pastores GM; Kolodny EH. "Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease". Journal of inherited metabolic disease. 2002; 25: 557 (#J0053326)
101. Gupta, MK; Levin, M; Aguilera, NS; Pastores, GM. "Littoral cell angioma of the spleen in a patient with Gaucher disease". American journal of hematology. 2001; 68: 61 (#J0167778)
102. Kaplan, P; Andersson, HC; Charrow, J; Kolodny, EH; Mistry, P; Pastores, GM; Rosenbloom, BE; Scott, CR; Wappner, RS; Weinreb, NJ. "Growth improvement in response to enzyme replacement therapy (ERT) among children with Gaucher disease: The Gaucher Registry [Abstract]". American journal of human genetics. 2001; 69: 674 (#J0131509)
103. Pastores GM; Thadhani R. "Enzyme-replacement therapy for Anderson-Fabry disease". Lancet. 2001; 358: 601 (#J0028951)
104. Rodriguez-Mari, A; Diaz-Font, A; Chabas, A; Pastores, GM; Grinberg, D; Vilageliu, L. "New insights into the origin of the Gaucher disease-causing mutation N370S: Extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms". Blood cells, molecules, & diseases. 2001; 27: 950 (#J0032289)
105. Torralba, M A; Perez-Calvo, J I; Pastores, G M; Cenarro, A; Giraldo, P; Pocovi, M. "Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients". Blood cells, molecules, & diseases. 2001; 27: 489 (#J0138890)
106. Wang ZH; Zeng B; Pastores GM; Raksadawan N; Ong E; Kolodny EH. "Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV". Genetic testing. 2001; 5: 87 (#J0053654)
107. Wang, ZH; Zeng, B; Pastores, GM; Raksadawan, N; Ong, E; Kolodny, EH. "The major mutation in mucolipidosis IV among Ashkenazi Jewish individuals requires further clarification. (vol 5, pg 87, 2001)". Genetic testing. 2001; 5: 273 (#J0131506)
108. Weinreb, NJ; Andersson, HC; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, P; Pastores, G; Rosenbloom, BE; Scott, CR; Wappner, RS. "Clinical factors influencing the achievement of a complete response (CR) after 24 months of enzyme replacement therapy (ERT) in patients with Gaucher disease (GD): The Gaucher Registry [Abstract]". Blood. 2001; 98: 20A (#J0131507)
109. Andersson, H; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, P; Pastores, G; Rosenbloom, BE; Wappner, RS. "The Gaucher Registry: Demographics and disease characteristics and response to enzyme replacement therapy (ERT) for 78 pediatric patients (pts) [Abstract]". Blood. 2000; 96: 8A (#J0131511)
110. Charrow, J; Andersson, H C; Kaplan, P; Kolodny, E H; Mistry, P; Pastores, G; Rosenbloom, B E; Scott, C R; Wappner, R S; Weinreb, N J; Zimran, A. "The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease". Archives of internal medicine. 2000; 160: 2835 (#J0131710)
111. Diaz, A; Montfort, M; Cormand, B; Zeng, BJ; Pastores, GM; Chabas, A; Vilageliu, L; Grinberg, D. "On the age of the most prevalent Gaucher disease-causing mutation, N370S". American journal of human genetics. 2000; 66: 2014 (#J0098013)
112. Pastores GM; Patel MJ; Firooznia H. "Bone and joint complications related to Gaucher disease". Current rheumatology reports. 2000; 2: 175 (#J0034958)
113. Wang ZH; Zeng B; Shibuya H; Johnson GS; Alroy J; Pastores GM; Raghavan S; Kolodny EH. "Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis". Journal of inherited metabolic disease. 2000; 23: 593 (#J0053765)
114. Weinreb, NJ; Andersson, H; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, P; Pastores, G; Rosenbloom, BE; Scott, CR; Wappner, RS. "The Gaucher Registry: Severe bone disease among patients with Gaucher disease in the absence of significant hematologic abnormalities [Abstract]". Blood. 2000; 96: 8A (#J0131512)
115. Charrow, J; Esplin, JA; Kaplan, P; Kolodny, EH; Pastores, GM; Scott, CR; Wappner, RS; Weinreb, NJ; Wisch, JS. "Gaucher disease - In reply". Archives of internal medicine. 1999; 159: 881 (#J0131526)
116. Charrow, J; Esplin, JA; Kaplan, P; Kolodny, EH; Pastores, GM; Scott, CR; Wappner, RS; Weinreb, NJ; Wisch, JS. "Recommendations for diagnosis, evaluation, and monitoring of patients with Gaucher disease - In reply". Archives of internal medicine. 1999; 159: 1255 (#J0131524)
117. Charrow, J; Esplin, J A; Gribble, T J; Kaplan, P; Kolodny, E H; Pastores, G M; Scott, C R; Wappner, R S; Weinreb, N J; Wisch, J S. "Gaucher disease: recommendations on diagnosis, evaluation, and monitoring". Archives of internal medicine. 1998; 158: 1754 (#J0131712)
118. Damiano AM; Pastores GM; Ware JE Jr. "The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study". Quality of life research. 1998; 7: 373 (#J0104679)
119. Pastores, GM; Miller, A. "Pulmonary hypertension in Gaucher's disease". Lancet. 1998; 352: 580 (#J0094109)
120. Pastores GM. "Gaucher's Disease. Pathological features". Bailliere's clinical haematology. 1997; 10: 739 (#J0009681)

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