-
1
-
-
0031436478
-
Gaucher's disease: Clinical features and natural history
-
Zimran A, ed. London: Baillère-Tindall
-
Cox TM, Schofield JP (1997) Gaucher's disease: Clinical features and natural history. In: Zimran A, ed. Baillière's Clinical Haematology: Gaucher's Disease. London: Baillère-Tindall, 657-689.
-
(1997)
Baillière's Clinical Haematology: Gaucher's Disease
, pp. 657-689
-
-
Cox, T.M.1
Schofield, J.P.2
-
2
-
-
0034728914
-
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox TM, Lachmann R, Hollak C, et al (2000) Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355(9214): 1481-1485.
-
(2000)
Lancet
, vol.355
, Issue.9214
, pp. 1481-1485
-
-
Cox, T.M.1
Lachmann, R.2
Hollak, C.3
-
3
-
-
10744226382
-
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type 1 (non-neuronopathic) Gaucher disease: A position statement
-
Cox TM, Aerts JMFG, Andria G, et al (2003) The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type 1 (non-neuronopathic) Gaucher disease: A position statement. J Inherit Metab Dis 26: 513-526.
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 513-526
-
-
Cox, T.M.1
Aerts, J.M.F.G.2
Andria, G.3
-
4
-
-
0030221533
-
Effect of low-dose ERT on bones in Gaucher disease patients with severe skeletal involvement
-
Elstein D, Hadas-Halpern I, Itzchaki M, et al (1996) Effect of low-dose ERT on bones in Gaucher disease patients with severe skeletal involvement. Blood Cells Mol Dis 22:104-111.
-
(1996)
Blood Cells Mol. Dis.
, vol.22
, pp. 104-111
-
-
Elstein, D.1
Hadas-Halpern, I.2
Itzchaki, M.3
-
5
-
-
0028220472
-
Marked elevation of plasma chitotriosidase activity: A novel hallmark of Gaucher disease
-
Hollak C, van Weely S, van Oers MH, Aerts J (1994) Marked elevation of plasma chitotriosidase activity: A novel hallmark of Gaucher disease. J Clin Invest 93: 1288-1292.
-
(1994)
J. Clin. Invest.
, vol.93
, pp. 1288-1292
-
-
Hollak, C.1
van Weely, S.2
van Oers, M.H.3
Aerts, J.4
-
6
-
-
0035152361
-
Clinically relevant therapeutic endpoints in type 1 Gaucher disease
-
Hollak CEM, Maas JM, Aerts JM (2001) Clinically relevant therapeutic endpoints in type 1 Gaucher disease. J Inherit Metab Dis 24 (supplement 2): 97-105.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, Issue.SUPPL. 2
, pp. 97-105
-
-
Hollak, C.E.M.1
Maas, J.M.2
Aerts, J.M.3
-
7
-
-
0026529111
-
Quantitative chemical shift imaging of vertebral bone marrow in patients with Gaucher disease
-
Johnson LA, Hoppel BE, Gerard EL, et al (1992) Quantitative chemical shift imaging of vertebral bone marrow in patients with Gaucher disease. Radiology 182(2): 451-455.
-
(1992)
Radiology
, vol.182
, Issue.2
, pp. 451-455
-
-
Johnson, L.A.1
Hoppel, B.E.2
Gerard, E.L.3
-
8
-
-
0034819999
-
Dixon quantitative chemical shift MRI for bone marrow evaluation in the lumbar spine: A reproducibility study in healthy volunteers
-
Maas M, Akkerman EM, Venema HW, Stoker J, Den Heeten GJ (2001) Dixon quantitative chemical shift MRI for bone marrow evaluation in the lumbar spine: A reproducibility study in healthy volunteers. J Comput Assist Tomogr 25: 691-697.
-
(2001)
J. Comput. Assist. Tomogr.
, vol.25
, pp. 691-697
-
-
Maas, M.1
Akkerman, E.M.2
Venema, H.W.3
Stoker, J.4
Den Heeten, G.J.5
-
9
-
-
0036783707
-
Quantification of skeletal involvement in adults with type I Gaucher's disease: Fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter
-
Maas M, Hollak CE, Akkerman EM, Aerts JM, Stoker J, Den Heeten GJ (2002) Quantification of skeletal involvement in adults with type I Gaucher's disease: Fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. Am J Roentgenol 179(4): 961-965.
-
(2002)
Am. J. Roentgenol.
, vol.179
, Issue.4
, pp. 961-965
-
-
Maas, M.1
Hollak, C.E.2
Akkerman, E.M.3
Aerts, J.M.4
Stoker, J.5
Den Heeten, G.J.6
-
10
-
-
0030117438
-
Analysis of the lipids of normal and Gaucher bone marrow
-
Miller SP, Zirzow GC, Doppelt SH, Brady RO, Barton NW (1996) Analysis of the lipids of normal and Gaucher bone marrow. J Lab Clin Med 127(4): 353-358.
-
(1996)
J. Lab. Clin. Med.
, vol.127
, Issue.4
, pp. 353-358
-
-
Miller, S.P.1
Zirzow, G.C.2
Doppelt, S.H.3
Brady, R.O.4
Barton, N.W.5
-
11
-
-
0028176432
-
N-Butyldeoxynojirimycin is a novel inhibitor of glycolipid synthesis
-
Platt F, Neises GR, Dwek R, Butters T (1994) N Butyldeoxynojirimycin is a novel inhibitor of glycolipid synthesis. J Biol Chem 269(11): 8362-8365.
-
(1994)
J. Biol. Chem.
, vol.269
, Issue.11
, pp. 8362-8365
-
-
Platt, F.1
Neises, G.R.2
Dwek, R.3
Butters, T.4
-
12
-
-
0030937840
-
Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin
-
Platt F, Neises GR, Reinkensmeier G, et al (1997) Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science 276: 428-431.
-
(1997)
Science
, vol.276
, pp. 428-431
-
-
Platt, F.1
Neises, G.R.2
Reinkensmeier, G.3
-
13
-
-
0038777080
-
Substrate reduction therapy in mouse models of the glycosphingolipidoses
-
Platt F, Jeyakumar M, Andersson U, et al (2003) Substrate reduction therapy in mouse models of the glycosphingolipidoses. Phil Trans R Soc Lond B 358: 947-954.
-
(2003)
Phil. Trans. R. Soc. Lond. B
, vol.358
, pp. 947-954
-
-
Platt, F.1
Jeyakumar, M.2
Andersson, U.3
-
14
-
-
0034912891
-
Management of neuronopathic Gaucher disease: A European consensus
-
Vellodi A, Bembi B, de Villemeur TB, et al (2001) Management of neuronopathic Gaucher disease: A European consensus. J Inherit Metab Dis 24(3): 319-327.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, Issue.3
, pp. 319-327
-
-
Vellodi, A.1
Bembi, B.2
de Villemeur, T.B.3
|