-
1
-
-
0000216808
-
Gaucher disease
-
Scriver CR, Beaudet A, Sly W, et al, eds. New York, NY: McGraw-Hill
-
Beutler E, Grabowski G. Gaucher disease. In: Scriver CR, Beaudet A, Sly W, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001:3635-3668.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.2
-
2
-
-
0028883136
-
Enzyme therapy in type 1 Gaucher disease: Comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources
-
Grabowski GA, Barton NW, Pastores G, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med. 1995;122(1):33-39.
-
(1995)
Ann Intern Med
, vol.122
, Issue.1
, pp. 33-39
-
-
Grabowski, G.A.1
Barton, N.W.2
Pastores, G.3
-
3
-
-
4744370348
-
Therapeutic goals in the treatment of Gaucher disease
-
DOI 10.1053/j.seminhematol.2004.07.009, PII S0037196304001325
-
Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(4 suppl 5):4-14. (Pubitemid 39311677)
-
(2004)
Seminars in Hematology
, vol.41
, Issue.SUPPL. 5
, pp. 4-14
-
-
Pastores, G.M.1
Weinreb, N.J.2
Aerts, H.3
Andria, G.4
Cox, T.M.5
Giralt, M.6
Grabowski, G.A.7
Mistry, P.K.8
Tylki-Szymanska, A.9
-
4
-
-
0037159549
-
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry
-
Weinreb NJ, Charrow J, Andersson HC, et al. 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. Am J Med. 2002;113(2):112-119.
-
(2002)
Am J Med
, vol.113
, Issue.2
, pp. 112-119
-
-
Weinreb, N.J.1
Charrow, J.2
Andersson, H.C.3
-
5
-
-
0019003203
-
Analogs of ceramide that inhibit glucocerebroside synthetase in mouse brain
-
Vunnam RR, Radin NS. Analogs of ceramide that inhibit glucocerebroside synthetase in mouse brain. Chem Phys Lipids. 1980;26(3):265-278.
-
(1980)
Chem Phys Lipids
, vol.26
, Issue.3
, pp. 265-278
-
-
Vunnam, R.R.1
Radin, N.S.2
-
6
-
-
77956535698
-
-
Allschwil, Switzerland: Actelion Pharmaceuticals Ltd
-
Miglustat [package insert]. Allschwil, Switzerland: Actelion Pharmaceuticals Ltd; 2008.
-
(2008)
Miglustat [Package Insert]
-
-
-
7
-
-
0034728914
-
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox T, Lachmann R, Hollak C, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet. 2000;355(9214):1481-1485. (Pubitemid 30237353)
-
(2000)
Lancet
, vol.355
, Issue.9214
, pp. 1481-1485
-
-
Cox, T.1
Lachmann, R.2
Hollak, C.3
Aerts, J.4
Van Weely, S.5
Hrebicek, M.6
Platt, F.7
Butters, T.8
Dwek, R.9
Moyses, C.10
Gow, I.11
Elstein, D.12
Zimran, A.13
-
8
-
-
0033591332
-
Improved inhibitors of glucosylceramide synthase
-
Lee L, Abe A, Shayman JA. Improved inhibitors of glucosylceramide synthase. J Biol Chem. 1999;274(21):14662-14669.
-
(1999)
J Biol Chem
, vol.274
, Issue.21
, pp. 14662-14669
-
-
Lee, L.1
Abe, A.2
Shayman, J.A.3
-
9
-
-
34249306894
-
A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease
-
DOI 10.1016/j.ymgme.2007.04.001, PII S1096719207001254
-
McEachern KA, Fung J, Komarnitsky S, et al. A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab. 2007;91(3):259-267. (Pubitemid 46819125)
-
(2007)
Molecular Genetics and Metabolism
, vol.91
, Issue.3
, pp. 259-267
-
-
McEachern, K.A.1
Fung, J.2
Komarnitsky, S.3
Siegel, C.S.4
Chuang, W.-L.5
Hutto, E.6
Shayman, J.A.7
Grabowski, G.A.8
Aerts, J.M.F.G.9
Cheng, S.H.10
Copeland, D.P.11
Marshall, J.12
-
10
-
-
77957601016
-
Safety, tolerability, and pharmacokinetics of eliglustat tartrate (Genz-112638) after single doses, multiple doses, and food in healthy volunteers
-
In press
-
Peterschmitt MJ, Burke A, Blankstein L, et al. Safety, tolerability, and pharmacokinetics of eliglustat tartrate (Genz-112638) after single doses, multiple doses, and food in healthy volunteers. J Clin Pharmacol. In press.
-
J Clin Pharmacol
-
-
Peterschmitt, M.J.1
Burke, A.2
Blankstein, L.3
-
11
-
-
0029155493
-
Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophage-targeted glucocerebrosidase
-
Rosenthal DI, Doppelt SH, Mankin HJ, et al. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics. 1995;96(4):629-637.
-
(1995)
Pediatrics
, vol.96
, Issue.4
, pp. 629-637
-
-
Rosenthal, D.I.1
Doppelt, S.H.2
Mankin, H.J.3
-
13
-
-
34447529341
-
Summary of the International Society for Clinical densitometry 2005 position development conference
-
DOI 10.1359/jbmr.070204
-
Baim S, Binkley N, Bilezikian JP, et al. Official positions of the International Society for Clinical Densitometry and executive summary of the 2007 ISCD Position Development Conference. J Clin Densitom. 2008;11(1):75-91. (Pubitemid 351339091)
-
(2007)
Journal of Bone and Mineral Research
, vol.22
, Issue.5
, pp. 643-645
-
-
Binkley, N.1
Bilezikian, J.P.2
Kendler, D.L.3
Leib, E.S.4
Lewiecki, E.M.5
Petak, S.M.6
-
14
-
-
0001824768
-
Assessing individual outcomes during outpatient multidisciplinary chronic pain treatment by means of an augmented SF-36
-
Rogers WH, Wittink H, Wagner A, Cynn D, Carr DB. Assessing individual outcomes during outpatient multidisciplinary chronic pain treatment by means of an augmented SF-36. Pain Med. 2000;1(1):44-54.
-
(2000)
Pain Med
, vol.1
, Issue.1
, pp. 44-54
-
-
Rogers, W.H.1
Wittink, H.2
Wagner, A.3
Cynn, D.4
Carr, D.B.5
-
15
-
-
0024420189
-
The fatigue severity scale. Application to patients with multiple sclerosis and systemic lupus erythematosus
-
Krupp LB, LaRocca NG, Muir-Nash J, Steinberg AD. The fatigue severity scale: application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol. 1989;46(10):1121-1123. (Pubitemid 19246303)
-
(1989)
Archives of Neurology
, vol.46
, Issue.10
, pp. 1121-1123
-
-
Krupp, L.B.1
LaRocca, N.G.2
Muir-Nash, J.3
Steinberg, A.D.4
-
16
-
-
29144480834
-
Gaucher disease in Colombia: Mutation identification and comparison to other hispanic populations
-
DOI 10.1016/j.ymgme.2005.07.026, PII S1096719205002477
-
Pomponio RJ, Cabrera-Salazar MA, Echeverri OY, Miller G, Barrera LA. Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations. Mol Genet Metab. 2005;86(4):466-472. (Pubitemid 41796489)
-
(2005)
Molecular Genetics and Metabolism
, vol.86
, Issue.4
, pp. 466-472
-
-
Pomponio, R.J.1
Cabrera-Salazar, M.A.2
Echeverri, O.Y.3
Miller, G.4
Barrera, L.A.5
-
17
-
-
0028220472
-
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease
-
Hollak CE, van Weely S, van Oers MH, Aerts JM. Marked elevation of plasma chitotriosidase activity: a novel hallmark of Gaucher disease. J Clin Invest. 1994;93(3):1288-1292. (Pubitemid 24087186)
-
(1994)
Journal of Clinical Investigation
, vol.93
, Issue.3
, pp. 1288-1292
-
-
Hollak, C.E.M.1
Van Weely, S.2
Van Oers, M.H.J.3
Aerts, J.M.F.G.4
-
18
-
-
62149099925
-
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
-
Grabowski GA, Kacena K, Cole JA, et al. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med. 2009;11(2):92-100.
-
(2009)
Genet Med
, vol.11
, Issue.2
, pp. 92-100
-
-
Grabowski, G.A.1
Kacena, K.2
Cole, J.A.3
-
19
-
-
33845933154
-
Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease
-
DOI 10.1359/jbmr.061004
-
Wenstrup RJ, Kacena KA, Kaplan P, et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res. 2007;22(1):119-126. (Pubitemid 46032604)
-
(2007)
Journal of Bone and Mineral Research
, vol.22
, Issue.1
, pp. 119-126
-
-
Wenstrup, R.J.1
Kacena, K.A.2
Kaplan, P.3
Pastores, G.M.4
Prakash-Cheng, A.5
Zimran, A.6
Hangartner, T.N.7
-
20
-
-
34848916343
-
Effect of Miglustat on Bone Disease in Adults with Type 1 Gaucher Disease: A Pooled Analysis of Three Multinational, Open-Label Studies
-
DOI 10.1016/j.clinthera.2007.08.006, PII S014929180700241X
-
Pastores GM, Elstein D, Hrebicek M, Zimran A. Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. Clin Ther. 2007;29(8):1645-1654. (Pubitemid 47494543)
-
(2007)
Clinical Therapeutics
, vol.29
, Issue.8
, pp. 1645-1654
-
-
Pastores, G.M.1
Elstein, D.2
Hrebicek, M.3
Zimran, A.4
-
21
-
-
69549135031
-
Gaucher disease: A model disorder for biomarker discovery
-
Boot RG, van Breemen MJ, Wegdam W, et al. Gaucher disease: a model disorder for biomarker discovery. Expert Rev Proteomics. 2009;6(4):411-419.
-
(2009)
Expert Rev Proteomics
, vol.6
, Issue.4
, pp. 411-419
-
-
Boot, R.G.1
Van Breemen, M.J.2
Wegdam, W.3
-
22
-
-
40849113048
-
Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance
-
DOI 10.1210/jc.2007-1702
-
Langeveld M, Ghauharali KJ, Sauerwein HP, et al. Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance. J Clin Endocrinol Metab. 2008;93(3):845-851. (Pubitemid 351398562)
-
(2008)
Journal of Clinical Endocrinology and Metabolism
, vol.93
, Issue.3
, pp. 845-851
-
-
Langeveld, M.1
Ghauharali, K.J.M.2
Sauerwein, H.P.3
Ackermans, M.T.4
Groener, J.E.M.5
Hollak, C.E.M.6
Aerts, J.M.7
Serlie, M.J.8
|