Gregory M. Pastores, M.D.

Parkinson's disease in patients and obligate carriers of Gaucher disease
Becker, Joanna G; Pastores, Gregory M; Di Rocco, Alessandro; Ferraris, Marissa; Graber, Jerome J; Sathe, Swati
2013 Jan;19(1):129-131, Parkinsonism & related disorders
— id: 207282, year: 2013, vol: 19, page: 129, stat: Journal Article,

Haematological manifestations and complications of Gaucher disease
Hughes, Derralynn A; Pastores, Gregory M
2013 Jan;20(1):41-47, Current opinion in hematology
— id: 208152, year: 2013, vol: 20, page: 41, stat: Journal Article,

A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in patients with Gaucher disease type 1 (ENGAGE): Results after 9 months of treatment
Mistry, Pramod; Lukina, Elena; Ben Dridi, Marie-Francoise; Amato, Dominick; Baris, Hagit; Dasouki, Majed; Ghosn, Marwan; Mehta, Atul; Packman, Seymour; Pastores, Gregory; Petakov, Milan; Peterschmitt, M. Judith
2013 FEB;108(2):S66-S67, Molecular genetics & metabolism
— id: 227282, year: 2013, vol: 108, page: S66, stat: Journal Article,

Plant cell-expressed recombinant glucocerebrosidase: Taliglucerase alfa as therapy for Gaucher disease in adults patients previously treated with imiglucerase: 24-month results
Pastores, Gregory; Shankar, Suma P.; Szer, Jeffrey; Petakov, Milan; Cox, Timothy M.; Giraldo, Pilar; Rosenbaum, Hanna; Amato, Dominick J.; Mengel, Eugen; Chertkoff, Raul; Almon-Brill, Einat; Zimran, Ari
2013 FEB;108(2):S73-S74, Molecular genetics & metabolism
— id: 227162, year: 2013, vol: 108, page: S73, stat: Journal Article,

Juvenile-onset motor neuron disease caused by novel mutations in beta-hexosaminidase
Pierson, Tyler Mark; Torres, Paola A; Zeng, Bei-Jin; Glanzman, Allan M; Adams, David; Finkel, Richard S; Mahuran, Don J; Pastores, Gregory M; Tennekoon, Gihan I; Kolodny, Edwin H
2013 Jan;108(1):65-69, Molecular genetics & metabolism
— id: 216212, year: 2013, vol: 108, page: 65, stat: Journal Article,

Agalsidase alfa in pediatric patients with Fabry disease: A 7-year open-label study
Schiffmann, Raphael; Pastores, Gregory; Peter, Chang; Rick, Martin; Anna, Wijatyk
2013 FEB;108(2):S81-S82, Molecular genetics & metabolism
— id: 227222, year: 2013, vol: 108, page: S81, stat: Journal Article,

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase
Zimran, Ari; Pastores, Gregory M; Tylki-Szymanska, Anna; Hughes, Derralynn A; Elstein, Deborah; Mardach, Rebecca; Eng, Christine; Smith, Laurie; Heisel-Kurth, Margaret; Charrow, Joel; Harmatz, Paul; Fernhoff, Paul; Rhead, William; Longo, Nicola; Giraldo, Pilar; Ruiz, Juan A; Zahrieh, David; Crombez, Eric; Grabowski, Gregory A
2013 Mar;88(3):172-178, American journal of hematology
— id: 249392, year: 2013, vol: 88, page: 172, stat: Journal Article,

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
de Ru, Minke H.; Teunissen, Quirine G. A.; van der Lee, Johanna H.; Beck, Michael; Bodamer, Olaf A.; Clarke, Lorne A.; Hollak, Carla E.; Lin, Shuan-Pei; Rojas, Maria-Veronica Munoz; Pastores, Gregory M.; Raiman, Julian A.; Scarpa, Maurizio; Treacy, Eileen P.; Tylki-Szymanska, Anna; Wraith, J. Edmond; Zeman, Jiri; Wijburg, Frits A.
2012 APR 23;7:-, Orphanet journal of rare diseases
— id: 171521, year: 2012, vol: 7, page: , stat: Journal Article,

Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease
Hughes, DA; Malmenas, M; Deegan, PB; Elliott, PM; Ginsberg, L; Hajioff, D; Ioannidis, AS; Orteu, CH; Ramaswami, U; West, M; Pastores, GM; Jenkinson, C
2012 Mar;49(3):212-220, Journal of medical genetics
— id: 161578, year: 2012, vol: 49, page: 212, stat: Journal Article,

PLANT CELL EXPRESSED RECOMBINANT GLUCOCEREBROSIDASE - TALIGLUCERASE ALFA AS THERAPY FOR GAUCHER DISEASE IN PATIENTS PREVIOUSLY TREATED WITH IMIGLUCERASE
Pastores, G. M.; Szer, J.; Petakov, M.; Cox, T.; Giraldo, P.; Rosenbaum, H.; Amato, D.; Mengel, E.; Chertkoff, R.; Almon-Brill, E.; Zimran, A.
2012 SEP;35 1 1:S100-S100, Journal of inherited metabolic disease
— id: 177759, year: 2012, vol: 35 1 1, page: S100, stat: Journal Article,

Plant cell expressed recombinant glucocerebrosidase-taliglucerase alfa astherapy for gaucherdisease inpatients previously treated with imiglucerase
Pastores, G; Fernhoff, P; Szer, J; Petakov, M; Cox, T; Giraldo, P; Rosenbaum, H; Amato, D; Mengel, E; Chertkoff, R; Almon-Brill, E; Zimran, A
2012 February 2012;105(2):S50-S50, Molecular genetics & metabolism
— id: 164435, year: 2012, vol: 105, page: S50, stat: Journal Article,

Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards
Puckett, R L; Orsini, J J; Pastores, G M; Wang, R Y; Chang, R; Saavedra-Matiz, C A; Torres, P A; Zeng, B; Caggana, M; Lorey, F; Abdenur, J E
2012 Jan;105(1):126-131, Molecular genetics & metabolism
— id: 459562, year: 2012, vol: 105, page: 126, stat: Journal Article,

Longitudinal studies of brain structure and function in MPS disorders: A study of the lysosomal disease network
Shapiro, E; Delaney, K; Nestrasil, I; Ahmed, A; Yund, B; King, K; Whitley, C; Cooksley, R; Clark, L; Raiman, J; Mamak, E; Steiner, R; Harmatz, P; Johnson, J A; Jeremy, R; Berry, G; Waisbren, S; Pastores, G; Fernhoff, P
2012 February 2012;105(2):S57-S57, Molecular genetics & metabolism
— id: 164434, year: 2012, vol: 105, page: S57, stat: Journal Article,

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, Clarence K; Stein, Philip B; Liu, Jun; Wang, Zuoheng; Yang, Ruhua; Cho, Judy H; Gregersen, Peter K; Aerts, Johannes M F G; Zhao, Hongyu; Pastores, Gregory M; Mistry, Pramod K
2012 Apr;87(4):377-383, American journal of hematology
— id: 165439, year: 2012, vol: 87, page: 377, stat: Journal Article,

Gastrointestinal disturbances and their management in miglustat-treated patients
Belmatoug, Nadia; Burlina, Alberto; Giraldo, Pilar; Hendriksz, Chris J; Kuter, David J; Mengel, Eugen; Pastores, Gregory M
2011 Oct;34(5):991-1001, Journal of inherited metabolic disease
— id: 141625, year: 2011, vol: 34, page: 991, stat: Journal Article,

The MPS VI Clinical Surveillance Program: Current status
Hendriksz C.; Giugliani R.; Harmatz P.; Lampe C.; Martins A.; Pastores G.M.; Steiner R.D.; Teles E.L.; Valayannopoulos V.
2011 ;34:S231-S231, Journal of inherited metabolic disease
— id: 136627, year: 2011, vol: 34, page: S231, stat: Journal Article,

Early access experience with VPRIV((R)): recommendations for 'core data' collection
Hughes, Derralynn A; Al-Sayed, Moeen; Belmatoug, Nadia; Bodamer, Olaf; Bottcher, Tobias; Cappellini, Maria; Cohen, Ian J; Eagleton, Terence; Elstein, Deborah; Giraldo, Pilar; Jones, Simon; Kaplinsky, Chaim; Lund, Allan; Machaczka, Maciej; Mengel, Eugen; Pastores, Gregory M; Rosenbaum, Hanna; Sjo, Malvin; Tiling, Nikolaus; Tsaftaridis, Panagiotis; Zimran, Ari; Weinreb, Neal
2011 Aug 15;47(2):140-142, Blood cells, molecules, & diseases
— id: 141626, year: 2011, vol: 47, page: 140, stat: Journal Article,

Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy
Lo, Sarah Michelman; Liu, Jun; Chen, F; Pastores, G M; Knowles, J; Boxer, M; Aleck, Kirk; Mistry, Pramod K
2011 Jun;34(3):643-650, Journal of inherited metabolic disease
— id: 135198, year: 2011, vol: 34, page: 643, stat: Journal Article,

Pulmonary vascular disease in Gaucher disease: Genotype/Phenotype characteristics and long-term outcomes
Lo, Sarah; Liu, Jun; Pastores, Gregory; Knowles, James; Boxer, Michael; Korson, Mark; Alec, Kirk; Mistry, Pramod
2011 FEB ;102(2):S25-S26, Molecular genetics & metabolism
— id: 126441, year: 2011, vol: 102, page: S25, stat: Journal Article,

Velaglucerase alfa as a therapeutic option for Gaucher disease
Pastores G.M.
2011 ;6(1):13-20, Expert Review of Endocrinology & Metabolism
— id: 120667, year: 2011, vol: 6, page: 13, stat: Journal Article,

Report on the safety of velaglucerase alfa enzyme replacement therapy in patients with type 1 Gaucher disease and the transition from clinic to home infusions during treatment protocol HGT-GCB-058
Pastores, G M; Rosenbloom, B E; Weinreb, N J; Goker-Alpan, O; Mardach, R; Lipson, M; Ibrahim, J; Cohn, G M; Zahrieh, D; Mistry, P K
2011 18 Nov 2011;118(21):-, Blood
— id: 169668, year: 2011, vol: 118, page: , stat: Journal Article,

Synovium, synergy and serendipity
Pastores, Gregory M
2011 Oct;34(5):981-982, Journal of inherited metabolic disease
— id: 137437, year: 2011, vol: 34, page: 981, stat: Journal Article,

Plant Cell Expressed Recombinant Glucocerebrosidase - taliglucerase alfa - as Therapy for Gaucher Disease in Patients Previously Treated with imiglucerase
Pastores, Gregory M.; Fernhoff, Paul M.; Szer, Jeffrey; Petakov, Milan; Cox, Timothy M.; Giraldo, Pilar; Rosenbaum, Hanna; Amato, Dominick J.; Mengel, Eugen; Chertkoff, Raul; Almon-Brill, Einat; Zimran, Ari
2011 FEB ;102(2):S33-S33, Molecular genetics & metabolism
— id: 126442, year: 2011, vol: 102, page: S33, stat: Journal Article,

Krabbe disease: Clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards
Puckett, R. L.; Orsini, J. J.; Pastores, G. M.; Saavedra, C. A.; Torres, P. A.; Zeng, B.; Chang, R.; Wang, R. Y.; Caggana, M.; Lorey, F.; Abdenur, J. E.
2011 MAR ;102(3):309-310, Molecular genetics & metabolism
— id: 127193, year: 2011, vol: 102, page: 309, stat: Journal Article,

Longitudinal studies of brain structure and function in MPS disorders: A study of the Lysosomal Disease network
Shapiro, Elsa; Eisengart, Julie; Nestrasil, Igor; Ahmed, Alia; Raiman, Julian; Steiner, Robert; Harmatz, Paul; Berry, Gerald; Pastores, Gregory; Fernhoff, Paul; Viskochil, David; Delaney, Kathleen
2011 FEB ;102(2):S41-S41, Molecular genetics & metabolism
— id: 126443, year: 2011, vol: 102, page: S41, stat: Journal Article,

Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity
Stein, Philip; Yang, Ruhua; Liu, Jun; Pastores, Gregory M; Mistry, Pramod K
2011 Apr;34(2):429-437, Journal of inherited metabolic disease
— id: 134172, year: 2011, vol: 34, page: 429, stat: Journal Article,

Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease
Torralba-Cabeza, Miguel-Angel; Olivera, Susana; Hughes, Derralynn A; Pastores, Gregory M; Mateo, Ramon Nuviala; Perez-Calvo, Juan-Ignacio
2011 Nov;104(3):301-307, Molecular genetics & metabolism
— id: 141624, year: 2011, vol: 104, page: 301, stat: Journal Article,

A novel tool for mapping disease severity and outcomes in patients with Gaucher disease utilising the therapeutic goals
Weinreb, Neal; Belmatoug, Nadia; Bembi, Bruno; Bodamer, Olaf; Cappellini, Maria Domenica; Deegan, Patrick B.; Elstein, Deborah; Faran, Gil; Gilrado, Pilar; Hughes, Derralynn A.; Mengel, Eugen; Pastores, Gregory M.; Zimran, Ari
2011 FEB ;102(2):S46-S46, Molecular genetics & metabolism
— id: 126444, year: 2011, vol: 102, page: S46, stat: Journal Article,

Long-term outcomes of liver transplantation in type 1 Gaucher disease
Ayto, R M; Hughes, D A; Jeevaratnam, P; Rolles, K; Burroughs, A K; Mistry, P K; Mehta, A B; Pastores, G M
2010 Aug;10(8):1934-1939, American journal of transplantation
— id: 133767, year: 2010, vol: 10, page: 1934, stat: Journal Article,

The risk of Parkinson's disease in type 1 Gaucher disease
Bultron, Gilberto; Kacena, Katherine; Pearson, Daniel; Boxer, Michael; Yang, Ruhua; Sathe, Swati; Pastores, Gregory; Mistry, Pramod K
2010 Apr;33(2):167-173, Journal of inherited metabolic disease
— id: 141633, year: 2010, vol: 33, page: 167, stat: Journal Article,

Enzyme replacement therapy for Anderson-Fabry disease
El Dib, Regina P; Pastores, Gregory M
2010 ;(5):CD006663-CD006663, Cochrane database of systematic reviews (Online)
— id: 141631, year: 2010, vol: , page: CD006663, stat: Journal Article,

SAFETY AND EFFICACY OF VELAGLUCERASE ALFA IN PATIENTS WITH GAUCHER DISEASE TYPE 1 PREVIOUSLY TREATED WITH IMIGLUCERA
Grabowski, A.; Pastores, G.; Mardach, R.; Eng, C.; Smith, L.; Fernhoff, P.; Charrow, J.; Heisel-Kurth, M.; Longo, N.; Rhead, W.; Harmatz, P.; Mehta, A.; Giraldo, P.; Tylki-Szymanska, A.; Crombez, E.; Zimran, A.
2010 JUN ;95(8):77-77, Haematologica (Roma)
— id: 112185, year: 2010, vol: 95, page: 77, stat: Journal Article,

The pathophysiology of
Hughes, Derralynn A; Pastores, Gregory M
2010 Dec;160(23-24):594-599, Wiener medizinische Wochenschrift (1946)
— id: 133847, year: 2010, vol: 160, page: 594, stat: Journal Article,

Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature
Lidove, Olivier; West, Michael L; Pintos-Morell, Guillem; Reisin, Ricardo; Nicholls, Kathy; Figuera, Luis E; Parini, Rossella; Carvalho, Luiz R; Kampmann, Christoph; Pastores, Gregory M; Mehta, Atul
2010 Nov;12(11):668-679, Genetics in medicine
— id: 138025, year: 2010, vol: 12, page: 668, stat: Journal Article,

Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype
Lo, Sarah M; Stein, Philip; Mullaly, Sean; Bar, Michael; Jain, Dhanpat; Pastores, Gregory M; Mistry, Pramod K
2010 May;85(5):340-345, American journal of hematology
— id: 141632, year: 2010, vol: 85, page: 340, stat: Journal Article,

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1
Lukina, Elena; Watman, Nora; Arreguin, Elsa Avila; Banikazemi, Maryam; Dragosky, Marta; Iastrebner, Marcelo; Rosenbaum, Hanna; Phillips, Mici; Pastores, Gregory M; Rosenthal, Daniel I; Kaper, Mathilde; Singh, Tejdip; Puga, Ana Cristina; Bonate, Peter L; Peterschmitt, M Judith
2010 Aug 12;116(6):893-899, Blood
— id: 141629, year: 2010, vol: 116, page: 893, stat: Journal Article,

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, Elena; Watman, Nora; Arreguin, Elsa Avila; Dragosky, Marta; Iastrebner, Marcelo; Rosenbaum, Hanna; Phillips, Mici; Pastores, Gregory M; Kamath, Ravi S; Rosenthal, Daniel I; Kaper, Mathilde; Singh, Tejdip; Puga, Ana Cristina; Peterschmitt, M Judith
2010 Nov 18;116(20):4095-4098, Blood
— id: 141628, year: 2010, vol: 116, page: 4095, stat: Journal Article,

Therapeutic goals in the treatment of Fabry disease
Mehta, Atul; West, Michael L; Pintos-Morell, Guillem; Reisin, Ricardo; Nicholls, Kathy; Figuera, Luis E; Parini, Rossella; Carvalho, Luiz R; Kampmann, Christoph; Pastores, Gregory M; Lidove, Olivier
2010 Nov;12(11):713-720, Genetics in medicine
— id: 138026, year: 2010, vol: 12, page: 713, stat: Journal Article,

Galsulfase: Enzyme therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
Pastores G.M.
2010 ;4(1):17-24, Pediatric Health
— id: 121343, year: 2010, vol: 4, page: 17, stat: Journal Article,

Therapeutic approaches for lysosomal storage diseases
Pastores G.M.
2010 ;1(4):177-188, Therapeutic Advances in Endocrinology & Metabolism
— id: 132901, year: 2010, vol: 1, page: 177, stat: Journal Article,

SAFETY AND EFFICACY OF VELAGLUCERASE ALFA IN PATIENTS WITH TYPE 1 GAUCHER DISEASE PREVIOUSLY TREATED WITH IMIGLUCERA
Pastores, G.; Zimran, A.; Tylki-Szymanska, A.; Mehta, A.; Mardach, R.; Heisel-Kurth, M.; Eng, C.; Smith, L.; Harmatz, P.; Charrow, J.; Zahrieh, D.; Grabowski, G.
2010 AUG ;33(2):S130-S130, Journal of inherited metabolic disease
— id: 116234, year: 2010, vol: 33, page: S130, stat: Journal Article,

Gaucher disease: In need of foster care?
Pastores, G; Fisher, C
2010 FEB ;99(2):S29-S29, Molecular genetics & metabolism
— id: 109683, year: 2010, vol: 99, page: S29, stat: Journal Article,

Lysosomal storage disorders : principles and practice
Pastores, Gregory M
Hackensack NJ : World Scientific, 2010,
— id: 2122, year: 2010, vol: , page: , stat: ,

Leukoencephalopathies and leukodystrophies
Pastores, Gregory M
2010 ;16(2):102- 119, Continuum : lifelong learning in neurology
— id: 110860, year: 2010, vol: 16, page: 102, stat: Journal Article,

Neuropathic Gaucher disease
Pastores, Gregory M
2010 Dec;160(23-24):605-608, Wiener medizinische Wochenschrift (1946)
— id: 121311, year: 2010, vol: 160, page: 605, stat: Journal Article,

Recombinant glucocerebrosidase (imiglucerase) as a therapy for Gaucher disease
Pastores, Gregory M
2010 ;24(1):41-47, Biodrugs
— id: 106203, year: 2010, vol: 24, page: 41, stat: Journal Article,

Velaglucerase alfa, a human recombinant glucocerebrosidase enzyme replacement therapy for type 1 Gaucher disease
Pastores, Gregory M
2010 Apr;11(4):472-478, Current opinion in investigational drugs
— id: 108809, year: 2010, vol: 11, page: 472, stat: Journal Article,

Editorial overview: lysosomal storage disorders with primary neurological involvement
Pastores, Gregory M; Hughes, Derralynn A
2010 Aug;33(4):311-312, Journal of inherited metabolic disease
— id: 110874, year: 2010, vol: 33, page: 311, stat: Journal Article,

Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization
Saunders-Pullman, Rachel; Hagenah, Johann; Dhawan, Vijay; Stanley, Kaili; Pastores, Gregory; Sathe, Swati; Tagliati, Michele; Condefer, Kelly; Palmese, Christina; Bruggemann, Norbert; Klein, Christine; Roe, Am; Kornreich, Ruth; Ozelius, Laurie; Bressman, Susan
2010 Jul 30;25(10):1364-1372, Movement disorders
— id: 133771, year: 2010, vol: 25, page: 1364, stat: Journal Article,

Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease
Schiffmann, Raphael; Martin, Rick A; Reimschisel, Tyler; Johnson, Karen; Castaneda, Victoria; Lien, Y Howard; Pastores, Gregory M; Kampmann, Christoph; Ries, Markus; Clarke, Joe T R
2010 May;156(5):835-844, Journal of pediatrics
— id: 109084, year: 2010, vol: 156, page: 835, stat: Journal Article,

Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy
Stein, Philip; Malhotra, Advitya; Haims, Andrew; Pastores, Gregory M; Mistry, Pramod K
2010 Dec;33(6):769-774, Journal of inherited metabolic disease
— id: 141627, year: 2010, vol: 33, page: 769, stat: Journal Article,

High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease
Taddei, Tamar H; Dziura, James; Chen, Shu; Yang, Ruhua; Hyogo, Hideyuki; Sullards, Cameron; Cohen, David E; Pastores, Gregory; Mistry, Pramod K
2010 Jun;33(3):291-300, Journal of inherited metabolic disease
— id: 141630, year: 2010, vol: 33, page: 291, stat: Journal Article,

Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient
Artigalas, Osvaldo Alfonso; da Silva, Luiz Roberto; Burin, Maira; Pastores, Gregory M; Zeng, Bai; Macedo, Nivea; Schwartz, Ida Vanessa Doederlein
2009 Sep;24(3):493-500, Metabolic brain disease
— id: 109087, year: 2009, vol: 24, page: 493, stat: Journal Article,

Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis
Cimaz, Rolando; Coppa, Giovanni Valentino; Kone-Paut, Isabelle; Link, Bianca; Pastores, Gregory M; Elorduy, Maria Rua; Spencer, Charles; Thorne, Carter; Wulffraat, Nico; Manger, Bernhard
2009 ;7:18-18, Pediatric rheumatology online journal
— id: 109085, year: 2009, vol: 7, page: 18, stat: Journal Article,

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I
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
2009 Jan;123(1):229-240, Pediatrics
— id: 94365, year: 2009, vol: 123, page: 229, stat: Journal Article,

A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase
El Dib, Regina P; Pastores, Gregory M
2009 ;3:459-468, Biologics : targets & therapy
— id: 109086, year: 2009, vol: 3, page: 459, stat: Journal Article,

Variable Expression of a Novel PLP1 Mutation in Members of a Family With Pelizaeus-Merzbacher Disease
Fattal-Valevski, Aviva; DiMaio, Miriam S; Hisama, Fuki M; Hobson, Grace M; Davis-Williams, Angelique; Garbern, James Y; Mahoney, Maurice J; Kolodny, Edwin H; Pastores, Gregory M
2009 May;24(5):618-624, Journal of child neurology
— id: 95738, year: 2009, vol: 24, page: 618, stat: Journal Article,

Involvement of vps33a in the fusion of uroplakin-degrading multivesicular bodies with lysosomes
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
2009 Sep;10(9):1350-1361, Traffic
— id: 101636, year: 2009, vol: 10, page: 1350, stat: Journal Article,

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
Kishnani, P S; DiRocco, M; Kaplan, P; Mehta, A; Pastores, G M; Smith, S E; Puga, A C; Lemay, R M; Weinreb, N J
2009 Apr;96(4):164-170, Molecular genetics & metabolism
— id: 109089, year: 2009, vol: 96, page: 164, stat: Journal Article,

Enzyme-replacement therapy for Pompe disease
Pastores G.M.; Hughes D.A.
2009 ;3(1):41-49, Pediatric Health
— id: 105318, year: 2009, vol: 3, page: 41, stat: Journal Article,

Krabbe disease: an overview
Pastores, G M
2009 ;47 Suppl 1:S75-S81, International journal of clinical pharmacology & therapeutics
— id: 106369, year: 2009, vol: 47 Suppl 1, page: S75, stat: Journal Article,

Goal-oriented therapy with miglustat in Gaucher disease
Pastores, Gregory M; Giraldo, Pilar; Cherin, Patrick; Mehta, Atul
2009 Jan;25(1):23-37, Current medical research & opinon
— id: 96991, year: 2009, vol: 25, page: 23, stat: Journal Article,

To see a world in a grain of sand: elucidating the pathophysiology of Anderson-Fabry disease through investigations of a cellular model
Pastores, Gregory M; Hughes, Derralynn A
2009 Feb;75(4):351-353, Kidney international
— id: 96992, year: 2009, vol: 75, page: 351, stat: Journal Article,

Genz-112638 for Gaucher Disease Type 1: Phase 2 Clinical Trial Results After 18 Months of Treatment
Peterschmitt, J; Lukina, E; Watman, NP; Arreguin, EA; Banikazemi, M; Pastores, G; Iastrebner, M; Dragosky, M; Rosenbaum, H; Phillips, M; Kaper, M; Singh, T; Puga, AC
2009 NOV 20 ;114(22):550-550, Blood
— id: 109977, year: 2009, vol: 114, page: 550, stat: Journal Article,

Acute Confusional Migraine May Be a Presenting Feature of CADASIL
Sathe, Swati; DePeralta, Edgar; Pastores, Gregory; Kolodny, Edwin H
2009 Apr;49(4):590-596, Headache
— id: 95736, year: 2009, vol: 49, page: 590, stat: Journal Article,

Re: Neurocognitive testing in late-onset Tay-Sachs disease: A pilot study
Shapiro, Barbara E; Kolodny, Edwin H; Pastores, Gregory M; Luzy, Cecile
2009 Apr;32(2):310-311, Journal of inherited metabolic disease
— id: 95737, year: 2009, vol: 32, page: 310, stat: Journal Article,

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment
Shapiro, Barbara E; Pastores, Gregory M; Gianutsos, John; Luzy, Cecile; Kolodny, Edwin H
2009 Jun;11(6):425-433, Genetics in medicine
— id: 109088, year: 2009, vol: 11, page: 425, stat: Journal Article,

Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser?
Sidransky, Ellen; Pastores, Gregory M; Mori, Motomi
2009 Feb;11(2):90-91, Genetics in medicine
— id: 96989, year: 2009, vol: 11, page: 90, stat: Journal Article,

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
Taddei, Tamar H; Kacena, Katherine A; Yang, Mei; Yang, Ruhua; Malhotra, Advitya; Boxer, Michael; Aleck, Kirk A; Rennert, Gadi; Pastores, Gregory M; Mistry, Pramod K
2009 Apr;84(4):208-214, American journal of hematology
— id: 96990, year: 2009, vol: 84, page: 208, stat: Journal Article,

Lysosomal Disease Network's "WORLD Symposium 2009". Introduction
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
2009 Feb;96(2):S3-S5, Molecular genetics & metabolism
— id: 96993, year: 2009, vol: 96, page: S3, stat: Journal Article,

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
Cox, T M; Aerts, J M F G; Belmatoug, N; Cappellini, M D; vom Dahl, S; Goldblatt, J; Grabowski, G A; Hollak, C E M; Hwu, P; Maas, M; Martins, A M; Mistry, P K; Pastores, G M; Tylki-Szymanska, A; Yee, J; Weinreb, N
2008 Jun;31(3):319-336, Journal of inherited metabolic disease
— id: 109090, year: 2008, vol: 31, page: 319, stat: Journal Article,

A novel GM2-activator deficiency mutation as a cause of AB variant GM2-gangliosidosis
Kolodny, E; Sathe, S; Zeng, BJ; Torres, P; Alroy, J; Pastores, G
2008 FEB ;93(2):S27-S28, Molecular genetics & metabolism
— id: 87125, year: 2008, vol: 93, page: S27, stat: Journal Article,

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease ?
Kroos, Marian A; Mullaart, Reinier A; Van Vliet, Laura; Pomponio, Robert J; Amartino, Hernan; Kolodny, Edwin H; Pastores, Gregory M; Wevers, Ron A; Van der Ploeg, Ans T; Halley, Dicky J J; Reuser, Arnold J J
2008 Aug;16(8):875-879, European journal of human genetics
— id: 77799, year: 2008, vol: 16, page: 875, stat: Journal Article,

Enzyme replacement therapy in Fabry disease: comparison of agalsidase alfa and agalsidase beta
Mehta, Atul; Beck, Michael; Kampmann, Christoph; Frustaci, Andrea; Germain, Dominique P; Pastores, Gregory M; Sunder-Plassmann, Gere
2008 Sep-Oct;95(1-2):114-115, Molecular genetics & metabolism
— id: 96995, year: 2008, vol: 95, page: 114, stat: Journal Article,

Therapeutic options for childhood-onset lysosomal storage disorders
Pastores G.M.
2008 ;2(1):21-32, Pediatric Health
— id: 79361, year: 2008, vol: 2, page: 21, stat: Journal Article,

Clinical effects of miglustat on bone disease in adult type I Gaucher disease: A meta-analysis
Pastores, G; Elstein, D; Hrebicek, M; Zimram, A
2008 FEB ;93(2):S45-S46, Molecular genetics & metabolism
— id: 87130, year: 2008, vol: 93, page: S45, stat: Journal Article,

Towards relief from bone pain : understanding bone manifestations in Gaucher disease
Pastores, Gregory M
High Wycombe : Alpha-Plus Medical Communications, 2008,
— id: 2123, year: 2008, vol: , page: , stat: ,

Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I
Pastores, Gregory M
2008 Jul;8(7):1003-1009, Expert opinion on biological therapy
— id: 83103, year: 2008, vol: 8, page: 1003, stat: Journal Article,

Musculoskeletal complications encountered in the lysosomal storage disorders
Pastores, Gregory M
2008 Oct;22(5):937-947, Bailliere's best practice & research. Clinical rheumatology
— id: 92684, year: 2008, vol: 22, page: 937, stat: Journal Article,

Novel mutations in juvenile Sandhoff disease presenting as motor neuron disease
Pierson, TM; Zeng, BJ; Torres, P; Pastores, G; Finkel, R; Mahuran, D; Kolodny, E; Tennekoon, G
2008 FEB ;93(2):S33-S33, Molecular genetics & metabolism
— id: 87128, year: 2008, vol: 93, page: S33, stat: Journal Article,

Fidelity of gamma-glutamyl transferase (GGT) in differentiating skeletal muscle from liver damage
Rosales, Xiomara Q; Chu, Mary-Lynn; Shilling, Christopher; Wall, Cheryl; Pastores, Gregory M; Mendell, Jerry R
2008 Jul;23(7):748-751, Journal of child neurology
— id: 96996, year: 2008, vol: 23, page: 748, stat: Journal Article,

Homozygosity for a tandem mutation (D409H and H255Q) leads to acute neuronopathic Gaucher disease
Sathe, S; Basturk, O; Miller, D; Greco, MA; Potaznik, D; Pastores, G; Kolodny, E
2008 FEB ;93(2):S34-S35, Molecular genetics & metabolism
— id: 87129, year: 2008, vol: 93, page: S34, stat: Journal Article,

Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients
Shapiro, Barbara E; Logigian, Eric L; Kolodny, Edwin H; Pastores, Gregory M
2008 Aug;38(2):1012-1015, Muscle & nerve
— id: 95739, year: 2008, vol: 38, page: 1012, stat: Journal Article,

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
Sims, K B; Pastores, G M; Weinreb, N J; Barranger, J; Rosenbloom, B E; Packman, S; Kaplan, P; Mankin, H; Xavier, R; Angell, J; Fitzpatrick, M A; Rosenthal, D
2008 May;73(5):430-440, Clinical genetics
— id: 109091, year: 2008, vol: 73, page: 430, stat: Journal Article,

LIFE EXPECTANCY IN TYPE 1 (NONNEURONOPATHIC) GAUCHER DISEASE
Weinreb, N; Deegan, PB; Kacena, K; Mistry, P; Pastores, GM; Velentgas, P; vom Dahl, S
2008 OCT ;30(10):S95-S95, Clinical therapeutics
— id: 90778, year: 2008, vol: 30, page: S95, stat: Journal Article,

Life expectancy in Gaucher disease type 1
Weinreb, Neal J; Deegan, Patrick; Kacena, Katherine A; Mistry, Pramod; Pastores, Gregory M; Velentgas, Priscilla; vom Dahl, Stephan
2008 Dec;83(12):896-900, American journal of hematology
— id: 96994, year: 2008, vol: 83, page: 896, stat: Journal Article,

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry
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
2008 Feb;93(2):112-128, Molecular genetics & metabolism
— id: 96997, year: 2008, vol: 93, page: 112, stat: Journal Article,

Pharmacological chaperone therapy for Gaucher disease: Mechanism of action, a survey of responsive mutations and phase I clinical trial results
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
2008 FEB ;93(2):114-236, Molecular genetics & metabolism
— id: 98142, year: 2008, vol: 93, page: 114, stat: Journal Article,

Spontaneous appearance of Tay-Sachs disease in an animal model
Zeng, B J; Torres, P A; Viner, T C; Wang, Z H; Raghavan, S S; Alroy, J; Pastores, G M; Kolodny, E H
2008 Sep-Oct;95(1-2):59-65, Molecular genetics & metabolism
— id: 93349, year: 2008, vol: 95, page: 59, stat: Journal Article,

A phase III extension study of Aldurazyme (R) (Laronidase) in mucopolysaccharidosis I
Clarke, LA; Wraith, JE; Beck, M; Kolodny, EH; Pastores, GM; Muenzers, J
2007 DEC ;29(6):S111-S111, Clinical therapeutics
— id: 98159, year: 2007, vol: 29, page: S111, stat: Journal Article,

Laronidase for treating mucopolysaccharidosis type I
El Dib, R P; Pastores, G M
2007 ;6(3):667-674, Genetics & Molecular Research
— id: 109092, year: 2007, vol: 6, page: 667, stat: Journal Article,

Safety and pharmacokinetics (PK) of agalsidase alfa (REPLAGAL (R)) in fabry patients on dialysis or post renal transplantation
Pastores, G; Boyd, E; Whelan, A
2007 NOV ;22(11):34-35, Nephrology, dialysis, transplantation
— id: 87122, year: 2007, vol: 22, page: 34, stat: Journal Article,

Beneficial effects of miglustat on skeletal symptoms in type I Gaucher disease: A meta-analysis
Pastores, G; Elstein, D; Hrebicek, M; Zimran, A
2007 DEC ;92(4):S16-S17, Molecular genetics & metabolism
— id: 75631, year: 2007, vol: 92, page: S16, stat: Journal Article,

Agalsidase alfa (Replagal) in the treatment of Anderson-Fabry disease
Pastores, Gregory M
2007 Sep;1(3):291-300, Biologics : targets & therapy
— id: 101901, year: 2007, vol: 1, page: 291, stat: Journal Article,

The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I
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
2007 May;91(1):37-47, Molecular genetics & metabolism
— id: 73231, year: 2007, vol: 91, page: 37, stat: Journal Article,

Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease
Pastores, Gregory M; Boyd, Ellen; Crandall, Kerry; Whelan, Alison; Piersall, Linda; Barnett, Natalie
2007 Jul;22(7):1920-1925, Nephrology, dialysis, transplantation
— id: 73879, year: 2007, vol: 22, page: 1920, stat: Journal Article,

Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies
Pastores, Gregory M; Elstein, Deborah; Hrebicek, Martin; Zimran, Ari
2007 Aug;29(8):1645-1654, Clinical therapeutics
— id: 75389, year: 2007, vol: 29, page: 1645, stat: Journal Article,

Phenotypic characterization of parkinsonism in patients with Gaucher Disease
Sathe S; Pastores GM; Kolodny E; DiRocco A
2007 ;13(Suppl 2):S64-S64 A1.216, Parkinsonism & related disorders
— id: 75296, year: 2007, vol: 13, page: S64, stat: Journal Article,

Life expectancy in type 1 (non-neuronopathic) Gaucher disease
vom Dahl, S; Deegan, PB; Kacena, K; Mistry, PK; Pastores, GM; Weinreb, N
2007 JUN ;92(6):410-410, Haematologica (Roma)
— id: 73043, year: 2007, vol: 92, page: 410, stat: Journal Article,

A benchmark analysis of the achievement of therapeutic goals for patients with type 1 Gaucher disease
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
2007 JUN ;92(6):274-274, Haematologica (Roma)
— id: 73042, year: 2007, vol: 92, page: 274, stat: Journal Article,

Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease
Weinreb, N; Barranger, J; Packman, S; Prakash-Cheng, A; Rosenbloom, B; Sims, K; Angell, J; Skrinar, A; Pastores, G M
2007 Jun;71(6):576-588, Clinical genetics
— id: 109093, year: 2007, vol: 71, page: 576, stat: Journal Article,

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
Weinreb, NJ; Grabowski, GA; Pastores, GM; Fernhoff, PM; Kaplan, PB; Palling, D; Pine, CW; Raines, BE; Insinga, F; Lockhart, DJ; Do, HV; Wustman, BA
2007 NOV 16 ;110(11):709A-710A, Blood
— id: 76184, year: 2007, vol: 110, page: 709A, stat: Journal Article,

The effect of enzyme replacement therapy with imiglucerase on bone mineral density in type 1 Gaucher disease
Wenstrup, R; Kaplan, P; Pastores, G; Prakash-Cheng, A; Zimran, A; Hangartner, T
2007 JAN ;29(1):S117-S117, Clinical therapeutics
— id: 75634, year: 2007, vol: 29, page: S117, stat: Journal Article,

Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease
Wenstrup, Richard J; Kacena, Katherine A; Kaplan, Paige; Pastores, Gregory M; Prakash-Cheng, Ainu; Zimran, Ari; Hangartner, Thomas N
2007 Jan;22(1):119-126, Journal of bone & mineral research
— id: 109094, year: 2007, vol: 22, page: 119, stat: Journal Article,

Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties
Zia, A; Kolodny, E H; Pastores, G M
2007 Oct;30(5):817-817, Journal of inherited metabolic disease
— id: 75013, year: 2007, vol: 30, page: 817, stat: Journal Article,

The effect of enzyme replacement therapy with imiglucerase on bone mineral density in type I Gaucher disease
Zimran, A; Kacena, KA; Kaplan, P; Pastores, G; Prakash-Cheng, A; Hangartner, T; Wenstrup, R
2007 DEC ;92(4):S33-S33, Molecular genetics & metabolism
— id: 75632, year: 2007, vol: 92, page: S33, stat: Journal Article,

A phase 3 extension study of Aldurazyme (R) (laronidase) in mucopolysaccharidosis I (MPS I)
Clarke, LA; Wraith, JE; Beck, M; Kolodny, EH; Pastores, GM; Muenzer, J
2006 AUG ;29(5):28-28, Journal of inherited metabolic disease
— id: 74922, year: 2006, vol: 29, page: 28, stat: Journal Article,

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement
Eng, Christine M; Germain, Dominique P; Banikazemi, Maryam; Warnock, David G; Wanner, Christoph; Hopkin, Robert J; Bultas, Jan; Lee, Philip; Sims, Katherine; Brodie, Scott E; Pastores, Gregory M; Strotmann, Joerg M; Wilcox, William R
2006 Sep;8(9):539-548, Genetics in medicine
— id: 109095, year: 2006, vol: 8, page: 539, stat: Journal Article,

Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene
Janson, Christopher G; Kolodny, Edwin H; Zeng, Bai-Jin; Raghavan, Srinivasa; Pastores, Gregory; Torres, Paola; Assadi, Mitra; McPhee, Scott; Goldfarb, Olga; Saslow, Beth; Freese, Andrew; Wang, D J; Bilaniuk, Larissa; Shera, David; Leone, Paola
2006 Feb;59(2):428-431, Annals of neurology
— id: 62683, year: 2006, vol: 59, page: 428, stat: Journal Article,

CNS pathology and vascular/circulatory abnormalities in Fabry disease
Kolodny, Edwin H; Pastores, Gregory M
2006 Apr;95(451):55-56, Acta paediatrica. Supplement
— id: 69022, year: 2006, vol: 95, page: 55, stat: Journal Article,

Neurology of hereditary metabolic diseases of children
Lyon, Gilles; Kolodny, Edwin H; Pastores, Gregory M
New York : McGraw-Hill, 2006,
— id: 1362, year: 2006, vol: , page: , stat: ,

A questionnaire study for 128 patients with Gaucher disease
Mankin, H J; Trahan, C A; Barnett, N A; Laughead, J; Bove, C M; Pastores, G M
2006 Mar;69(3):209-217, Clinical genetics
— id: 109096, year: 2006, vol: 69, page: 209, stat: Journal Article,

Management of patients with Gaucher's disease: Clinical perspectives
Pastores, Gregory
2006 Nov;17 Suppl:S9-S12, European journal of internal medicine
— id: 105897, year: 2006, vol: 17 Suppl, page: S9, stat: Journal Article,

Miglustat: substrate reduction therapy for lysosomal storage disorders associated with primary central nervous system involvement
Pastores, Gregory M
2006 Jan;1(1):77-82, Recent patents on CNS drug discovery
— id: 76091, year: 2006, vol: 1, page: 77, stat: Journal Article,

A chaperone-mediated approach to enzyme enhancement as a therapeutic option for the lysosomal storage disorders
Pastores, Gregory M; Sathe, Swati
2006 ;7(6):339-348, Drugs in R&D
— id: 70306, year: 2006, vol: 7, page: 339, stat: Journal Article,

The safety and clinical benefit of agalsidase alfa in children with Fabry disease
Ries, M; Beck, M; Clarke, JTR; Whybra, C; Timmons, M; Robinson, C; Pastores, G; Kampmann, C; Brady, RO; Schiffmann, R
2006 AUG ;29(1):133-133, Journal of inherited metabolic disease
— id: 98061, year: 2006, vol: 29, page: 133, stat: Journal Article,

Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease
Ries, Markus; Clarke, Joe T R; Whybra, Catharina; Timmons, Margaret; Robinson, Chevalia; Schlaggar, Bradley L; Pastores, Gregory; Lien, Y Howard; Kampmann, Christoph; Brady, Roscoe O; Beck, Michael; Schiffmann, Raphael
2006 Sep;118(3):924-932, Pediatrics
— id: 141634, year: 2006, vol: 118, page: 924, stat: Journal Article,

Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease
Zeng, B J; Wang, Z H; Torres, P A; Pastores, G M; Leone, P; Raghavan, S S; Kolodny, E H
2006 Sep-Oct;89(1-2):156-163, Molecular genetics & metabolism
— id: 69024, year: 2006, vol: 89, page: 156, stat: Journal Article,

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease
Zeng, Bai-Jin; Pastores, Gregory M; Leone, Paola; Raghavan, Srinivasa; Wang, Zhao-Hui; Ribeiro, Lucilene A; Torres, Paola; Ong, Elton; Kolodny, Edwin H
2006 ;576:165-73; discussion 361, Advances in experimental medicine & biology
— id: 67534, year: 2006, vol: 576, page: 165, stat: Journal Article,

Individualization of long-term enzyme replacement therapy for Gaucher disease
Andersson, Hans C; Charrow, Joel; Kaplan, Paige; Mistry, Pramod; Pastores, Gregory M; Prakash-Cheng, Ainu; Rosenbloom, Barry E; Scott, C Ronald; Wappner, Rebecca S; Weinreb, Neal J
2005 Feb;7(2):105-110, Genetics in medicine
— id: 109099, year: 2005, vol: 7, page: 105, stat: Journal Article,

MR imaging and proton spectroscopy of neuronal injury in late-onset GM2 gangliosidosis
Inglese, Matilde; Nusbaum, Annette O; Pastores, Gregory M; Gianutsos, John; Kolodny, Edwin H; Gonen, Oded
2005 Sep;26(8):2037-2042, AJNR. American journal of neuroradiology
— id: 61242, year: 2005, vol: 26, page: 2037, stat: Journal Article,

Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients
Neudorfer, Orit; Pastores, Gregory M; Zeng, Bai J; Gianutsos, John; Zaroff, Charles M; Kolodny, Edwin H
2005 Feb;7(2):119-123, Genetics in medicine
— id: 48748, year: 2005, vol: 7, page: 119, stat: Journal Article,

Current and emerging therapies for the lysosomal storage disorders
Pastores, Gregory M; Barnett, Natalie L
2005 Nov;10(4):891-902, Expert opinion on emerging drugs
— id: 63800, year: 2005, vol: 10, page: 891, stat: Journal Article,

An open-label, noncomparative study of miglustat in type I Gaucher disease: Efficacy and tolerability over 24 months of treatment
Pastores, Gregory M; Barnett, Natalie L; Kolodny, Edwin H
2005 Aug;27(8):1215-1227, Clinical therapeutics
— id: 62686, year: 2005, vol: 27, page: 1215, stat: Journal Article,

Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I) [Review, Tutorial]
Pastores, Gregory M; Meere, Patrick A
2005 Jan;17(1):70-78, Current opinion in rheumatology
— id: 50284, year: 2005, vol: 17, page: 70, stat: Journal Article,

Bone crisis in stable Gaucher's disease
Perez-Calvo, J I; Roca-Espiau, M; Pastores, G M
2005 Dec;98(12):916-918, QJM : monthly journal of the Association of Physicians
— id: 109097, year: 2005, vol: 98, page: 916, stat: Journal Article,

Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations
Raghavan, S; Zeng, B; Torres, P A; Pastores, G M; Kolodny, E H; Kurtzberg, J; Krivit, W
2005 ;28(6):1005-1009, Journal of inherited metabolic disease
— id: 64662, year: 2005, vol: 28, page: 1005, stat: Journal Article,

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease
Schafer, Ellen; Baron, Karin; Widmer, Urs; Deegan, Patrick; Neumann, Hartmut P H; Sunder-Plassmann, Gere; Johansson, Jan-Ove; Whybra, Catharina; Ries, Markus; Pastores, Gregory M; Mehta, Atul; Beck, Michael; Gal, Andreas
2005 Apr;25(4):412-412, Human mutation
— id: 109098, year: 2005, vol: 25, page: 412, stat: Journal Article,

Effect of enzyme replacement therapy on bone mineral density in type 1 Gaucher disease
Wenstrup, R; Kacena, K; Kaplan, P; Pastores, G; Prakash-Cheng, A; Zimran, A; Hangartner, T
2005 NOV 16 ;106(11):54B-54B, Blood
— id: 60236, year: 2005, vol: 106, page: 54B, stat: Journal Article,

ALDURAZYME (LARONIDASE) ENZYME REPLACEMENT THERAPY FOR MPS I: 96-WEEK EXTENSION DATA
Wraith, JE; Muenzer, J; Kolodny, EH; Pastores, GM; Beck, M; Clarke, LA
2005 JUL ;28(6):182-182, Journal of inherited metabolic disease
— id: 100634, year: 2005, vol: 28, page: 182, stat: Journal Article,

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations
Charrow, Joel; Andersson, Hans C; Kaplan, Paige; Kolodny, Edwin H; Mistry, Pramod; Pastores, Gregory; Prakash-Cheng, Ainu; Rosenbloom, Barry E; Scott, C Ronald; Wappner, Rebecca S; Weinreb, Neal J
2004 Jan;144(1):112-120, Journal of pediatrics
— id: 62688, year: 2004, vol: 144, page: 112, stat: Journal Article,

Aldurazyme (laronidase) enzyme replacement therapy for MPS I: 72-week extension data
Clarke, LA; Wraith, JE; Beck, M; Kolodny, EH; Pastores, GM; Muenzer, J
2004 MAR ;81(3):169-169, Molecular genetics & metabolism
— id: 74925, year: 2004, vol: 81, page: 169, stat: Journal Article,

Late-onset Tay-Sachs disease: natural history and treatment with OGT 918 (Zavesca (TM))
Kolodny, EH; Neudorfer, O; Gianutsos, J; Zaroff, C; Barnett, N; Zeng, B; Raghavan, S; Torres, P; Pastores, G
2004 AUG ;90(5):54-54, Journal of neurochemistry
— id: 46902, year: 2004, vol: 90, page: 54, stat: Journal Article,

Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations
Krivit, WC; Kurtzberg, J; Zeng, B; Torres, P; Pastores, G; Raghavan, S
2004 AUG ;90(5):95-95, Journal of neurochemistry
— id: 46903, year: 2004, vol: 90, page: 95, stat: Journal Article,

Agalsidase alfa: Enzyme therapy for Anderson-Fabry disease
Pastores GM
2004 ;1(2):203-211, Therapy
— id: 57854, year: 2004, vol: 1, page: 203, stat: Journal Article,

Therapeutic goals in the treatment of Gaucher disease [Review, Tutorial]
Pastores, Gregory M; Weinreb, Neal J; Aerts, Hans; Andria, Generoso; Cox, Timothy M; Giralt, Manuel; Grabowski, Gregory A; Mistry, Pramod K; Tylki-Szymanska, Anna
2004 Oct;41(4 Suppl 5):4-14, Seminars in hematology
— id: 50278, year: 2004, vol: 41, page: 4, stat: Journal Article,

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients
Weinreb, Neal J; Aggio, Mario C; Andersson, Hans C; Andria, Generoso; Charrow, Joel; Clarke, Joe T R; Erikson, Anders; Giraldo, Pilar; Goldblatt, Jack; Hollak, Carla; Ida, Hiroyuki; Kaplan, Paige; Kolodny, Edwin H; Mistry, Pramod; Pastores, Gregory M; Pires, Ricardo; Prakash-Cheng, Ainu; Rosenbloom, Barry E; Scott, C Ronald; Sobreira, Elisa; Tylki-Szymanska, Anna; Vellodi, Ashok; vom Dahl, Stephan; Wappner, Rebecca S; Zimran, Ari
2004 Oct;41(4 Suppl 5):15-22, Seminars in hematology
— id: 62687, year: 2004, vol: 41, page: 15, stat: Journal Article,

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase)
Wraith, James E; Clarke, Lorne A; Beck, Michael; Kolodny, Edwin H; Pastores, Gregory M; Muenzer, Joseph; Rapoport, David M; Berger, Kenneth I; Swiedler, Stuart J; Kakkis, Emil D; Braakman, Tanja; Chadbourne, Elenie; Walton-Bowen, Karen; Cox, Gerald F
2004 May;144(5):581-588, Journal of pediatrics
— id: 43226, year: 2004, vol: 144, page: 581, stat: Journal Article,

Neuropsychological assessment of patients with late onset GM2 gangliosidosis
Zaroff, C M; Neudorfer, O; Morrison, C; Pastores, G M; Rubin, H; Kolodny, E H
2004 Jun 22;62(12):2283-2286, Neurology
— id: 47856, year: 2004, vol: 62, page: 2283, stat: Journal Article,

Effects of Aldurazyme (R) (laronidase) on joint mobility in MPS I
Bajbouj, M; Beck, M; Wraith, JE; Clarke, LA; Kolodny, EH; Pastores, GM; Muenzer, J
2003 NOV ;73(5):621-621, American journal of human genetics
— id: 74928, year: 2003, vol: 73, page: 621, stat: Journal Article,

Aldurazyme (R) (laronidase) enzyme replacement therapy for MPS I: 48-week extension data
Clarke, LA; Wraith, JE; Beck, M; Kolodny, EH; Pastores, GM
2003 NOV ;73(5):623-623, American journal of human genetics
— id: 74929, year: 2003, vol: 73, page: 623, stat: Journal Article,

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement
Cox, T M; Aerts, J M F G; 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, G M; Rolfs, A; Miranda, M C Sa; Zimran, A
2003 ;26(6):513-526, Journal of inherited metabolic disease
— id: 109100, year: 2003, vol: 26, page: 513, stat: Journal Article,

Demography of untreated Type 1 Gaucher disease (GD1) in children
Kaplan, P; Andersson, HC; Charrow, J; Prakash-Cheng, A; Kolodny, EH; Mistry, P; Pastores, GM; Rosenbloom, B; Scott, CR; Wappner, RS; Weinreb, N
2003 NOV ;73(5):456-456, American journal of human genetics
— id: 74927, year: 2003, vol: 73, page: 456, stat: Journal Article,

Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease
Miller, A; Brown, L K; Pastores, G M; Desnick, R J
2003 May;63(5):368-376, Clinical genetics
— id: 109103, year: 2003, vol: 63, page: 368, stat: Journal Article,

Glycosphingolipid reduction in fibroblasts of Tay-Sachs disease patients treated with n-butyldeoxynojirimycin
Ong, E; Raghavan, S; Pastores, G; Kolodny, EH
2003 MAY ;85(9):68-68, Journal of neurochemistry
— id: 38572, year: 2003, vol: 85, page: 68, stat: Journal Article,

A neurological symptom survey of patients with type I Gaucher disease
Pastores, G M; Barnett, N L; Bathan, P; Kolodny, E H
2003 ;26(7):641-645, Journal of inherited metabolic disease
— id: 46030, year: 2003, vol: 26, page: 641, stat: Journal Article,

Enzyme therapy for the lysosomal storage disorders: principles, patents, practice and prospects
Pastores, GM
2003 AUG ;13(8):1157-1172, Expert opinion on therapeutic patents
— id: 38538, year: 2003, vol: 13, page: 1157, stat: Journal Article,

The clinical benefit of Aldurazyme (R) (laronidase) for the treatment of MPS I
Pastores, GM; Wraith, JE; Clarke, LA; Beck, M; Kolodny, EH; Muenzer, J; Cox, FG; Skrinar, AM
2003 NOV ;73(5):624-624, American journal of human genetics
— id: 74930, year: 2003, vol: 73, page: 624, stat: Journal Article,

Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1
Pastores, Gregory M; Barnett, Natalie L
2003 Feb;12(2):273-281, Expert opinion on investigational drugs
— id: 39321, year: 2003, vol: 12, page: 273, stat: Journal Article,

Extended interval between enzyme therapy infusions for adult patients with Gaucher's disease type 1
Perez-Calvo, J; Giraldo, P; Pastores, G M; Fernandez-Galan, M; Martin-Nunez, G; Pocovi, M
2003 Apr-Jun;49(2):127-131, Journal of postgraduate medicine
— id: 109101, year: 2003, vol: 49, page: 127, stat: Journal Article,

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors
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
2002 Apr;11(2):121-146, Journal of genetic counseling
— id: 109104, year: 2002, vol: 11, page: 121, stat: Journal Article,

Diagnosis & treatment of Gaucher disease
Brady, Roscoe O; Mankin, Henry; Grabowski, Gregory A; Pastores, Gregory; Barton, Norman
[Houston TX] : MediVision, 2002,
— id: 2124, year: 2002, vol: , page: , stat: ,

RhIDU enzyme replacement therapy for MPS 1: 24-week extension study
Clarke, LA; Muenzer, J; Kolodny, EH; Pastores, GM; Beck, M; Wraith, JE
2002 OCT ;71(4):581-581, American journal of human genetics
— id: 74932, year: 2002, vol: 71, page: 581, stat: Journal Article,

Quality of life of patients with Fabry disease
Gold, K F; Pastores, G M; Botteman, M F; Yeh, J M; Sweeney, S; Aliski, W; Pashos, C L
2002 Jun;11(4):317-327, Quality of life research
— id: 109106, year: 2002, vol: 11, page: 317, stat: Journal Article,

Anderson-Fabry disease: extrarenal, neurologic manifestations
Kolodny, Edwin H; Pastores, Gregory M
2002 Jun;13 Suppl 2(3):S150-S153, Journal of the American Society of Nephrology
— id: 39626, year: 2002, vol: 13 Suppl 2, page: S150, stat: Journal Article,

Biochemical and molecular genetic basis of Fabry disease
Pastores, Gregory M; Lien, Yeong-Hau H
2002 Jun;13 Suppl 2(3):S130-S133, Journal of the American Society of Nephrology
— id: 39627, year: 2002, vol: 13 Suppl 2, page: S130, stat: Journal Article,

Advances in the management of Anderson-Fabry disease: enzyme replacement therapy
Pastores, Gregory M; Thadhani, Ravi
2002 Mar;2(3):325-333, Expert opinion on biological therapy
— id: 39426, year: 2002, vol: 2, page: 325, stat: Journal Article,

Patients with Fabry disease on dialysis in the United States
Thadhani, Ravi; Wolf, Myles; West, Michael L; Tonelli, Marcello; Ruthazer, Robin; Pastores, Gregory M; Obrador, Gregorio T
2002 Jan;61(1):249-255, Kidney international
— id: 109107, year: 2002, vol: 61, page: 249, stat: Journal Article,

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
Torralba, M A; Alfonso, P; Perez-Calvo, J I; Cenarro, A; Pastores, G M; Giraldo, P; Civeira, F; Pocovi, M
2002 Jul-Aug;29(1):35-40, Blood cells, molecules, & diseases
— id: 109105, year: 2002, vol: 29, page: 35, stat: Journal Article,

Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson's disease
Wang, Z H; Ji, Y; Shan, W; Zeng, B; Raksadawan, N; Pastores, G M; Wisniewski, T; Kolodny, E H
2002 ;113(3):629-640, Neuroscience
— id: 39612, year: 2002, vol: 113, page: 629, stat: Journal Article,

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, Neal J; Charrow, Joel; Andersson, Hans C; Kaplan, Paige; Kolodny, Edwin H; Mistry, Pramod; Pastores, Gregory; Rosenbloom, Barry E; Scott, C Ronald; Wappner, Rebecca S; Zimran, Ari
2002 Aug 1;113(2):112-119, American journal of medicine
— id: 62690, year: 2002, vol: 113, page: 112, stat: Journal Article,

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
Weinreb, NJ; Andersson, H; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, PK; Pastores, G; Prakash-Cheng, A; Rosenbloom, BE; Scott, CR; Wappner, RS
2002 NOV 16 ;100(11):485A-485A, Blood
— id: 74931, year: 2002, vol: 100, page: 485A, stat: Journal Article,

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease
Zeng, B J; Wang, Z H; Ribeiro, L A; Leone, P; De Gasperi, R; Kim, S J; Raghavan, S; Ong, E; Pastores, G M; Kolodny, E H
2002 Nov;25(7):557-570, Journal of inherited metabolic disease
— id: 39272, year: 2002, vol: 25, page: 557, stat: Journal Article,

Littoral cell angioma of the spleen in a patient with Gaucher disease
Gupta, M K; Levin, M; Aguilera, N S; Pastores, G M
2001 Sep;68(1):61-62, American journal of hematology
— id: 109109, year: 2001, vol: 68, page: 61, stat: Journal Article,

Growth improvement in response to enzyme replacement therapy (ERT) among children with Gaucher disease: The Gaucher Registry
Kaplan, P; Andersson, HC; Charrow, J; Kolodny, EH; Mistry, P; Pastores, GM; Rosenbloom, BE; Scott, CR; Wappner, RS; Weinreb, NJ
2001 OCT ;69(4):674-674, American journal of human genetics
— id: 74935, year: 2001, vol: 69, page: 674, stat: Journal Article,

Gaucher disease: Genetics, diagnosis and management
Levin M; Pleskova I; Pastores GM
2001 Apr;37(4):257-264, Drugs of today (Barcelona, Spain : 1998)
— id: 109102, year: 2001, vol: 37, page: 257, stat: Journal Article,

Enzyme-replacement therapy for Anderson-Fabry disease
Pastores GM; Thadhani R
2001 Aug 25;358(9282):601-603, Lancet
— id: 26680, year: 2001, vol: 358, page: 601, stat: Journal Article,

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
Rodriguez-Mari, A; Diaz-Font, A; Chabas, A; Pastores, G M; Grinberg, D; Vilageliu, L
2001 Sep-Oct;27(5):950-959, Blood cells, molecules, & diseases
— id: 109108, year: 2001, vol: 27, page: 950, stat: Journal Article,

Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients
Torralba, M A; Perez-Calvo, J I; Pastores, G M; Cenarro, A; Giraldo, P; Pocovi, M
2001 Mar-Apr;27(2):489-495, Blood cells, molecules, & diseases
— id: 79373, year: 2001, vol: 27, page: 489, stat: Journal Article,

Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV
Wang ZH; Zeng B; Pastores GM; Raksadawan N; Ong E; Kolodny EH
2001 Summer;5(2):87-92, Genetic testing
— id: 39483, year: 2001, vol: 5, page: 87, stat: Journal Article,

The major mutation in mucolipidosis IV among Ashkenazi Jewish individuals requires further clarification. (vol 5, pg 87, 2001)
Wang, ZH; Zeng, B; Pastores, GM; Raksadawan, N; Ong, E; Kolodny, EH
2001 ;5(3):273-273 FAL, Genetic testing
— id: 74933, year: 2001, vol: 5, page: 273, stat: Journal Article,

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
Weinreb, NJ; Andersson, HC; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, P; Pastores, G; Rosenbloom, BE; Scott, CR; Wappner, RS
2001 NOV 16 ;98(11):20A-20A, Blood
— id: 74934, year: 2001, vol: 98, page: 20A, stat: Journal Article,

The Gaucher Registry: Demographics and disease characteristics and response to enzyme replacement therapy (ERT) for 78 pediatric patients (pts)
Andersson, H; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, P; Pastores, G; Rosenbloom, BE; Wappner, RS
2000 NOV 16 ;96(11):8A-8A, Blood
— id: 74936, year: 2000, vol: 96, page: 8A, stat: Journal Article,

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease
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
2000 Oct 9;160(18):2835-2843, Archives of internal medicine
— id: 75015, year: 2000, vol: 160, page: 2835, stat: Journal Article,

On the age of the most prevalent Gaucher disease-causing mutation, N370S
Diaz, A; Montfort, M; Cormand, B; Zeng, B; Pastores, G M; Chabas, A; Vilageliu, L; Grinberg, D
2000 Jun;66(6):2014-2015, American journal of human genetics
— id: 109110, year: 2000, vol: 66, page: 2014, stat: Journal Article,

Bone and joint complications related to Gaucher disease
Pastores GM; Patel MJ; Firooznia H
2000 Apr;2(2):175-180, Current rheumatology reports
— id: 29057, year: 2000, vol: 2, page: 175, stat: Journal Article,

Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis
Wang ZH; Zeng B; Shibuya H; Johnson GS; Alroy J; Pastores GM; Raghavan S; Kolodny EH
2000 Sep;23(6):593-606, Journal of inherited metabolic disease
— id: 39537, year: 2000, vol: 23, page: 593, stat: Journal Article,

The Gaucher Registry: Severe bone disease among patients with Gaucher disease in the absence of significant hematologic abnormalities
Weinreb, NJ; Andersson, H; Charrow, J; Kaplan, P; Kolodny, EH; Mistry, P; Pastores, G; Rosenbloom, BE; Scott, CR; Wappner, RS
2000 NOV 16 ;96(11):8A-8A, Blood
— id: 74937, year: 2000, vol: 96, page: 8A, stat: Journal Article,

Gaucher disease - In reply
Charrow, J; Esplin, JA; Kaplan, P; Kolodny, EH; Pastores, GM; Scott, CR; Wappner, RS; Weinreb, NJ; Wisch, JS
1999 APR 26 ;159(8):881-882, Archives of internal medicine
— id: 74943, year: 1999, vol: 159, page: 881, stat: Journal Article,

Recommendations for diagnosis, evaluation, and monitoring of patients with Gaucher disease - In reply
Charrow, J; Esplin, JA; Kaplan, P; Kolodny, EH; Pastores, GM; Scott, CR; Wappner, RS; Weinreb, NJ; Wisch, JS
1999 JUN 14 ;159(11):1255-1255, Archives of internal medicine
— id: 74941, year: 1999, vol: 159, page: 1255, stat: Journal Article,

Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago
Diaz, A; Montfort, M; Cormand, B; Zeng, B; Pastores, G M; Chabas, A; Vilageliu, L; Grinberg, D
1999 Apr;64(4):1233-1238, American journal of human genetics
— id: 109111, year: 1999, vol: 64, page: 1233, stat: Journal Article,

Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease
Grace, M E; Ashton-Prolla, P; Pastores, G M; Soni, A; Desnick, R J
1999 Mar;103(6):817-823, Journal of clinical investigation
— id: 109112, year: 1999, vol: 103, page: 817, stat: Journal Article,

Gaucher disease: recommendations on diagnosis, evaluation, and monitoring
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
1998 Sep 14;158(16):1754-1760, Archives of internal medicine
— id: 75017, year: 1998, vol: 158, page: 1754, stat: Journal Article,

The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study
Damiano AM; Pastores GM; Ware JE Jr
1998 Jul;7(5):373-386, Quality of life research
— id: 57130, year: 1998, vol: 7, page: 373, stat: Journal Article,

Pulmonary hypertension in Gaucher's disease
Pastores, G M; Miller, A
1998 Aug 15;352(9127):580-580, Lancet
— id: 109113, year: 1998, vol: 352, page: 580, stat: Journal Article,

Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients
Grace, M E; Desnick, R J; Pastores, G M
1997 May 15;99(10):2530-2537, Journal of clinical investigation
— id: 109116, year: 1997, vol: 99, page: 2530, stat: Journal Article,

Gaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacement
Hermann, G; Pastores, G M; Abdelwahab, I F; Lorberboym, A M
1997 Dec;26(12):687-696, Skeletal radiology
— id: 109114, year: 1997, vol: 26, page: 687, stat: Journal Article,

Scintigraphic monitoring of reticuloendothelial system in patients with type 1 Gaucher disease on enzyme replacement therapy
Lorberboym, M; Pastores, G M; Kim, C K; Hermann, G; Glajchen, N; Machac, J
1997 Jun;38(6):890-895, Journal of nuclear medicine
— id: 109115, year: 1997, vol: 38, page: 890, stat: Journal Article,

Gaucher's Disease. Pathological features
Pastores GM
1997 Dec;10(4):739-749, Bailliere's clinical haematology
— id: 12156, year: 1997, vol: 10, page: 739, stat: Journal Article,

Use of various diagnostic methods in a patient with Gaucher disease type I
Farahati, J; Trenn, G; John-Mikolajewski, V; Zander, C; Pastores, G M; Sciuk, J; Reiners, C
1996 Aug;21(8):619-625, Clinical nuclear medicine
— id: 109118, year: 1996, vol: 21, page: 619, stat: Journal Article,

Osteoblastoma of the humerus associated with type-I Gaucher's disease. A case report
Kenan, S; Abdelwahab, I F; Hermann, G; Klein, M; Pastores, G
1996 Sep;78(5):702-705, Journal of bone & joint surgery (British volume)
— id: 131019, year: 1996, vol: 78, page: 702, stat: Journal Article,

Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy
Pastores, G M; Hermann, G; Norton, K I; Lorberboym, M; Desnick, R J
1996 Jul;25(5):485-488, Skeletal radiology
— id: 109119, year: 1996, vol: 25, page: 485, stat: Journal Article,

Bone density in Type 1 Gaucher disease
Pastores, G M; Wallenstein, S; Desnick, R J; Luckey, M M
1996 Nov;11(11):1801-1807, Journal of bone & mineral research
— id: 109117, year: 1996, vol: 11, page: 1801, stat: Journal Article,

Antisulfatide antibody and neuropathy in a patient with Gaucher's disease
McAlarney, T; Pastores, G M; Hays, A P; Latov, N
1995 Aug;45(8):1622-1623, Neurology
— id: 109120, year: 1995, vol: 45, page: 1622, stat: Journal Article,

Resolution of a proximal humeral defect in type-1 Gaucher disease by enzyme replacement therapy
Pastores, G M; Hermann, G; Norton, K; Desnick, R J
1995 ;25(6):486-487, Pediatric radiology
— id: 109121, year: 1995, vol: 25, page: 486, stat: Journal Article,

Extraosseous extension of Gaucher cell deposits mimicking malignancy
Hermann, G; Shapiro, R; Abdelwahab, I F; Klein, M J; Pastores, G; Grabowski, G
1994 May;23(4):253-256, Skeletal radiology
— id: 131039, year: 1994, vol: 23, page: 253, stat: Journal Article,

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)
Pastores, G M; Santorelli, F M; Shanske, S; Gelb, B D; Fyfe, B; Wolfe, D; Willner, J P
1994 Apr 15;50(3):265-271, American journal of medical genetics
— id: 109123, year: 1994, vol: 50, page: 265, stat: Journal Article,

[Treatment of Gaucher's disease type I. Towards a definitive solution?]
Perez Calvo, J I; Pastores, G M
1994 Jun 4;103(1):16-18, Medicina clinica (Barcelona)
— id: 109122, year: 1994, vol: 103, page: 16, stat: Journal Article,

[Current therapeutic focus in type I Gaucher's disease]
Perez Calvo, J I; Pastores, G M; Isola, L; Giraldo, P; Bueno Gomez, J
1994 Feb;39(1):39-44, Sangre
— id: 109124, year: 1994, vol: 39, page: 39, stat: Journal Article,

Dystrophin analysis in idiopathic dilated cardiomyopathy
Michels, V V; Pastores, G M; Moll, P P; Driscoll, D J; Miller, F A; Burnett, J C; Rodeheffer, R J; Tajik, J A; Beggs, A H; Kunkel, L M
1993 Nov;30(11):955-957, Journal of medical genetics
— id: 109125, year: 1993, vol: 30, page: 955, stat: Journal Article,

Autosomal dominant supravalvular aortic stenosis: localization to chromosome 7
Olson, T M; Michels, V V; Lindor, N M; Pastores, G M; Weber, J L; Schaid, D J; Driscoll, D J; Feldt, R H; Thibodeau, S N
1993 Jul;2(7):869-873, Human molecular genetics
— id: 109127, year: 1993, vol: 2, page: 869, stat: Journal Article,

Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months
Pastores, G M; Sibille, A R; Grabowski, G A
1993 Jul 15;82(2):408-416, Blood
— id: 109126, year: 1993, vol: 82, page: 408, stat: Journal Article,

Gaucher Disease
Pastores, Gregory M; Hughes, Derralynn A
GeneReviews Seattle WA : University of Washington, 2000,
— id: 5307, year: 1993, vol: , page: ?, stat: Chapter,

Exclusion of calcitonin/alpha-CGRP gene defect in a family with autosomal dominant supravalvular aortic stenosis
Pastores, G M; Michels, V V; Schaid, D J; Driscoll, D J; Feldt, R H; Thibodeau, S N
1992 Jan;29(1):56-57, Journal of medical genetics
— id: 109128, year: 1992, vol: 29, page: 56, stat: Journal Article,

Early childhood diagnosis of acoustic neuromas in presymptomatic individuals at risk for neurofibromatosis 2
Pastores, G M; Michels, V V; Jack, C R Jr
1991 Dec 1;41(3):325-329, American journal of medical genetics
— id: 109129, year: 1991, vol: 41, page: 325, stat: Journal Article,

Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts
Pastores, G M; Michels, V V; Stickler, G B; Su, W P; Nelson, A M; Bovenmyer, D A
1990 Sep;117(3):403-408, Journal of pediatrics
— id: 109130, year: 1990, vol: 117, page: 403, stat: Journal Article,