-
1
-
-
0000216808
-
-
In Scriver C. R. Beaudet A. L. Sly W. S. eds The metabolic and molecular bases of inherited disease. ed New York, NY McGraw-Hill
-
Beutler E, Grabowski G A. Gaucher disease. In Scriver C R. Beaudet A L. Sly W S. eds The metabolic and molecular bases of inherited disease. 8th. ed New York, NY McGraw-Hill 2001 3635-3668
-
(2001)
Gaucher Disease
, vol.8
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
2
-
-
34249662242
-
Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease
-
Weinreb N, Barranger J, Packman S et al. Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet 2007 71 576-588
-
(2007)
Clin Genet
, vol.71
, pp. 576-588
-
-
Weinreb, N.1
Barranger, J.2
Packman, S.3
-
3
-
-
0022410240
-
Skeletal complications of Gaucher disease
-
Stowens D W., Teitelbaum S L., Kahn A J. et al. Skeletal complications of Gaucher disease. Medicine 1985 64 310-322
-
(1985)
Medicine
, vol.64
, pp. 310-322
-
-
Stowens, D.W.1
Teitelbaum, S.L.2
Kahn, A.J.3
-
4
-
-
0032216634
-
Epigastrischer Gaucher-Zell-Pseudo-Tumor: Bildmorphologische und Histologische Charakteristika
-
Poll L W., Koch J A., Dahl S vom et al. Epigastrischer Gaucher-Zell-Pseudo-Tumor: Bildmorphologische und Histologische Charakteristika. Fortschr Röntgenstr 1998 169 669-672
-
(1998)
Fortschr Röntgenstr
, vol.169
, pp. 669-672
-
-
Poll, L.W.1
Koch, J.A.2
Dahl Vom, S.3
-
5
-
-
0033800292
-
Extraosseous manifestation of Gauchers disease type I: MR and histological appearance
-
Poll L W., Koch J A., Dahl S vom et al. Extraosseous manifestation of Gauchers disease type I: MR and histological appearance. Eur Radiol 2000 10 1660-1663
-
(2000)
Eur Radiol
, vol.10
, pp. 1660-1663
-
-
Poll, L.W.1
Koch, J.A.2
Dahl Vom, S.3
-
6
-
-
0034016432
-
Type i Gaucher disease: Extraosseous extension of skeletal disease
-
Poll L W., Koch J A., Dahl S vom et al. Type I Gaucher disease: extraosseous extension of skeletal disease. Skeletal Radiol 2000 29 15-21
-
(2000)
Skeletal Radiol
, vol.29
, pp. 15-21
-
-
Poll, L.W.1
Koch, J.A.2
Dahl Vom, S.3
-
8
-
-
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., Charrow J, Andersson H C. 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 113 112-119
-
(2002)
Am J Med
, vol.113
, pp. 112-119
-
-
Weinreb, N.J.1
Charrow, J.2
Andersson, H.C.3
-
9
-
-
0036308134
-
Correlation of bone marrow response with hematological, biochemical, and visceral responses to enzyme replacement therapy of nonneuronopathic (type 1) Gaucher disease in 30 adult patients
-
Poll L W., Koch J A., Willers R et al. Correlation of bone marrow response with hematological, biochemical, and visceral responses to enzyme replacement therapy of nonneuronopathic (type 1) Gaucher disease in 30 adult patients. Blood Cells Mol Dis 2002 28 209-220
-
(2002)
Blood Cells Mol Dis
, vol.28
, pp. 209-220
-
-
Poll, L.W.1
Koch, J.A.2
Willers, R.3
-
11
-
-
4744370348
-
Therapeutic goals in the treatment of Gaucher disease
-
Pastores G M., Weinreb N J., Aerts H et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004 4 4-14
-
(2004)
Semin Hematol
, vol.4
, pp. 4-14
-
-
Pastores, G.M.1
Weinreb, N.J.2
Aerts, H.3
-
12
-
-
4744358540
-
International Collaborative Gaucher Group (ICGG). Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients
-
Weinreb N J., Aggio M C., Andersson H C. et al. International Collaborative Gaucher Group (ICGG). Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004 41 15-22
-
(2004)
Semin Hematol
, vol.41
, pp. 15-22
-
-
Weinreb, N.J.1
Aggio, M.C.2
Andersson, H.C.3
-
13
-
-
33745728033
-
Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients
-
Vom Dahl S, Poll L, Di Rocco M et al. Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients. Curr Med Res Opin 2006 22 1045-1064
-
(2006)
Curr Med Res Opin
, vol.22
, pp. 1045-1064
-
-
Vom Dahl, S.1
Poll, L.2
Di Rocco, M.3
-
14
-
-
45849102732
-
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., Belmatoug N et al. Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherit Metab Dis 2008 31 319-336
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 319-336
-
-
Cox, T.M.1
Aerts, J.M.2
Belmatoug, N.3
-
15
-
-
20944439209
-
International Collaborative Gaucher Group U. S. Regional Coordinators. Individualization of long-term enzyme replacement therapy for Gaucher disease
-
Andersson H C., Charrow J, Kaplan P et al. International Collaborative Gaucher Group U. S. Regional Coordinators. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med 2005 7 105-110
-
(2005)
Genet Med
, vol.7
, pp. 105-110
-
-
Andersson, H.C.1
Charrow, J.2
Kaplan, P.3
-
16
-
-
78049382380
-
Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: First German long-term results
-
Poll L W., Koch J A., Dahl S vom et al. Magnetic resonance imaging of bone marrow changes in Gaucher disease during enzyme replacement therapy: first German long-term results. Skeletal Radiol 2001 29 563-571
-
(2001)
Skeletal Radiol
, vol.29
, pp. 563-571
-
-
Poll, L.W.1
Koch, J.A.2
Dahl Vom, S.3
-
17
-
-
0036073123
-
Response of Gaucher bone disease to enzyme replacement therapy
-
Poll L W., Maas M, Terk M R. et al. Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol 2002 75 A25-A36
-
(2002)
Br J Radiol
, vol.75
-
-
Poll, L.W.1
Maas, M.2
Terk, M.R.3
-
18
-
-
0036783707
-
Quantification of skeletal involvement in adults with type i Gauchers disease: Fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter
-
Maas M, Hollak C E., Akkerman E M. et al. Quantification of skeletal involvement in adults with type I Gauchers disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. Am J Roentgenol 2002 179 961-965
-
(2002)
Am J Roentgenol
, vol.179
, pp. 961-965
-
-
Maas, M.1
Hollak, C.E.2
Akkerman, E.M.3
-
19
-
-
0002174153
-
Report of the Committee of Staging and Nomenclature
-
News Letter
-
Gardeniers J WM. Report of the Committee of Staging and Nomenclature. ARCO 1993 5 79-82 News Letter
-
(1993)
ARCO
, vol.5
, pp. 79-82
-
-
Gardeniers, J.W.1
-
20
-
-
0027279191
-
MR imaging in adults with Gaucher disease type I: Evaluation of marrow involvement and disease activity
-
Hermann G, Shapiro R S., Abdelwahab I F. et al. MR imaging in adults with Gaucher disease type I: evaluation of marrow involvement and disease activity. Skeletal Radiol 1993 22 247-251
-
(1993)
Skeletal Radiol
, vol.22
, pp. 247-251
-
-
Hermann, G.1
Shapiro, R.S.2
Abdelwahab, I.F.3
-
21
-
-
0029155493
-
Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophage-targeted glucocerebrosidase
-
Rosenthal D I., Doppelt S H., Mankin H J. et al. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 1995 96 629-637
-
(1995)
Pediatrics
, vol.96
, pp. 629-637
-
-
Rosenthal, D.I.1
Doppelt, S.H.2
Mankin, H.J.3
-
22
-
-
46849109959
-
Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gauchers disease
-
DeMayo R F., Haims A H., McRae M C. et al. Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gauchers disease. Am J Roentgenol 2008 191 115-123
-
(2008)
Am J Roentgenol
, vol.191
, pp. 115-123
-
-
Demayo, R.F.1
Haims, A.H.2
McRae, M.C.3
-
23
-
-
0022447909
-
Evaluation of Gaucher disease using magnetic resonance imaging
-
Rosenthal D I., Scott J A., Barranger J et al. Evaluation of Gaucher disease using magnetic resonance imaging. J Bone Joint Surg Am 1986 68 802-808
-
(1986)
J Bone Joint Surg Am
, vol.68
, pp. 802-808
-
-
Rosenthal, D.I.1
Scott, J.A.2
Barranger, J.3
-
24
-
-
0029121363
-
MR imaging of patients with type 1 Gauchers disease: Relationship between bone and visceral changes
-
Terk M R., Esplin J, Lee K et al. MR imaging of patients with type 1 Gauchers disease: relationship between bone and visceral changes. Am J Roentgenol 1995 165 599-604
-
(1995)
Am J Roentgenol
, vol.165
, pp. 599-604
-
-
Terk, M.R.1
Esplin, J.2
Lee, K.3
-
25
-
-
42049119012
-
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. et al. 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. Clin Genet 2008 73 430-440
-
(2008)
Clin Genet
, vol.73
, pp. 430-440
-
-
Sims, K.B.1
Pastores, G.M.2
Weinreb, N.J.3
-
26
-
-
0032554169
-
First long-term results of imiglucerase therapy of type 1 Gaucher disease
-
Niederau C, Dahl S vom, Häussinger D. First long-term results of imiglucerase therapy of type 1 Gaucher disease. Eur J Med Res 1998 3 25-30
-
(1998)
Eur J Med Res
, vol.3
, pp. 25-30
-
-
Niederau, C.1
Dahl Vom, S.2
Häussinger, D.3
-
27
-
-
33745722913
-
Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: A 2-center retrospective analysis
-
Fost M de, Hollak C E., Groener J E. et al. Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis. Blood 2006 108 830-835
-
(2006)
Blood
, vol.108
, pp. 830-835
-
-
De Fost, M.1
Hollak, C.E.2
Groener, J.E.3
-
28
-
-
46849112025
-
Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy
-
Fost M de, Noesel C J., Aerts J M. et al. Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy. Haematologica 2008 93 1119-1120
-
(2008)
Haematologica
, vol.93
, pp. 1119-1120
-
-
De Fost, M.1
Noesel, C.J.2
Aerts, J.M.3
-
29
-
-
62149099925
-
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
-
Grabowski G van, Kacena K, Hollak C E. et al. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med 2009 11 92-100
-
(2009)
Genet Med
, vol.11
, pp. 92-100
-
-
Van, G.G.1
Kacena, K.2
Hollak, C.E.3
-
30
-
-
34249882193
-
Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gauchers disease using the bone marrow burden score
-
Robertson P L., Maas M, Goldblatt J. Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gauchers disease using the bone marrow burden score. Am J Roentgenol 2007 188 1521-1528
-
(2007)
Am J Roentgenol
, vol.188
, pp. 1521-1528
-
-
Robertson, P.L.1
Maas, M.2
Goldblatt, J.3
|