-
1
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
Meikle, P.J., et al. Prevalence of lysosomal storage disorders. JAMA 281:3 (1999), 249–254.
-
(1999)
JAMA
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
-
2
-
-
39549119956
-
-
C.R. Scriver A.L. Beaudet D. Valle et al. (eds.) (2006]; Available from:)
-
Grabowski, G.A., Kolodny, E., Weinreb, N.J., Scriver, C.R., Beaudet, A.L., Valle, D., et al. (eds.) Gaucher disease: phenotypic and genetic variation, 2006 (2006]; Available from: http://genetics.accessmedicine.com/mmbid/public/co_contents/toc_part16.html).
-
(2006)
Gaucher disease: phenotypic and genetic variation
-
-
Grabowski, G.A.1
Kolodny, E.2
Weinreb, N.J.3
-
3
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency — macrophage-targeted glucocerebrosidase for Gaucher's disease
-
Barton, N.W., et al. Replacement therapy for inherited enzyme deficiency — macrophage-targeted glucocerebrosidase for Gaucher's disease. N. Engl. J. Med. 324:21 (1991), 1464–1470.
-
(1991)
N. Engl. J. Med.
, vol.324
, Issue.21
, pp. 1464-1470
-
-
Barton, N.W.1
-
4
-
-
0031868229
-
Enzyme therapy for Gaucher disease: the first 5 years
-
Grabowski, G.A., Leslie, N., Wenstrup, R., Enzyme therapy for Gaucher disease: the first 5 years. Blood Rev. 12:2 (1998), 115–133.
-
(1998)
Blood Rev.
, vol.12
, Issue.2
, pp. 115-133
-
-
Grabowski, G.A.1
Leslie, N.2
Wenstrup, R.3
-
5
-
-
77954693904
-
Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience
-
Zimran, A., et al. Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood 115:23 (2010), 4651–4656.
-
(2010)
Blood
, vol.115
, Issue.23
, pp. 4651-4656
-
-
Zimran, A.1
-
6
-
-
82155184565
-
Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease
-
Zimran, A., et al. Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood 118:22 (2011), 5767–5773.
-
(2011)
Blood
, vol.118
, Issue.22
, pp. 5767-5773
-
-
Zimran, A.1
-
7
-
-
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, N.J., 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. 113:2 (2002), 112–119.
-
(2002)
Am. J. Med.
, vol.113
, Issue.2
, pp. 112-119
-
-
Weinreb, N.J.1
-
8
-
-
10744226382
-
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement
-
Cox, T.M., et al. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J. Inherit. Metab. Dis. 26:6 (2003), 513–526.
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, Issue.6
, pp. 513-526
-
-
Cox, T.M.1
-
9
-
-
70450173661
-
Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme
-
Hollak, C.E., et al. Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme. Pharmacoepidemiol. Drug Saf. 18:9 (2009), 770–777.
-
(2009)
Pharmacoepidemiol. Drug Saf.
, vol.18
, Issue.9
, pp. 770-777
-
-
Hollak, C.E.1
-
10
-
-
84930932122
-
Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial
-
Cox, T.M., et al. Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial. Lancet 385:9985 (2015), 2355–2362.
-
(2015)
Lancet
, vol.385
, Issue.9985
, pp. 2355-2362
-
-
Cox, T.M.1
-
11
-
-
4744370348
-
Therapeutic goals in the treatment of Gaucher disease
-
Pastores, G.M., et al. Therapeutic goals in the treatment of Gaucher disease. Semin. Hematol. 41 (2004), 4–14.
-
(2004)
Semin. Hematol.
, vol.41
, pp. 4-14
-
-
Pastores, G.M.1
-
12
-
-
78651236390
-
Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy
-
Deegan, P.B., et al. Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine (Baltimore) 90:1 (2011), 52–60.
-
(2011)
Medicine (Baltimore)
, vol.90
, Issue.1
, pp. 52-60
-
-
Deegan, P.B.1
-
13
-
-
84878496452
-
Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature
-
Arends, M., et al. Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature. Br. J. Haematol. 161:6 (2013), 832–842.
-
(2013)
Br. J. Haematol.
, vol.161
, Issue.6
, pp. 832-842
-
-
Arends, M.1
-
14
-
-
0036399154
-
Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy
-
Mistry, P.K., et al. Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol. Genet. Metab. 77:1–2 (2002), 91–98.
-
(2002)
Mol. Genet. Metab.
, vol.77
, Issue.1-2
, pp. 91-98
-
-
Mistry, P.K.1
-
15
-
-
10744226352
-
Gaucher's disease with Parkinson's disease: clinical and pathological aspects
-
Bembi, B., et al. Gaucher's disease with Parkinson's disease: clinical and pathological aspects. Neurology 61:1 (2003), 99–101.
-
(2003)
Neurology
, vol.61
, Issue.1
, pp. 99-101
-
-
Bembi, B.1
-
16
-
-
40849113048
-
Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance
-
Langeveld, M., et al. Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance. J. Clin. Endocrinol. Metab. 93:3 (2008), 845–851.
-
(2008)
J. Clin. Endocrinol. Metab.
, vol.93
, Issue.3
, pp. 845-851
-
-
Langeveld, M.1
-
17
-
-
84906929955
-
Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications
-
van Dussen, L., et al. Modelling Gaucher disease progression: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications. Orphanet J. Rare Dis., 9, 2014, 112.
-
(2014)
Orphanet J. Rare Dis.
, vol.9
, pp. 112
-
-
van Dussen, L.1
-
18
-
-
84916227639
-
Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy
-
Pavlova, E.V., et al. Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy. J. Pathol. 235:1 (2015), 113–124.
-
(2015)
J. Pathol.
, vol.235
, Issue.1
, pp. 113-124
-
-
Pavlova, E.V.1
-
19
-
-
84937572468
-
Patient-reported outcomes (PROs) and patient-reported outcome measures (PROMs)
-
Weldring, T., Smith, S.M., Patient-reported outcomes (PROs) and patient-reported outcome measures (PROMs). Health Serv. Insights 6 (2013), 61–68.
-
(2013)
Health Serv. Insights
, vol.6
, pp. 61-68
-
-
Weldring, T.1
Smith, S.M.2
-
20
-
-
70349779297
-
The Delphi technique: making sense of consensus
-
Hsu, C.C., Sandford, B.A., The Delphi technique: making sense of consensus. Pract. Assess. Res. Eval., 12(10), 2007.
-
(2007)
Pract. Assess. Res. Eval.
, vol.12
, Issue.10
-
-
Hsu, C.C.1
Sandford, B.A.2
-
21
-
-
80053181548
-
Content validity of the Extended ICF Core Set for stroke: an international Delphi survey of physical therapists
-
Glassel, A., et al. Content validity of the Extended ICF Core Set for stroke: an international Delphi survey of physical therapists. Phys. Ther. 91:8 (2011), 1211–1222.
-
(2011)
Phys. Ther.
, vol.91
, Issue.8
, pp. 1211-1222
-
-
Glassel, A.1
-
22
-
-
84913529020
-
Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance
-
Smid, B.E., et al. Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. Int. J. Cardiol. 177:2 (2014), 400–408.
-
(2014)
Int. J. Cardiol.
, vol.177
, Issue.2
, pp. 400-408
-
-
Smid, B.E.1
-
23
-
-
0024320293
-
Prediction of severity of Gaucher's disease by identification of mutations at DNA level
-
Zimran, A., et al. Prediction of severity of Gaucher's disease by identification of mutations at DNA level. Lancet 2:8659 (1989), 349–352.
-
(1989)
Lancet
, vol.2
, Issue.8659
, pp. 349-352
-
-
Zimran, A.1
-
24
-
-
48749087616
-
A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease
-
Di Rocco, M., et al. A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease. Haematologica 93:8 (2008), 1211–1218.
-
(2008)
Haematologica
, vol.93
, Issue.8
, pp. 1211-1218
-
-
Di Rocco, M.1
-
25
-
-
84935848551
-
Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3)
-
Weinreb, N.J., et al. Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3). Orphanet J. Rare Dis., 10, 2015, 64.
-
(2015)
Orphanet J. Rare Dis.
, vol.10
, pp. 64
-
-
Weinreb, N.J.1
-
26
-
-
0028220472
-
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease
-
Hollak, C.E., et al. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 93:3 (1994), 1288–1292.
-
(1994)
J. Clin. Invest.
, vol.93
, Issue.3
, pp. 1288-1292
-
-
Hollak, C.E.1
-
27
-
-
9144222696
-
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention
-
Boot, R.G., et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 103:1 (2004), 33–39.
-
(2004)
Blood
, vol.103
, Issue.1
, pp. 33-39
-
-
Boot, R.G.1
-
28
-
-
77954910427
-
Hyperferritinemia and iron overload in type 1 Gaucher disease
-
Stein, P., et al. Hyperferritinemia and iron overload in type 1 Gaucher disease. Am. J. Hematol. 85:7 (2010), 472–476.
-
(2010)
Am. J. Hematol.
, vol.85
, Issue.7
, pp. 472-476
-
-
Stein, P.1
-
29
-
-
41049109149
-
Achievement of the goals of therapy for patients with Gaucher disease on enzyme replacement therapy is higher among earlier-treated patients and is not influenced by disease severity at presentation
-
Symeonidis, A., et al. Achievement of the goals of therapy for patients with Gaucher disease on enzyme replacement therapy is higher among earlier-treated patients and is not influenced by disease severity at presentation. Haematologica, 92(Suppl. 1), 2007, 277.
-
(2007)
Haematologica
, vol.92
, pp. 277
-
-
Symeonidis, A.1
-
30
-
-
84929519531
-
The attenuated/late onset lysosomal storage disorders: therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease
-
Hollak, C.E., Weinreb, N.J., The attenuated/late onset lysosomal storage disorders: therapeutic goals and indications for enzyme replacement treatment in Gaucher and Fabry disease. Best Pract. Res. Clin. Endocrinol. Metab. 29:2 (2015), 205–218.
-
(2015)
Best Pract. Res. Clin. Endocrinol. Metab.
, vol.29
, Issue.2
, pp. 205-218
-
-
Hollak, C.E.1
Weinreb, N.J.2
|