-
1
-
-
5344267436
-
The clinical presentation of lysosomal storage disorders
-
Wraith JE: The clinical presentation of lysosomal storage disorders. Acta Neurol Taiwan 2004; 13: 101-106.
-
(2004)
Acta Neurol Taiwan
, vol.13
, pp. 101-106
-
-
Wraith, J.E.1
-
2
-
-
50549198437
-
Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease
-
Brady RO, Kanfer JN, Shapiro D: Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 1965; 18: 221-225.
-
(1965)
Biochem Biophys Res Commun
, vol.18
, pp. 221-225
-
-
Brady, R.O.1
Kanfer, J.N.2
Shapiro, D.3
-
3
-
-
0000216808
-
Gaucher disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds) New York 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, ed 8. New York, McGraw-Hill, 2001, vol III, pp 3635-3668.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease, Ed 8.
, vol.3
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.A.2
-
4
-
-
0001211738
-
Glucosylceramidelipidoses: Gaucher disease
-
Scriver CR, Beaudet AL, Sly WS (eds) New York, McGrew-Hill
-
Beutler E, Grabowski G: Glucosylceramidelipidoses: Gaucher disease; in Scriver CR, Beaudet AL, Sly WS (eds): The Metabolic and Molecular Bases of Inherited Diseases. New York, McGrew-Hill, 1995, pp 2641-2670.
-
(1995)
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 2641-2670
-
-
Beutler, E.1
Grabowski, G.2
-
5
-
-
0033005150
-
Differential effects of glycolipid biosynthesis inhibitors on ceramide-induced cell death in neuroblastoma cells
-
Bieberich E, Freischutz B, Suzuki M, et al: Differential effects of glycolipid biosynthesis inhibitors on ceramide-induced cell death in neuroblastoma cells. J Neurochem 1999; 72: 1040-1049.
-
(1999)
J Neurochem
, vol.72
, pp. 1040-1049
-
-
Bieberich, E.1
Freischutz, B.2
Suzuki, M.3
-
6
-
-
28544446111
-
Monocyte and macrophage heterogeneity
-
Gordon S, Taylor PR: Monocyte and macrophage heterogeneity. Nat Rev Immunol 2005; 5: 953-964.
-
(2005)
Nat Rev Immunol
, vol.5
, pp. 953-964
-
-
Gordon, S.1
Taylor, P.R.2
-
7
-
-
13844275446
-
Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease
-
Brinkman J, Wijburg FA, Hollak CE, et al: Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. J Inherit Metab Dis 2005; 28: 13-20.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 13-20
-
-
Brinkman, J.1
Wijburg, F.A.2
Hollak, C.E.3
-
8
-
-
4344593367
-
Gaucher cells demonstrae a distinct macrophage phenotype and resemble alternatively activated macrophages
-
Boven LA, van Meurs M, Boot RG, et al: Gaucher cells demonstrae a distinct macrophage phenotype and resemble alternatively activated macrophages. Am Clin Pathol 2004; 122: 359-369.
-
(2004)
Am Clin Pathol
, vol.122
, pp. 359-369
-
-
Boven, L.A.1
Van Meurs, M.2
Boot, R.G.3
-
9
-
-
10444226462
-
ER stress and the unfolded protein response
-
Schroder M, Kaufman RJ: ER stress and the unfolded protein response. Mutat Res 2005; 569: 29-63.
-
(2005)
Mutat Res
, vol.569
, pp. 29-63
-
-
Schroder, M.1
Kaufman, R.J.2
-
10
-
-
33750221963
-
The unfolded protein response is an important regulator of inflammatory genes in endothelial cells
-
Gargalovic PS, Gharavi NM, et al: The unfolded protein response is an important regulator of inflammatory genes in endothelial cells. Arterioscler Thromb Vasc Biol 2006; 26: 2490-2496.
-
(2006)
Arterioscler Thromb Vasc Biol
, vol.26
, pp. 2490-2496
-
-
Gargalovic, P.S.1
Gharavi, N.M.2
-
11
-
-
4444355320
-
GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis
-
Tessitore A, del P Martin M, Sano R, et al: GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis. Mol Cell 2004; 15: 753-766.
-
(2004)
Mol Cell
, vol.15
, pp. 753-766
-
-
Tessitore, A.1
Del Martin P, M.2
Sano, R.3
-
12
-
-
0038607434
-
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms
-
Lloyd-Evans E, Pelled D, Riebeling C, et al: Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms. J Biol Chem 2003; 278: 23594-23599.
-
(2003)
J Biol Chem
, vol.278
, pp. 23594-23599
-
-
Lloyd-Evans, E.1
Pelled, D.2
Riebeling, C.3
-
13
-
-
0033618336
-
Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons
-
Korkotian E, Schwarz A, Pelled D, et al: Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons. J Biol Chem 1999; 274: 21673-21678.
-
(1999)
J Biol Chem
, vol.274
, pp. 21673-21678
-
-
Korkotian, E.1
Schwarz, A.2
Pelled, D.3
-
15
-
-
78751469450
-
Neuropathic Gaucher disease
-
Pastores GM: Neuropathic Gaucher disease. Wien Med Wschr 2010; 160: 605-608.
-
(2010)
Wien Med Wschr
, vol.160
, pp. 605-608
-
-
Pastores, G.M.1
-
17
-
-
33748980122
-
Epidemiology and natural history of Gaucher's disease
-
Mehta A: Epidemiology and natural history of Gaucher's disease. Eur J Intern Med 2006; 17:S2-S5.
-
(2006)
Eur J Intern Med
, vol.17
, pp. S2-S5
-
-
Mehta, A.1
-
18
-
-
1242318577
-
Gaucher's disease: A paradigm for interventional genetics
-
Germain DP: Gaucher's disease: a paradigm for interventional genetics. Clin Genet 2004; 65: 77-86.
-
(2004)
Clin Genet
, vol.65
, pp. 77-86
-
-
Germain, D.P.1
-
19
-
-
79959945443
-
Gaucher disease: Clinical profile and therapeutic developments
-
Cox TM: Gaucher disease: clinical profile and therapeutic developments. Biologics 2010; 4: 299-313.
-
(2010)
Biologics
, vol.4
, pp. 299-313
-
-
Cox, T.M.1
-
20
-
-
0031292176
-
Gaucher disease: Gene frequencies and genotype/phenotype correlations
-
Grabowski G: Gaucher disease: gene frequencies and genotype/phenotype correlations. Genet Test 1997; 1: 5-12.
-
(1997)
Genet Test
, vol.1
, pp. 5-12
-
-
Grabowski, G.1
-
21
-
-
0027394416
-
Gaucher disease: Gene frequencies in the Ashkenazi Jewish population
-
Beutler E, Nguyen NJ, Henneberger MW, et al: Gaucher disease: gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 1993b;52: 85-88.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 85-88
-
-
Beutler, E.1
Nguyen, N.J.2
Henneberger, M.W.3
-
22
-
-
0031452699
-
Gaucher's disease: Molecular, genetic and enzymological aspects
-
Grabowski GA, Horowitz M: Gaucher's disease: molecular, genetic and enzymological aspects. Baillieres Clin Haematol 1997; 10: 635-656.
-
(1997)
Baillieres Clin Haematol
, vol.10
, pp. 635-656
-
-
Grabowski, G.A.1
Horowitz, M.2
-
23
-
-
0033911997
-
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
-
Koprivica V, Stone DL, Park JK, et al: Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000; 66: 1777-1786.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1777-1786
-
-
Koprivica, V.1
Stone, D.L.2
Park, J.K.3
-
24
-
-
42949118684
-
Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
-
Kathleen S, Hruska, Mary E, et al: Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA) . Hum Mutat 2008; 29: 567-583.
-
(2008)
Hum Mutat
, vol.29
, pp. 567-583
-
-
Kathleen, S.1
Hruska Mary, E.2
-
25
-
-
0025882789
-
Three unique base pair changes in a family with Gaucher disease
-
Eyal N, Firon N, Wilder S, et al: Three unique base pair changes in a family with Gaucher disease. Hum Genet 1991; 87: 328-332.
-
(1991)
Hum Genet
, vol.87
, pp. 328-332
-
-
Eyal, N.1
Firon, N.2
Wilder, S.3
-
26
-
-
0025315003
-
Sequence of two alleles responsible for Gaucher disease
-
Hong CM, Ohashi T, Yu XJ, et al: Sequence of two alleles responsible for Gaucher disease. DNA Cell Biol 1990; 9: 233-241.
-
(1990)
DNA Cell Biol
, vol.9
, pp. 233-241
-
-
Hong, C.M.1
Ohashi, T.2
Yu, X.J.3
-
27
-
-
0025352948
-
Complex alleles of the acid beta-glucosidase gene in Gaucher disease
-
Latham T, Grabowski GA, Theophilus BD, et al: Complex alleles of the acid beta-glucosidase gene in Gaucher disease. Am J Hum Genet 1990; 47: 79-86.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 79-86
-
-
Latham, T.1
Grabowski, G.A.2
Theophilus, B.D.3
-
28
-
-
0025973846
-
Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients
-
Latham TE, Theophilus BD, Grabowski GA, et al: Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients. DNA Cell Biol 1991; 10: 15-21.
-
(1991)
DNA Cell Biol
, vol.10
, pp. 15-21
-
-
Latham, T.E.1
Theophilus, B.D.2
Grabowski, G.A.3
-
29
-
-
0037371235
-
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: Implications for complexity in Gaucher disease
-
Tayebi N, Stubblefield BK, Park JK, et al: Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet 2003; 72: 519-534.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 519-534
-
-
Tayebi, N.1
Stubblefield, B.K.2
Park, J.K.3
-
30
-
-
0025101234
-
A glucocerebrosidase fusion gene in Gaucher disease: Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder
-
Zimran A, Sorge J, Gross E, et al: A glucocerebrosidase fusion gene in Gaucher disease: implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J Clin Invest 1990b;85: 219-222.
-
(1990)
J Clin Invest
, vol.85
, pp. 219-222
-
-
Zimran, A.1
Sorge, J.2
Gross, E.3
-
31
-
-
0032618687
-
Detection of three rare (G377S, T134P and 1451delAC) and two novel mutations (G195W and Rec[1263del55; 1342G>C]) in Spanish Gaucher disease patients. Mutation in Brief 251
-
Sarria AJ, Giraldo P, Perez-Calvo JI, et al: Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55; 1342G>C]) in Spanish Gaucher disease patients. Mutation in Brief No. 251. Hum Mutat 1999; 14: 88.
-
(1999)
Hum Mutat
, vol.14
, pp. 88
-
-
Sarria, A.J.1
Giraldo, P.2
Perez-Calvo, J.I.3
-
32
-
-
0034521151
-
A new genepseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease
-
Cormand B, Diaz A, Grinberg D, et al: A new genepseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease. Blood Cells Mol Dis 2000; 26: 409-416.
-
(2000)
Blood Cells Mol Dis
, vol.26
, pp. 409-416
-
-
Cormand, B.1
Diaz, A.2
Grinberg, D.3
-
33
-
-
0033951675
-
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
-
Stone DL, Tayebi N, Orvisky E, et al: Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat 2000b;15: 181-188.
-
(2000)
Hum Mutat
, vol.15
, pp. 181-188
-
-
Stone, D.L.1
Tayebi, N.2
Orvisky, E.3
-
34
-
-
0028535831
-
Glucocerebrosidase mutations in Gaucher disease
-
Beutler E, Demina A, Gelbart T: Glucocerebrosidase mutations in Gaucher disease. Mol Med 1994; 1: 82-92.
-
(1994)
Mol Med
, vol.1
, pp. 82-92
-
-
Beutler, E.1
Demina, A.2
Gelbart, T.3
-
35
-
-
0036461424
-
The E326K mutation and Gaucher disease: Mutation or polymorphism?
-
Park JK, Tayebi N, Stubblefield BK, et al: The E326K mutation and Gaucher disease: mutation or polymorphism? Clin Genet 2002; 61: 32-34.
-
(2002)
Clin Genet
, vol.61
, pp. 32-34
-
-
Park, J.K.1
Tayebi, N.2
Stubblefield, B.K.3
-
36
-
-
0041630834
-
Glucocerebrosidase mutation T369M appears to be another polymorphism
-
Walker JM, Lwin A, Tayebi N, et al: Glucocerebrosidase mutation T369M appears to be another polymorphism. Clin Genet 2003; 63: 237-238.
-
(2003)
Clin Genet
, vol.63
, pp. 237-238
-
-
Walker, J.M.1
Lwin, A.2
Tayebi, N.3
-
37
-
-
17944367637
-
Erratum: Identification and characterization of a novel mutation c.1090G4T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients
-
Torralba MA, Perez-Calvo JI, Pastores GM, et al: Erratum: identification and characterization of a novel mutation c.1090G4T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients. Blood Cells Mol Dis 2001a;27: 713.
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 713
-
-
Torralba, M.A.1
Perez-Calvo, J.I.2
Pastores, G.M.3
-
38
-
-
0034974201
-
Identification and characterization of a novel mutation c.1090G4T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients
-
Torralba MA, Perez-Calvo JI, Pastores GM, et al: Identification and characterization of a novel mutation c.1090G4T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients. Blood Cells Mol Dis 2001b;27: 489-495.
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 489-495
-
-
Torralba, M.A.1
Perez-Calvo, J.I.2
Pastores, G.M.3
-
39
-
-
84920501687
-
Gaucher disease: Molecular biology and genotype-phenotype correlations
-
Futerman AH, Zimran A (eds) Boca Raton CRC Press
-
Hruska K, LaMarca ME, Sidransky E: Gaucher disease: molecular biology and genotype-phenotype correlations; in Futerman AH, Zimran A (eds): Gaucher Disease. Boca Raton, CRC Press, 2007; pp 13-48.
-
(2007)
Gaucher Disease
, pp. 13-48
-
-
Hruska, K.1
LaMarca, M.E.2
Sidransky, E.3
-
40
-
-
0021855168
-
Heterogeneity in type i Gaucher disease demonstrated by restriction mapping of the gene
-
Sorge J, Gelbart T, West C, et al: Heterogeneity in type I Gaucher disease demonstrated by restriction mapping of the gene. Proc Natl Acad Sci USA 1985a;82: 5442-5445.
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 5442-5445
-
-
Sorge, J.1
Gelbart, T.2
West, C.3
-
41
-
-
0025324676
-
Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease
-
Zimran A, Gelbart T, Beutler E: Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease. Am J Hum Genet 1990a;46: 902-905.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 902-905
-
-
Zimran, A.1
Gelbart, T.2
Beutler, E.3
-
42
-
-
0026552015
-
Polymorphisms in the human glucocerebrosidase gene
-
Beutler E, West C, Gelbart T: Polymorphisms in the human glucocerebrosidase gene. Genomics 1992b;12: 795-800.
-
(1992)
Genomics
, vol.12
, pp. 795-800
-
-
Beutler, E.1
West, C.2
Gelbart, T.3
-
43
-
-
0031427004
-
Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation
-
Amaral O, Marcao A, Pinto E, et al: Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation. Blood Cells Mol Dis 1997; 23: 415-416.
-
(1997)
Blood Cells Mol Dis
, vol.23
, pp. 415-416
-
-
Amaral, O.1
Marcao, A.2
Pinto, E.3
-
44
-
-
0031968178
-
Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome
-
Cormand B, Grinberg D, Gort L, et al: Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome. Hum Mutat 1998a;11: 295-305.
-
(1998)
Hum Mutat
, vol.11
, pp. 295-305
-
-
Cormand, B.1
Grinberg, D.2
Gort, L.3
-
45
-
-
0031908468
-
Six new Gaucher disease mutations
-
Demina A, Beutler E: Six new Gaucher disease mutations. Acta Haematol 1998; 99: 80-82.
-
(1998)
Acta Haematol
, vol.99
, pp. 80-82
-
-
Demina, A.1
Beutler, E.2
-
46
-
-
0028344658
-
The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: Linkage to the PvuII polymorphism
-
Lacerda L, Amaral O, Pinto R, et al: The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism. J Inherit Metab Dis 1994; 17: 85-88.
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 85-88
-
-
Lacerda, L.1
Amaral, O.2
Pinto, R.3
-
47
-
-
0031802457
-
Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene
-
Rockah R, Narinsky R, Frydman M, et al: Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene. Am J Med Genet 1998; 78: 233-236.
-
(1998)
Am J Med Genet
, vol.78
, pp. 233-236
-
-
Rockah, R.1
Narinsky, R.2
Frydman, M.3
-
48
-
-
0035206698
-
New insights into the origin of the Gaucher disease causing mutation N370S: Extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms
-
Rodriguez-Mari A, Diaz-Font A, Chabas A, et al: New insights into the origin of the Gaucher disease causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms. Blood Cells Mol Dis 2001; 27: 950-959.
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 950-959
-
-
Rodriguez-Mari, A.1
Diaz-Font, A.2
Chabas, A.3
-
49
-
-
0033047657
-
Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease
-
Lau EK, Tayebi N, Ingraham LJ, et al: Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease. Hum Genet 1999; 104: 293-300.
-
(1999)
Hum Genet
, vol.104
, pp. 293-300
-
-
Lau, E.K.1
Tayebi, N.2
Ingraham, L.J.3
-
50
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky E, Nalls MA, Aasly JO, et al: Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 2009; 361: 1651-1661.
-
(2009)
N Engl J Med
, vol.361
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
-
51
-
-
0034643838
-
Prevalence of Parkinson's disease in Europe: A collaborative study of population-based cohorts
-
Neurologic Diseases in the Elderly Research Group
-
de Rijk MC, Launer LJ, Berger K, et al: Prevalence of Parkinson's disease in Europe: a collaborative study of population-based cohorts. Neurologic Diseases in the Elderly Research Group. Neurology 2000; 54(11 suppl 5):S21-S23.
-
(2000)
Neurology
, vol.54
, Issue.11
, pp. S21-S23
-
-
De Rijk, M.C.1
Launer, L.J.2
Berger, K.3
-
53
-
-
13844317890
-
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
Zimran A, Neudorfer O, Elstein D: The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2005; 352: 728-731.
-
(2005)
N Engl J Med
, vol.352
, pp. 728-731
-
-
Zimran, A.1
Neudorfer, O.2
Elstein, D.3
-
54
-
-
7444237665
-
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R: Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 2004; 351: 1972-1977.
-
(2004)
N Engl J Med
, vol.351
, pp. 1972-1977
-
-
Aharon-Peretz, J.1
Rosenbaum, H.2
Gershoni-Baruch, R.3
-
56
-
-
33646837867
-
Increased incidence of Parkinson disease among relatives of patients with Gaucher disease
-
Halperin A, Elstein D, Zimran A: Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cell Mol Dis 2006; 6: 426-428.
-
(2006)
Blood Cell Mol Dis
, vol.6
, pp. 426-428
-
-
Halperin, A.1
Elstein, D.2
Zimran, A.3
-
57
-
-
66249109910
-
Mutations for Gaucher disease confer high susceptibility to Parkinson disease
-
Mitsui J, Mizuta I, Toyoda A, et al: Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol 2009; 66: 571-576.
-
(2009)
Arch Neurol
, vol.66
, pp. 571-576
-
-
Mitsui, J.1
Mizuta, I.2
Toyoda, A.3
-
58
-
-
79956324138
-
Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease
-
Lesage S, Anheim M, Condroyer C, et al: Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet 2011; 20: 202-210.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 202-210
-
-
Lesage, S.1
Anheim, M.2
Condroyer, C.3
-
59
-
-
84906934849
-
Skeletal improvement in patients with Gaucher disease type 1: A phase 2 trial of oral eliglustat
-
Kamath RS, Lukina E, Watman N, et al: Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat. Skeletal Radiol 2014; 43: 1353-1360.
-
(2014)
Skeletal Radiol
, vol.43
, pp. 1353-1360
-
-
Kamath, R.S.1
Lukina, E.2
Watman, N.3
-
60
-
-
0022447909
-
Evaluation of Gaucher disease using magnetic resonance imaging
-
Rosenthal DI, Scott JA, 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
-
61
-
-
78650827299
-
Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults
-
Mistry PK, Weinreb NJ, Kaplan P, et al: Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis 2011; 46: 66-72.
-
(2011)
Blood Cells Mol Dis
, vol.46
, pp. 66-72
-
-
Mistry, P.K.1
Weinreb, N.J.2
Kaplan, P.3
-
62
-
-
0036075371
-
Imaging and quantifying skeletal involvement in Gaucher disease
-
Maas M, Poll LW, Terk MR: Imaging and quantifying skeletal involvement in Gaucher disease. Br J Radiol 2002; 75(suppl 1):A13-A24.
-
(2002)
Br J Radiol
, vol.75
, pp. A13-A24
-
-
Maas, M.1
Poll, L.W.2
Terk, M.R.3
-
63
-
-
84878381985
-
Miglustat therapy in type 1 Gaucher disease: Clinical and safety outcomes in a multicenter retrospective cohort study
-
Kuter DJ, Mehta A, Hollak CEM, et al: Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study. Blood Cells Mol Dis 2013; 51: 116-124.
-
(2013)
Blood Cells Mol Dis
, vol.51
, pp. 116-124
-
-
Kuter, D.J.1
Mehta, A.2
Hollak, C.E.M.3
-
64
-
-
7244254360
-
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type i Gaucher disease
-
Elstein D, Hollak C, Aerts JM, et al: Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis 2004; 27: 757-766.
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 757-766
-
-
Elstein, D.1
Hollak, C.2
Aerts, J.M.3
-
65
-
-
0036308444
-
Low-dose N-butyldeoxynojirimycin (OGT 918) for type i Gaucher disease
-
Heitner R, Elstein D, Aerts J, et al: Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis 2002; 28: 127-133.
-
(2002)
Blood Cells Mol Dis
, vol.28
, pp. 127-133
-
-
Heitner, R.1
Elstein, D.2
Aerts, J.3
-
66
-
-
64249134427
-
Goaloriented therapy with miglustat in Gaucher disease
-
Pastores GM, Giraldo P, Cherin P, et al: Goaloriented therapy with miglustat in Gaucher disease. Curr Med Res Opin 2009; 25: 23-37.
-
(2009)
Curr Med Res Opin
, vol.25
, pp. 23-37
-
-
Pastores, G.M.1
Giraldo, P.2
Cherin, P.3
-
67
-
-
34948880765
-
Oral maintenance clinical trial with miglustat for type i Gaucher disease: Switch fromor combination with intravenous enzyme replacement
-
Elstein D, Dweck A, Attias D, et al: Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch fromor combination with intravenous enzyme replacement. Blood 2007; 110: 2296-2301.
-
(2007)
Blood
, vol.110
, pp. 2296-2301
-
-
Elstein, D.1
Dweck, A.2
Attias, D.3
-
68
-
-
34848916343
-
Effect of miglustat on bone disease in adults with type 1 Gaucher disease: A pooled analysis of three multinational, open-label studies
-
Pastores GM, Elstein D, Hrebicek M, et al: Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. Clin Ther 2007; 29: 1645-1654.
-
(2007)
Clin Ther
, vol.29
, pp. 1645-1654
-
-
Pastores, G.M.1
Elstein, D.2
Hrebicek, M.3
-
69
-
-
0034837435
-
Sequence variability of a human pseudogene
-
Martinez-Arias R, Calafell F, Mateu E, et al: Sequence variability of a human pseudogene. Genome Res 2001a;11: 1071-1085.
-
(2001)
Genome Res
, vol.11
, pp. 1071-1085
-
-
Martinez-Arias, R.1
Calafell, F.2
Mateu, E.3
-
70
-
-
80051624253
-
How i treat Gaucher disease
-
Zimran A: How I treat Gaucher disease. Blood 2011; 118: 6.
-
(2011)
Blood
, vol.118
, pp. 6
-
-
Zimran, A.1
-
71
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease
-
Barton NW, Brady RO, Dambrosia JM, et al: Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991; 324: 1464-1470.
-
(1991)
N Engl J Med
, vol.324
, pp. 1464-1470
-
-
Barton, N.W.1
Brady, R.O.2
Dambrosia, J.M.3
-
72
-
-
77957551053
-
Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study
-
Lukina E, Watman N, Arreguin EA, et al: Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. Blood 2010; 116: 4095-4098.
-
(2010)
Blood
, vol.116
, pp. 4095-4098
-
-
Lukina, E.1
Watman, N.2
Arreguin, E.A.3
-
73
-
-
84863746895
-
Imiglucerase in the treatment of Gaucher disease: A history and perspective
-
Deegan PB, Cox TM: Imiglucerase in the treatment of Gaucher disease: a history and perspective. Drug Des Devel Ther 2012; 6: 81-106.
-
(2012)
Drug des Devel Ther
, vol.6
, pp. 81-106
-
-
Deegan, P.B.1
Cox, T.M.2
-
74
-
-
0024572637
-
The human glucocerebrosidase gene and pseudogene: Structure and evolution
-
Horowitz M, Wilder S, Horowitz Z, et al: The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics 1989; 4: 87-96.
-
(1989)
Genomics
, vol.4
, pp. 87-96
-
-
Horowitz, M.1
Wilder, S.2
Horowitz, Z.3
-
75
-
-
26444609722
-
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
-
Ron I, Horowitz M: ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum Mol Genet 2005; 14: 2387-2398.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2387-2398
-
-
Ron, I.1
Horowitz, M.2
-
76
-
-
59449103114
-
Isofagomine induced stabilization of glucocerebrosidase
-
Kornhaber GJ, Tropak MB, Maegawa GH, et al: Isofagomine induced stabilization of glucocerebrosidase. Chem Biochem 2008; 9: 2643-2649.
-
(2008)
Chem Biochem
, vol.9
, pp. 2643-2649
-
-
Kornhaber, G.J.1
Tropak, M.B.2
Maegawa, G.H.3
-
77
-
-
69949119548
-
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease
-
Maegawa GH, Tropak MB, Buttner JD, et al: Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem 2009; 284: 23502-23516.
-
(2009)
J Biol Chem
, vol.284
, pp. 23502-23516
-
-
Maegawa, G.H.1
Tropak, M.B.2
Buttner, J.D.3
-
78
-
-
0033779634
-
Antenatal use of ambroxol for the prevention of infant respiratory distress syndrome
-
Laoag-Fernandez JB, Fernandez AM, Maruo T: Antenatal use of ambroxol for the prevention of infant respiratory distress syndrome. J Obstet Gynaecol Res 2000; 26: 307-312.
-
(2000)
J Obstet Gynaecol Res
, vol.26
, pp. 307-312
-
-
Laoag-Fernandez, J.B.1
Fernandez, A.M.2
Maruo, T.3
-
79
-
-
48949121014
-
Hematopoietic stem cell therapy, stem cells and gene therapy
-
Futerman AH, Zimran A (eds) Boca Raton CRC Press
-
Peters C, Krivit W: Hematopoietic stem cell therapy, stem cells and gene therapy; in Futerman AH, Zimran A (eds): Gaucher Disease. Boca Raton, CRC Press, 2007, pp 423-438.
-
(2007)
Gaucher Disease
, pp. 423-438
-
-
Peters, C.1
Krivit, W.2
-
80
-
-
65249168134
-
Successful low-risk hematopoietic cell therapy in a mouse model of type 1 Gaucher disease
-
Enquist IB, Nilsson E, Mansson JE, et al: Successful low-risk hematopoietic cell therapy in a mouse model of type 1 Gaucher disease. Stem Cells 2009; 27: 744-752.
-
(2009)
Stem Cells
, vol.27
, pp. 744-752
-
-
Enquist, I.B.1
Nilsson, E.2
Mansson, J.E.3
-
82
-
-
55249103861
-
Gaucher disease in Arab patients at an Israeli referral clinic
-
Brautbar A, Abrahamov A, Hadas-Halpern I, et al: Gaucher disease in Arab patients at an Israeli referral clinic. Isr Med Assoc J 2008; 10: 600-602.
-
(2008)
Isr Med Assoc J
, vol.10
, pp. 600-602
-
-
Brautbar, A.1
Abrahamov, A.2
Hadas-Halpern, I.3
-
83
-
-
9144245510
-
Gaucher's disease in Tunisia (multicenter study)
-
Chaabouni M, Aoulou H, Tebib N, et al: Gaucher's disease in Tunisia (multicenter study). Rev Med Interne 2004; 25: 104-110.
-
(2004)
Rev Med Interne
, vol.25
, pp. 104-110
-
-
Chaabouni, M.1
Aoulou, H.2
Tebib, N.3
-
84
-
-
68049084591
-
Gaucher disease in Tunisia: High frequency of the most common mutations
-
Cherif W, Ben Turkia H, Ben Rhouma F, et al: Gaucher disease in Tunisia: high frequency of the most common mutations. Blood Cells Mol Dis 2009; 43: 161-162.
-
(2009)
Blood Cells Mol Dis
, vol.43
, pp. 161-162
-
-
Cherif, W.1
Ben Turkia, H.2
Ben Rhouma, F.3
-
85
-
-
0035210351
-
Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: Identification of 11 novel mutations
-
Alfonso P, Cenarro A, Perez-Calvo JI, et al: Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations. Blood Cells Mol Dis 2001; 27: 882-891.
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 882-891
-
-
Alfonso, P.1
Cenarro, A.2
Perez-Calvo, J.I.3
-
86
-
-
0036727615
-
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian Gaucher patients
-
Filocamo M, Mazzotti R, Stroppiano M, et al: Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian Gaucher patients. Hum Mutat 2002; 20: 234-235.
-
(2002)
Hum Mutat
, vol.20
, pp. 234-235
-
-
Filocamo, M.1
Mazzotti, R.2
Stroppiano, M.3
-
87
-
-
0035206698
-
New insights into the origin of the Gaucher disease-causing mutation N370S: Extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms
-
Rodriguez-Mari A, Diaz-Font A, Chabas A, et al: New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms. Blood Cells Mol Dis 2001; 27: 950-959.
-
(2001)
Blood Cells Mol Dis
, vol.27
, pp. 950-959
-
-
Rodriguez-Mari, A.1
Diaz-Font, A.2
Chabas, A.3
-
88
-
-
77950442584
-
Phenotype and mutational spectrum in Tunisian pediatric Gaucher disease
-
Ben Turkia H, Riahi I, Azzouz H, Ladab S, et al: Phenotype and mutational spectrum in Tunisian pediatric Gaucher disease. Tunis Med 2010; 88: 158-162.
-
(2010)
Tunis Med
, vol.88
, pp. 158-162
-
-
Ben Turkia, H.1
Riahi, I.2
Azzouz, H.3
Ladab, S.4
-
89
-
-
84855475256
-
Adult Gaucher disease in southern Tunisia: Report of three cases
-
Ben Rhouma F, Kallel F, Kefi R, et al: Adult Gaucher disease in southern Tunisia: report of three cases. Diagn Pathol 2012; 7: 4.
-
(2012)
Diagn Pathol
, vol.7
, pp. 4
-
-
Ben Rhouma, F.1
Kallel, F.2
Kefi, R.3
-
90
-
-
37049014909
-
Biochemical and molecular diagnosis of Gaucher disease in Tunisia
-
Dandana A, Ferchichi S, Khedhiri S, et al: Biochemical and molecular diagnosis of Gaucher disease in Tunisia. Ann Biol Clin (Paris) 2007; 65: 647-652.
-
(2007)
Ann Biol Clin (Paris)
, vol.65
, pp. 647-652
-
-
Dandana, A.1
Ferchichi, S.2
Khedhiri, S.3
|