-
1
-
-
0000216808
-
The Metabolic and Molecular Basis of Inherited Disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds., New York, NY, McGraw-Hill
-
Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. New York, NY: McGraw-Hill; 2001. pp 3635-3668.
-
(2001)
Gaucher disease
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
2
-
-
24644466574
-
Survey of hematological aspects of Gaucher disease
-
Zimran A, Altarescu G, Rudensky B, et al. 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, B.3
-
3
-
-
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
-
4
-
-
0031292176
-
Gaucher disease: Gene frequencies and genotype/phenotype correlations
-
Grabowski GA. Gaucher disease: Gene frequencies and genotype/phenotype correlations. Genet Test 1997; 1: 5-12.
-
(1997)
Genet Test
, vol.1
, pp. 5-12
-
-
Grabowski, G.A.1
-
5
-
-
7344232563
-
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population
-
Horowitz M, Pasmanik-Chor M, Borochowitz Z, et al. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Hum Mutat 1998; 12: 240-244.
-
(1998)
Hum Mutat
, vol.12
, pp. 240-244
-
-
Horowitz, M.1
Pasmanik-Chor, M.2
Borochowitz, Z.3
-
6
-
-
0034626360
-
The Gaucher registry: Demographics and disease characteristics of 1698 patients with Gaucher disease
-
Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry: Demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 2000; 160: 2835-2843.
-
(2000)
Arch Intern Med
, vol.160
, pp. 2835-2843
-
-
Charrow, J.1
Andersson, H.C.2
Kaplan, P.3
-
7
-
-
33646469725
-
Phenotype variations in Gaucher disease
-
Mistry P, Germain DP. Phenotype variations in Gaucher disease. Rev Med Interne 2006; 27( Suppl 1): S3-S10.
-
(2006)
Rev Med Interne
, vol.27
, Issue.SUPPL. 1
-
-
Mistry, P.1
Germain, D.P.2
-
8
-
-
34547660165
-
Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention
-
Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 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
-
9
-
-
64549119033
-
The under-recognized progressive nature of N370S Gaucher disease and high risk of cancer in 403 patients
-
Taddei TH, Kacena KA, Yang M, et al. The under-recognized progressive nature of N370S Gaucher disease and high risk of cancer in 403 patients. Am J Hematol 2009; 84: 208-214.
-
(2009)
Am J Hematol
, vol.84
, pp. 208-214
-
-
Taddei, T.H.1
Kacena, K.A.2
Yang, M.3
-
10
-
-
33744957572
-
The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis
-
Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006; 160: 603-608.
-
(2006)
Arch Pediatr Adolesc Med
, vol.160
, pp. 603-608
-
-
Kaplan, P.1
Andersson, H.C.2
Kacena, K.A.3
Yee, J.D.4
-
11
-
-
0026465017
-
Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients
-
Zimran A, Kay A, Gelbart T, et al. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore) 1992; 71: 337-353.
-
(1992)
Medicine (Baltimore)
, vol.71
, pp. 337-353
-
-
Zimran, A.1
Kay, A.2
Gelbart, T.3
-
12
-
-
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: 112-119.
-
(2002)
Am J Med
, vol.113
, pp. 112-119
-
-
Weinreb, N.J.1
Charrow, J.2
Andersson, H.C.3
-
13
-
-
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
-
14
-
-
33845933154
-
Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease
-
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: 119-126.
-
(2007)
J Bone Miner Res
, vol.22
, pp. 119-126
-
-
Wenstrup, R.J.1
Kacena, K.A.2
Kaplan, P.3
-
15
-
-
33847274180
-
The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease
-
Charrow J, Dulisse B, Grabowski GA, Weinreb NJ. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet 2007; 71: 205-211.
-
(2007)
Clin Genet
, vol.71
, pp. 205-211
-
-
Charrow, J.1
Dulisse, B.2
Grabowski, G.A.3
Weinreb, N.J.4
-
16
-
-
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 KB, Pastores GM, Weinreb NJ, 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
-
17
-
-
70350451759
-
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: Effect on incidence of avascular necrosis
-
Mistry PK, Deegan P, Vellodi A, et al. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: Effect on incidence of avascular necrosis. Br J Haematol 2009; 147: 561-570.
-
(2009)
Br J Haematol
, vol.147
, pp. 561-570
-
-
Mistry, P.K.1
Deegan, P.2
Vellodi, A.3
-
18
-
-
78049511066
-
Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease
-
2010 Aug 18. [Epub ahead of print]
-
Elstein D, Cohn GM, Wang N, et al. Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease. Blood Cells Mol Dis. 2010 Aug 18. [Epub ahead of print]
-
Blood Cells Mol Dis
-
-
Elstein, D.1
Cohn, G.M.2
Wang, N.3
-
19
-
-
78650368615
-
-
US National Institutes of Health. NCT01132690: A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease; NCT00712348: Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase; NCT00376168: A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease; NCT00962260: Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease. Available at: Last accessed Oct 2010.
-
US National Institutes of Health. NCT01132690: A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease; NCT00712348: Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase; NCT00376168: A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease; NCT00962260: Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease. Available at: Last accessed Oct 2010.
-
-
-
-
20
-
-
78650401253
-
-
Zavesca Summary of Product Characteristics Accessible at: Last accessed October 2010.
-
Zavesca Summary of Product Characteristics Accessible at: Last accessed October 2010.
-
-
-
-
21
-
-
27644539470
-
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease
-
Weinreb NJ, Barranger JA, Charrow J, et al. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. Am J Hematol 2005; 80: 223-229.
-
(2005)
Am J Hematol
, vol.80
, pp. 223-229
-
-
Weinreb, N.J.1
Barranger, J.A.2
Charrow, J.3
-
22
-
-
77954538917
-
A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1
-
Lukina E, Watman N, Arreguin EA, et al. A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1. Blood 2010; 116: 893-899.
-
(2010)
Blood
, vol.116
, pp. 893-899
-
-
Lukina, E.1
Watman, N.2
Arreguin, E.A.3
-
23
-
-
77957551053
-
Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: Two-year results of a Phase 2 study
-
2010 Aug 16. [Epub ahead of print]
-
Lukina E, Watman N, Avila Arreguin E, et al. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: Two-year results of a Phase 2 study. Blood. 2010 Aug 16. [Epub ahead of print]
-
Blood
-
-
Lukina, E.1
Watman, N.2
Avila Arreguin, E.3
-
24
-
-
33646488206
-
Therapeutic goals in Gaucher disease
-
Mistry P, Germain DP. Therapeutic goals in Gaucher disease. Rev Med Interne 2006; 27( Suppl 1): S30-S38.
-
(2006)
Rev Med Interne
, vol.27
, Issue.SUPPL. 1
-
-
Mistry, P.1
Germain, D.P.2
-
25
-
-
34548175657
-
Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease
-
Hughes D, Cappellini MD, Berger M, et al. Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease. Br J Haematol 2007; 138: 676-686.
-
(2007)
Br J Haematol
, vol.138
, pp. 676-686
-
-
Hughes, D.1
Cappellini, M.D.2
Berger, M.3
-
26
-
-
78049440186
-
Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish genetic diseases
-
2010 Jul 29. [Epub ahead of print]
-
Scott SA, Edelmann L, Liu L, et al. Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish genetic diseases. Hum Mutat. 2010 Jul 29. [Epub ahead of print]
-
Hum Mutat
-
-
Scott, S.A.1
Edelmann, L.2
Liu, L.3
-
27
-
-
0020014944
-
Gaucher Disease: A Century of Delineation and Research
-
Desnick RJ, Grabowski GA, editors., New York, NY, Alan R Liss Inc.
-
Lee RE. The pathology of Gaucher disease. In: Desnick RJ, Grabowski GA, editors. Gaucher Disease: A Century of Delineation and Research. New York, NY: Alan R Liss Inc.; 1982. pp 177-217.
-
(1982)
The pathology of Gaucher disease
, pp. 177-217
-
-
Lee, R.E.1
-
28
-
-
0027277054
-
Increased risk of cancer in patients with Gaucher disease
-
Shiran A, Brenner B, Laor A, Tatarsky I. Increased risk of cancer in patients with Gaucher disease. Cancer 1993; 72: 219-224.
-
(1993)
Cancer
, vol.72
, pp. 219-224
-
-
Shiran, A.1
Brenner, B.2
Laor, A.3
Tatarsky, I.4
-
29
-
-
18844388455
-
Gaucher disease and cancer incidence: A study from the Gaucher Registry
-
Rosenbloom BE, Weinreb NJ, Zimran A, et al. Gaucher disease and cancer incidence: A study from the Gaucher Registry. Blood 2005; 105: 4569-4572.
-
(2005)
Blood
, vol.105
, pp. 4569-4572
-
-
Rosenbloom, B.E.1
Weinreb, N.J.2
Zimran, A.3
-
30
-
-
18844449947
-
Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic
-
Zimran A, Liphshitz I, Barchana M, et al. Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cells Mol Dis 2005; 34: 197-200.
-
(2005)
Blood Cells Mol Dis
, vol.34
, pp. 197-200
-
-
Zimran, A.1
Liphshitz, I.2
Barchana, M.3
-
31
-
-
30344488170
-
Increased incidence of cancer in adult Gaucher disease in Western Europe
-
de Fost M, Vom Dahl S, Weverling GJ, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis 2006; 36: 53-58.
-
(2006)
Blood Cells Mol Dis
, vol.36
, pp. 53-58
-
-
de Fost, M.1
Vom Dahl, S.2
Weverling, G.J.3
-
32
-
-
64549163635
-
Enzyme, substrate and myeloma in Gaucher disease
-
Hughes DA. Enzyme, substrate and myeloma in Gaucher disease. Amer J Hematol 2009; 84: 199-201.
-
(2009)
Amer J Hematol
, vol.84
, pp. 199-201
-
-
Hughes, D.A.1
-
33
-
-
78650359920
-
-
Israel National Cancer Registry (Israel). Available at: Cancer Statistics. Last accessed October 2010.
-
Israel National Cancer Registry (Israel). Available at: Cancer Statistics. Last accessed October 2010.
-
-
-
-
34
-
-
33750736318
-
Screening for factor XI deficiency amongst pregnant women of Ashkenazi Jewish origin
-
Kadir RA, Kingman CE, Chi C, et al. Screening for factor XI deficiency amongst pregnant women of Ashkenazi Jewish origin. Haemophilia 2006; 12: 625-628.
-
(2006)
Haemophilia
, vol.12
, pp. 625-628
-
-
Kadir, R.A.1
Kingman, C.E.2
Chi, C.3
-
36
-
-
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(4 Suppl 5 ): 4-14.
-
(2004)
Semin Hematol
, vol.41
, Issue.4 SUPPL. 5
, pp. 4-14
-
-
Pastores, G.M.1
Weinreb, N.J.2
Aerts, H.3
-
37
-
-
45849102732
-
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
-
Cox TM, Aerts JM, 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
-
38
-
-
79952602089
-
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy
-
2010 Aug 4. [Epub ahead of print]
-
Stein P, Malhotra A, Haims A, et al. Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy. J Inherit Metab Dis. 2010 Aug 4. [Epub ahead of print]
-
J Inherit Metab Dis
-
-
Stein, P.1
Malhotra, A.2
Haims, A.3
-
39
-
-
17744421004
-
Gaucher disease: Recommendations on diagnosis, evaluation, and monitoring
-
Charrow J, Esplin JA, Gribble TJ, et al. Gaucher disease: Recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 1998; 158: 1754-1760.
-
(1998)
Arch Intern Med
, vol.158
, pp. 1754-1760
-
-
Charrow, J.1
Esplin, J.A.2
Gribble, T.J.3
-
40
-
-
4744343655
-
Gaucher disease: Complexity in a "simple" disorder
-
Sidransky E. Gaucher disease: Complexity in a "simple" disorder. Mol Genet Metab 2004; 83: 6-15.
-
(2004)
Mol Genet Metab
, vol.83
, pp. 6-15
-
-
Sidransky, E.1
-
42
-
-
34547553709
-
Pseudo-Gaucher cell proliferation associated with myelodysplastic syndrome
-
Saito T, Usui N, Asai O, et al. Pseudo-Gaucher cell proliferation associated with myelodysplastic syndrome. Int J Hematol 2007; 85: 350-353.
-
(2007)
Int J Hematol
, vol.85
, pp. 350-353
-
-
Saito, T.1
Usui, N.2
Asai, O.3
-
43
-
-
0030948432
-
Frequency of pseudo-Gaucher cells in diagnostic bone marrow biopsies from patients with Ph-positive chronic myeloid leukaemia
-
Büsche G, Majewski H, Schlué J, et al. Frequency of pseudo-Gaucher cells in diagnostic bone marrow biopsies from patients with Ph-positive chronic myeloid leukaemia. Virchows Arch 1997; 430: 139-148.
-
(1997)
Virchows Arch
, vol.430
, pp. 139-148
-
-
Büsche, G.1
Majewski, H.2
Schlué, J.3
-
44
-
-
0026510512
-
Fatal respiratory failure caused by pulmonary infiltration by pseudo-Gaucher cells
-
Links TP, Karrenbeld A, Steensma JT, et al. Fatal respiratory failure caused by pulmonary infiltration by pseudo-Gaucher cells. Chest 1992; 101: 265-266.
-
(1992)
Chest
, vol.101
, pp. 265-266
-
-
Links, T.P.1
Karrenbeld, A.2
Steensma, J.T.3
-
45
-
-
26244455180
-
Pseudo-Gaucher cells in mycobacterial infection: A report of two cases
-
Dunn P, Kuo MC, Sun CF. Pseudo-Gaucher cells in mycobacterial infection: A report of two cases. J Clin Pathol 2005; 58: 1113-1114.
-
(2005)
J Clin Pathol
, vol.58
, pp. 1113-1114
-
-
Dunn, P.1
Kuo, M.C.2
Sun, C.F.3
-
46
-
-
77953043366
-
Pseudo-Gaucher cells in sickle cell anemia
-
Bain BJ, Lee L. Pseudo-Gaucher cells in sickle cell anemia. Amer J Hematol 2010; 85: 435.
-
(2010)
Amer J Hematol
, vol.85
, pp. 435
-
-
Bain, B.J.1
Lee, L.2
-
47
-
-
4744358540
-
Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients
-
Weinreb NJ, Aggio MC, Andersson HC, et al. Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004; 41(4 Suppl 5 ): 15-22.
-
(2004)
Semin Hematol
, vol.41
, Issue.4 SUPPL. 5
, pp. 15-22
-
-
Weinreb, N.J.1
Aggio, M.C.2
Andersson, H.C.3
-
48
-
-
41049104711
-
Biomarkers for lysosomal storage disorders: Identification and application as exemplified by chitotriosidase in Gaucher disease
-
Aerts JM, Breemen MJ, Bussink AP, et al. Biomarkers for lysosomal storage disorders: Identification and application as exemplified by chitotriosidase in Gaucher disease. Acta Paediatr Suppl 2008; 97: 7-14.
-
(2008)
Acta Paediatr Suppl
, vol.97
, pp. 7-14
-
-
Aerts, J.M.1
Breemen, M.J.2
Bussink, A.P.3
-
49
-
-
77954910427
-
Hyperferritinemia and iron overload in type 1 Gaucher disease
-
Stein P, Yu H, Jain D, Mistry PK. Hyperferritinemia and iron overload in type 1 Gaucher disease. Am J Hematol 2010; 85: 472-476.
-
(2010)
Am J Hematol
, vol.85
, pp. 472-476
-
-
Stein, P.1
Yu, H.2
Jain, D.3
Mistry, P.K.4
-
50
-
-
20944439209
-
Individualization of long-term enzyme replacement therapy for Gaucher disease
-
International Collaborative Gaucher Group U.S. Regional Coordinators.
-
Andersson HC, 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
-
51
-
-
48749087616
-
A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease
-
Di Rocco M, Giona F, Carubbi F, et al. A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease. Haematologica 2008; 93: 1211-1218.
-
(2008)
Haematologica
, vol.93
, pp. 1211-1218
-
-
Di Rocco, M.1
Giona, F.2
Carubbi, F.3
-
52
-
-
75649128684
-
A validated disease severity scoring system for adults with type 1 Gaucher disease
-
Weinreb NJ, Cappellini MD, Cox TM, et al. A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med 2010; 12: 44-51.
-
(2010)
Genet Med
, vol.12
, pp. 44-51
-
-
Weinreb, N.J.1
Cappellini, M.D.2
Cox, T.M.3
-
53
-
-
35248885136
-
A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease
-
Davies EH, Surtees R, DeVile C, et al. A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease. J Inherit Metab Dis 2007; 30: 768-782.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 768-782
-
-
Davies, E.H.1
Surtees, R.2
DeVile, C.3
-
54
-
-
70350304844
-
Management of neuronopathic Gaucher disease: Revised recommendations
-
Vellodi A, Tylki-Szymanska A, Davies EH, et al. Management of neuronopathic Gaucher disease: Revised recommendations. J Inherit Metab Dis 2009; 32: 660-664.
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 660-664
-
-
Vellodi, A.1
Tylki-Szymanska, A.2
Davies, E.H.3
-
55
-
-
56749172489
-
Life expectancy in Gaucher disease type 1
-
Weinreb NJ, Deegan P, Kacena KA, et al. Life expectancy in Gaucher disease type 1. Am J Hematol 2008; 83: 896-900.
-
(2008)
Am J Hematol
, vol.83
, pp. 896-900
-
-
Weinreb, N.J.1
Deegan, P.2
Kacena, K.A.3
-
56
-
-
56749130566
-
A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase
-
Weinreb N, Taylor J, Cox T, et al. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. Amer J Hematol 2008; 83: 890-895.
-
(2008)
Amer J Hematol
, vol.83
, pp. 890-895
-
-
Weinreb, N.1
Taylor, J.2
Cox, T.3
-
57
-
-
62149099925
-
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
-
Grabowski G, Kacena K, Hollak CE, 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
-
-
Grabowski, G.1
Kacena, K.2
Hollak, C.E.3
-
58
-
-
0036399154
-
Pulmonary hypertension in type 1 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 1 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
-
60
-
-
27844605147
-
Divergent phenotypes in Gaucher disease implicate the role of modifiers
-
Goker-Alpan O, Hruska KS, Orvisky E, et al. Divergent phenotypes in Gaucher disease implicate the role of modifiers. J Med Genet 2005; 42: e37.
-
(2005)
J Med Genet
, vol.42
-
-
Goker-Alpan, O.1
Hruska, K.S.2
Orvisky, E.3
-
61
-
-
77953229340
-
The risk of Parkinson's disease in type 1 Gaucher disease
-
Bultron G, Kacena K, Pearson D, et al. The risk of Parkinson's disease in type 1 Gaucher disease. J Inherit Metab Dis 2010; 33: 167-173.
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 167-173
-
-
Bultron, G.1
Kacena, K.2
Pearson, D.3
-
62
-
-
54049097933
-
The spectrum of Parkinsonian manifestations associated with glucocerebrosidase mutations
-
Goker-Alpan O, Lopez G, Vithayathil J, et al. The spectrum of Parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol 2008; 65: 1353-1357.
-
(2008)
Arch Neurol
, vol.65
, pp. 1353-1357
-
-
Goker-Alpan, O.1
Lopez, G.2
Vithayathil, J.3
-
63
-
-
27644455088
-
Mutations in the glucocerebrosidase gene and Parkinson disease: Phenotype-genotype correlation
-
Aharon-Peretz J, Badarny S, Rosenbaum H, et al. Mutations in the glucocerebrosidase gene and Parkinson disease: Phenotype-genotype correlation. Neurology 2005; 65: 1460-1461.
-
(2005)
Neurology
, vol.65
, pp. 1460-1461
-
-
Aharon-Peretz, J.1
Badarny, S.2
Rosenbaum, H.3
-
64
-
-
33751040151
-
Glucosylceramide transfer from lysosomes-The missing link in molecular pathology of glucosylceramidase deficiency: A hypothesis based on existing data
-
Elleder M. Glucosylceramide transfer from lysosomes-The missing link in molecular pathology of glucosylceramidase deficiency: A hypothesis based on existing data. J Inherit Metab Dis 2006; 29: 707-715.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 707-715
-
-
Elleder, M.1
-
65
-
-
0037007404
-
Gaucher's disease with myocardial involvement in pregnancy
-
Torloni MR, Franco K, Sass N. Gaucher's disease with myocardial involvement in pregnancy. Sao Paulo Med J 2002; 120: 90-92.
-
(2002)
Sao Paulo Med J
, vol.120
, pp. 90-92
-
-
Torloni, M.R.1
Franco, K.2
Sass, N.3
-
66
-
-
38849110222
-
Neurological evaluation of patients with Gaucher disease diagnosed as type 1
-
Spanish Group on Gaucher disease.
-
Capablo JL, Saenz de Cabezón A, Fraile J, et al.Spanish Group on Gaucher disease. Neurological evaluation of patients with Gaucher disease diagnosed as type 1. J Neurol Neurosurg Psychiatry 2008; 79: 219-222.
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, pp. 219-222
-
-
Capablo, J.L.1
Saenz de Cabezón, A.2
Fraile, J.3
-
68
-
-
78650313100
-
GBA1 deficiency in the mouse recapitulates Gaucher disease displaying system-wide cellular and molecular dysregulation beyond the macrophage
-
Mistry PK, Liu J, Yang M, et al. GBA1 deficiency in the mouse recapitulates Gaucher disease displaying system-wide cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci USA, in press.
-
Proc Natl Acad Sci USA
-
-
Mistry, P.K.1
Liu, J.2
Yang, M.3
-
69
-
-
33745242833
-
AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease
-
McEachern KA, Nietupski JB, Chuang WL, et al. AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease. J Gene Med 2006; 8: 719-729.
-
(2006)
J Gene Med
, vol.8
, pp. 719-729
-
-
McEachern, K.A.1
Nietupski, J.B.2
Chuang, W.L.3
-
70
-
-
50249175120
-
Chemical and biological approaches synergize to ameliorate protein-folding diseases
-
Mu TW, Ong DS, Wang YJ, et al. Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell 2008; 134: 769-781.
-
(2008)
Cell
, vol.134
, pp. 769-781
-
-
Mu, T.W.1
Ong, D.S.2
Wang, Y.J.3
-
71
-
-
34249306894
-
A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease
-
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: 259-267.
-
(2007)
Mol Genet Metab
, vol.91
, pp. 259-267
-
-
McEachern, K.A.1
Fung, J.2
Komarnitsky, S.3
-
72
-
-
0036155174
-
Gaucher and Niemann-Pick diseases-Enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards
-
Chamoles NA, Blanco M, Gaggioli D, Casentini C. Gaucher and Niemann-Pick diseases-Enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta 2002; 317: 191-197.
-
(2002)
Clin Chim Acta
, vol.317
, pp. 191-197
-
-
Chamoles, N.A.1
Blanco, M.2
Gaggioli, D.3
Casentini, C.4
-
73
-
-
54049156764
-
An improved high-throughput dried blood spot screening method for Gaucher disease
-
Olivova P, Cullen E, Titlow M, et al. An improved high-throughput dried blood spot screening method for Gaucher disease. Clin Chim Acta 2008; 398: 163-164.
-
(2008)
Clin Chim Acta
, vol.398
, pp. 163-164
-
-
Olivova, P.1
Cullen, E.2
Titlow, M.3
|