-
1
-
-
0000216808
-
Gaucher disease
-
In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds), 8th ed. New York, NY: McGraw-Hill
-
Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Valle D, Sly WS (eds). The Metabolic and Molecular Bases of Inherited Disease, 8th ed. 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.A.2
-
2
-
-
2342633338
-
Lysosomal storage diseases
-
In: Braunwald E, Fauci AS (eds), 15th ed. New York, NY: McGraw-Hill
-
Grabowski GA. Lysosomal storage diseases. In: Braunwald E, Fauci AS (eds). Harrison's Principles of Internal Medicine, 15th ed. New York, NY: McGraw-Hill. 2001; 2276-2281.
-
(2001)
Harrison's Principles of Internal Medicine
, pp. 2276-2281
-
-
Grabowski, G.A.1
-
3
-
-
24644466574
-
Survey of hematological aspects of Gaucher disease
-
Zimran A, Altarescu G, Rudensky G, Abrahamov A, Elstein D. Survey of hematological aspects of Gaucher disease. Hematology. 2005;10:151-156.
-
(2005)
Hematology
, vol.10
, pp. 151-156
-
-
Zimran, A.1
Altarescu, G.2
Rudensky, G.3
Abrahamov, A.4
Elstein, D.5
-
4
-
-
0034035946
-
Massive hepatic fibrosis in Gaucher's disease: Clinico-pathological and radiological features
-
Lachmann RH, Wight DG, Lomas DJ et al. Massive hepatic fibrosis in Gaucher's disease: Clinico-pathological and radiological features. QJM. 2000;93:237-244.
-
(2000)
QJM
, vol.93
, pp. 237-244
-
-
Lachmann, R.H.1
Wight, D.G.2
Lomas, D.J.3
-
5
-
-
0031436478
-
Gaucher's disease: Clinical features and natural history
-
Cox TM, Schofield JP. Gaucher's disease: Clinical features and natural history. Baillieres Clin Haematol. 1997;10:657-689.
-
(1997)
Baillieres Clin Haematol
, vol.10
, pp. 657-689
-
-
Cox, T.M.1
Schofield, J.P.2
-
6
-
-
0036399154
-
Pulmonary hypertension in type I Gaucher's disease: Genetic and epigenetic determinants of phenotype and response to therapy
-
Mistry PK, Sirrs S, Chan A et al. Pulmonary hypertension in type I Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab. 2002;77:91-98.
-
(2002)
Mol Genet Metab
, vol.77
, pp. 91-98
-
-
Mistry, P.K.1
Sirrs, S.2
Chan, A.3
-
8
-
-
4744370348
-
Therapeutic goals in the treatment of Gaucher disease
-
Pastores GM, Weinreb NJ, Aerts H et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(Suppl.5):4-14.
-
(2004)
Semin Hematol
, vol.41
, Issue.SUPPL. 5
, pp. 4-14
-
-
Pastores, G.M.1
Weinreb, N.J.2
Aerts, H.3
-
9
-
-
34547660165
-
Consequences of diagnostic delays in type I Gaucher disease: The need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention
-
Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences of diagnostic delays in type I Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am. J. Hematol. 2007;82:697-701.
-
(2007)
Am. J. Hematol.
, vol.82
, pp. 697-701
-
-
Mistry, P.K.1
Sadan, S.2
Yang, R.3
Yee, J.4
Yang, M.5
-
10
-
-
0038342836
-
Rapid genetic testing for Gaucher disease by reverse hybridization
-
Halsall DJ, Kriegshauser G, Moritz A, Elsey TS, Oberkanins C. Rapid genetic testing for Gaucher disease by reverse hybridization. Ann Clin Biochem. 2003;40:419-421.
-
(2003)
Ann Clin Biochem
, vol.40
, pp. 419-421
-
-
Halsall, D.J.1
Kriegshauser, G.2
Moritz, A.3
Elsey, T.S.4
Oberkanins, C.5
-
11
-
-
9144222696
-
Marked elevation of the chemokine CCL18//PARC in Gaucher disease: A novel surrogate marker for assessing therapeutic intervention
-
Boot RG, Verhoek M, de Fost M, Hollak CE, Maas M, Bleijlevens B. Marked elevation of the chemokine CCL18//PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood. 2004;103:33-39.
-
(2004)
Blood
, vol.103
, pp. 33-39
-
-
Boot, R.G.1
Verhoek, M.2
de Fost, M.3
Hollak, C.E.4
Maas, M.5
Bleijlevens, B.6
-
12
-
-
85009313792
-
Chitotriosidase as a marker of treatment regularity: A case report
-
Paris, France - April 10-12, Gaucher disease
-
Sokolowska B, Skomra D, Czartoryska B et al. Chitotriosidase as a marker of treatment regularity: a case report. Fifth International Symposium on Lysosomal Storage Disorders. Paris, France - April 10-12, 2008. Gaucher disease p 22.
-
(2008)
Fifth International Symposium on Lysosomal Storage Disorders
, pp. 22
-
-
Sokolowska, B.1
Skomra, D.2
Czartoryska, B.3
|