-
1
-
-
2942652829
-
The pathogenesis of glycosphingolipid storage disorders
-
Ginzburg, L.; Kacher, Y.; Futerman, A.H. The pathogenesis of glycosphingolipid storage disorders. Semin. Cell Dev. Biol. 2004, 15, 417–431.
-
(2004)
Semin. Cell Dev. Biol
, vol.15
, pp. 417-431
-
-
Ginzburg, L.1
Kacher, Y.2
Futerman, A.H.3
-
2
-
-
42949118684
-
Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
-
Hruska, K.S.; LaMarca, M.E.; Scott, C.R.; Sidransky, E. 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
-
-
Hruska, K.S.1
Lamarca, M.E.2
Scott, C.R.3
Sidransky, E.4
-
3
-
-
77958185918
-
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting
-
Vaccaro, A.M.; Motta, M.; Tatti, M.; Scarpa, S.; Masuelli, L.; Bhat, M.; Vanier, M.T.; Tylki-Szymanska, A.; Salvioli, R. Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting. Hum. Mol. Genet. 2010, 19, 2987–2997.
-
(2010)
Hum. Mol. Genet
, vol.19
, pp. 2987-2997
-
-
Vaccaro, A.M.1
Motta, M.2
Tatti, M.3
Scarpa, S.4
Masuelli, L.5
Bhat, M.6
Vanier, M.T.7
Tylki-Szymanska, A.8
Salvioli, R.9
-
4
-
-
84875929431
-
Gaucher disease: Insights from a rare Mendelian disorder
-
[PubMed]
-
Sidransky, E. Gaucher disease: Insights from a rare Mendelian disorder. Discov. Med. 2012, 14, 273–281. [PubMed]
-
(2012)
Discov. Med
, vol.14
, pp. 273-281
-
-
Sidransky, E.1
-
5
-
-
53049096591
-
Phenotype, diagnosis, and treatment of Gaucher’s disease
-
Grabowski, G.A. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet 2008, 372, 1263–1271.
-
(2008)
Lancet
, vol.372
, pp. 1263-1271
-
-
Grabowski, G.A.1
-
6
-
-
84867134063
-
The French Gaucher’s disease registry: Clinical characteristics, complications and treatment of 562 patients
-
Stirnemann, J.; Vigan, M.; Hamroun, D.; Heraoui, D.; Rossi-Semerano, L.; Berger, M.G.; Rose, C.; Camou, F.; de Roux-Serratrice, C.; Grosbois, B.; et al. The French Gaucher’s disease registry: Clinical characteristics, complications and treatment of 562 patients. Orphanet J. Rare Dis. 2012, 7, 77.
-
(2012)
Orphanet J. Rare Dis
, vol.7
, pp. 77
-
-
Stirnemann, J.1
Vigan, M.2
Hamroun, D.3
Heraoui, D.4
Rossi-Semerano, L.5
Berger, M.G.6
Rose, C.7
Camou, F.8
De Roux-Serratrice, C.9
Grosbois, B.10
-
7
-
-
0014348167
-
The fine structure of the cerebroside occurring in Gaucher’s disease
-
Lee, R.E. The fine structure of the cerebroside occurring in Gaucher’s disease. Proc. Natl. Acad. Sci. USA 1968, 61, 484–489.
-
(1968)
Proc. Natl. Acad. Sci. USA
, vol.61
, pp. 484-489
-
-
Lee, R.E.1
-
8
-
-
78751473041
-
An overview on bone manifestations in Gaucher disease
-
Mikosch, P.; Hughes, D. An overview on bone manifestations in Gaucher disease. Wiener Med. Wochenschr. 2010, 160, 609–624.
-
(2010)
Wiener Med. Wochenschr
, vol.160
, pp. 609-624
-
-
Mikosch, P.1
Hughes, D.2
-
9
-
-
0036387220
-
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: Correlation with phenotype and genotype
-
Orvisky, E.; Park, J.K.; LaMarca, M.E.; Ginns, E.I.; Martin, B.M.; Tayebi, N.; Sidransky, E. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: Correlation with phenotype and genotype. Mol. Genet. Metab. 2002, 76, 262–270.
-
(2002)
Mol. Genet. Metab
, vol.76
, pp. 262-270
-
-
Orvisky, E.1
Park, J.K.2
Lamarca, M.E.3
Ginns, E.I.4
Martin, B.M.5
Tayebi, N.6
Sidransky, E.7
-
10
-
-
84996542565
-
A Drosophila model of neuronopathic Gaucher disease demonstrates lysosomal-autophagic defects and altered mTOR signalling and is functionally rescued by rapamycin
-
Kinghorn, K.J.; Gronke, S.; Castillo-Quan, J.I.; Woodling, N.S.; Li, L.; Sirka, E.; Gegg, M.; Mills, K.; Hardy, J.; Bjedov, I.; et al. A Drosophila model of neuronopathic Gaucher disease demonstrates lysosomal-autophagic defects and altered mTOR signalling and is functionally rescued by rapamycin. J. Neurosci. 2016, 36, 11654–11670.
-
(2016)
J. Neurosci
, vol.36
, pp. 11654-11670
-
-
Kinghorn, K.J.1
Gronke, S.2
Castillo-Quan, J.I.3
Woodling, N.S.4
Li, L.5
Sirka, E.6
Gegg, M.7
Mills, K.8
Hardy, J.9
-
11
-
-
4344593367
-
Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages
-
Boven, L.A.; van Meurs, M.; Boot, R.G.; Mehta, A.; Boon, L.; Aerts, J.M.; Laman, J.D. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am. J. Clin. Pathol. 2004, 122, 359–369.
-
(2004)
Am. J. Clin. Pathol
, vol.122
, pp. 359-369
-
-
Boven, L.A.1
Van Meurs, M.2
Boot, R.G.3
Mehta, A.4
Boon, L.5
Aerts, J.M.6
Laman, J.D.7
-
12
-
-
84933575464
-
Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: Implication for bone pathology
-
Mucci, J.M.; Cuello, M.F.; Kisinovsky, I.; Larroude, M.; Delpino, M.V.; Rozenfeld, P.A. Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: Implication for bone pathology. Blood Cells Mol. Dis. 2015, 55, 134–143.
-
(2015)
Blood Cells Mol. Dis
, vol.55
, pp. 134-143
-
-
Mucci, J.M.1
Cuello, M.F.2
Kisinovsky, I.3
Larroude, M.4
Delpino, M.V.5
Rozenfeld, P.A.6
-
13
-
-
84955187445
-
Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages
-
Aflaki, E.; Moaven, N.; Borger, D.K.; Lopez, G.; Westbroek, W.; Chae, J.J.; Marugan, J.; Patnaik, S.; Maniwang, E.; Gonzalez, A.N.; et al. Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages. Aging Cell 2016, 15, 77–88.
-
(2016)
Aging Cell
, vol.15
, pp. 77-88
-
-
Aflaki, E.1
Moaven, N.2
Borger, D.K.3
Lopez, G.4
Westbroek, W.5
Chae, J.J.6
Marugan, J.7
Patnaik, S.8
Maniwang, E.9
Gonzalez, A.N.10
-
14
-
-
0031018508
-
Pro-inflammatory cytokines and the pathogenesis of Gaucher’s disease: Increased release of interleukin-6 and interleukin-10
-
Allen, M.J.; Myer, B.J.; Khokher, A.M.; Rushton, N.; Cox, T.M. Pro-inflammatory cytokines and the pathogenesis of Gaucher’s disease: Increased release of interleukin-6 and interleukin-10. Mon. J. Assoc. Phys. 1997, 90, 19–25.
-
(1997)
Mon. J. Assoc. Phys
, vol.90
, pp. 19-25
-
-
Allen, M.J.1
Myer, B.J.2
Khokher, A.M.3
Rushton, N.4
Cox, T.M.5
-
15
-
-
0032805835
-
Cytokines in Gaucher’s disease
-
Barak, V.; Acker, M.; Nisman, B.; Kalickman, I.; Abrahamov, A.; Zimran, A.; Yatziv, S. Cytokines in Gaucher’s disease. Eur. Cytokine Netw. 1999, 10, 205–210.
-
(1999)
Eur. Cytokine Netw
, vol.10
, pp. 205-210
-
-
Barak, V.1
Acker, M.2
Nisman, B.3
Kalickman, I.4
Abrahamov, A.5
Zimran, A.6
Yatziv, S.7
-
16
-
-
0031213523
-
Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease
-
Hollak, C.E.; Evers, L.; Aerts, J.M.; van Oers, M.H. Elevated levels of M-CSF, sCD14 and IL8 in type 1 Gaucher disease. Blood Cells Mol. Dis. 1997, 23, 201–212.
-
(1997)
Blood Cells Mol. Dis
, vol.23
, pp. 201-212
-
-
Hollak, C.E.1
Evers, L.2
Aerts, J.M.3
Van Oers, M.H.4
-
17
-
-
34250001946
-
Increased plasma macrophage inflammatory protein (MIP)-1α and MIP-1β levels in type 1 Gaucher disease
-
van Breemen, M.J.; de Fost, M.; Voerman, J.S.; Laman, J.D.; Boot, R.G.; Maas, M.; Hollak, C.E.; Aerts, J.M.; Rezaee, F. Increased plasma macrophage inflammatory protein (MIP)-1α and MIP-1β levels in type 1 Gaucher disease. Biochim. Biophys. Acta 2007, 1772, 788–796.
-
(2007)
Biochim. Biophys. Acta
, vol.1772
, pp. 788-796
-
-
Van Breemen, M.J.1
De Fost, M.2
Voerman, J.S.3
Laman, J.D.4
Boot, R.G.5
Maas, M.6
Hollak, C.E.7
Aerts, J.M.8
Rezaee, F.9
-
18
-
-
78650614891
-
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
-
Mistry, P.K.; Liu, J.; Yang, M.; Nottoli, T.; McGrath, J.; Jain, D.; Zhang, K.; Keutzer, J.; Chuang, W.L.; Mehal, W.Z.; et al. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc. Natl. Acad. Sci. USA 2010, 107, 19473–19478.
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 19473-19478
-
-
Mistry, P.K.1
Liu, J.2
Yang, M.3
Nottoli, T.4
McGrath, J.5
Jain, D.6
Zhang, K.7
Keutzer, J.8
Chuang, W.L.9
Mehal, W.Z.10
-
19
-
-
80054841258
-
Elevated plasma glucosylsphingosine in Gaucher disease: Relation to phenotype, storage cell markers, and therapeutic response
-
Dekker, N.; van Dussen, L.; Hollak, C.E.; Overkleeft, H.; Scheij, S.; Ghauharali, K.; van Breemen, M.J.; Ferraz, M.J.; Groener, J.E.; Maas, M.; et al. Elevated plasma glucosylsphingosine in Gaucher disease: Relation to phenotype, storage cell markers, and therapeutic response. Blood 2011, 118, e118–e127.
-
(2011)
Blood
, vol.118
, pp. e118-e127
-
-
Dekker, N.1
Van Dussen, L.2
Hollak, C.E.3
Overkleeft, H.4
Scheij, S.5
Ghauharali, K.6
Van Breemen, M.J.7
Ferraz, M.J.8
Groener, J.E.9
Maas, M.10
-
20
-
-
84897520098
-
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease
-
Mistry, P.K.; Liu, J.; Sun, L.; Chuang, W.L.; Yuen, T.; Yang, R.; Lu, P.; Zhang, K.; Li, J.; Keutzer, J.; et al. Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease. Proc. Natl. Acad. Sci. USA 2014, 111, 4934–4939.
-
(2014)
Proc. Natl. Acad. Sci. USA
, vol.111
, pp. 4934-4939
-
-
Mistry, P.K.1
Liu, J.2
Sun, L.3
Chuang, W.L.4
Yuen, T.5
Yang, R.6
Lu, P.7
Zhang, K.8
Li, J.9
-
21
-
-
3843077293
-
Down-regulation of Bcl-2 in the fetal brain of the Gaucher disease mouse model: A possible role in the neuronal loss
-
Hong, Y.B.; Kim, E.Y.; Jung, S.C. Down-regulation of Bcl-2 in the fetal brain of the Gaucher disease mouse model: A possible role in the neuronal loss. J. Hum. Genet. 2004, 49, 349–354.
-
(2004)
J. Hum. Genet
, vol.49
, pp. 349-354
-
-
Hong, Y.B.1
Kim, E.Y.2
Jung, S.C.3
-
22
-
-
84894280298
-
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients
-
Rolfs, A.; Giese, A.K.; Grittner, U.; Mascher, D.; Elstein, D.; Zimran, A.; Bottcher, T.; Lukas, J.; Hubner, R.; Golnitz, U.; et al. Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS ONE 2013, 8, e79732.
-
(2013)
Plos ONE
, vol.8
-
-
Rolfs, A.1
Giese, A.K.2
Grittner, U.3
Mascher, D.4
Elstein, D.5
Zimran, A.6
Bottcher, T.7
Lukas, J.8
Hubner, R.9
Golnitz, U.10
-
23
-
-
1642580757
-
Lymphocyte egress from thymus and peripheral lymphoid organs is dependent on S1P receptor 1
-
Matloubian, M.; Lo, C.G.; Cinamon, G.; Lesneski, M.J.; Xu, Y.; Brinkmann, V.; Allende, M.L.; Proia, R.L.; Cyster, J.G. Lymphocyte egress from thymus and peripheral lymphoid organs is dependent on S1P receptor 1. Nature 2004, 427, 355–360.
-
(2004)
Nature
, vol.427
, pp. 355-360
-
-
Matloubian, M.1
Lo, C.G.2
Cinamon, G.3
Lesneski, M.J.4
Xu, Y.5
Brinkmann, V.6
Allende, M.L.7
Proia, R.L.8
Cyster, J.G.9
-
24
-
-
84855857674
-
Bone marrow microenvironment in an in vitro model of Gaucher disease: Consequences of glucocerebrosidase deficiency
-
Lecourt, S.; Vanneaux, V.; Cras, A.; Freida, D.; Heraoui, D.; Herbi, L.; Caillaud, C.; Chomienne, C.; Marolleau, J.P.; Belmatoug, N.; et al. Bone marrow microenvironment in an in vitro model of Gaucher disease: Consequences of glucocerebrosidase deficiency. Stem Cells Dev. 2012, 21, 239–248.
-
(2012)
Stem Cells Dev
, vol.21
, pp. 239-248
-
-
Lecourt, S.1
Vanneaux, V.2
Cras, A.3
Freida, D.4
Heraoui, D.5
Herbi, L.6
Caillaud, C.7
Chomienne, C.8
Marolleau, J.P.9
Belmatoug, N.10
-
25
-
-
70350459562
-
Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome
-
Campeau, P.M.; Rafei, M.; Boivin, M.N.; Sun, Y.; Grabowski, G.A.; Galipeau, J. Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. Blood 2009, 114, 3181–3190.
-
(2009)
Blood
, vol.114
, pp. 3181-3190
-
-
Campeau, P.M.1
Rafei, M.2
Boivin, M.N.3
Sun, Y.4
Grabowski, G.A.5
Galipeau, J.6
-
26
-
-
77953530686
-
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease
-
Berger, J.; Lecourt, S.; Vanneaux, V.; Rapatel, C.; Boisgard, S.; Caillaud, C.; Boiret-Dupre, N.; Chomienne, C.; Marolleau, J.P.; Larghero, J.; et al. Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease. Br. J. Haematol. 2010, 150, 93–101.
-
(2010)
Br. J. Haematol
, vol.150
, pp. 93-101
-
-
Berger, J.1
Lecourt, S.2
Vanneaux, V.3
Rapatel, C.4
Boisgard, S.5
Caillaud, C.6
Boiret-Dupre, N.7
Chomienne, C.8
Marolleau, J.P.9
Larghero, J.10
-
27
-
-
77953232359
-
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: Characterizing the biliary phenotype of type 1 Gaucher disease
-
Taddei, T.H.; Dziura, J.; Chen, S.; Yang, R.; Hyogo, H.; Sullards, C.; Cohen, D.E.; Pastores, G.; Mistry, P.K. High incidence of cholesterol gallstone disease in type 1 Gaucher disease: Characterizing the biliary phenotype of type 1 Gaucher disease. J. Inherit. Metab. Dis. 2010, 33, 291–300.
-
(2010)
J. Inherit. Metab. Dis
, vol.33
, pp. 291-300
-
-
Taddei, T.H.1
Dziura, J.2
Chen, S.3
Yang, R.4
Hyogo, H.5
Sullards, C.6
Cohen, D.E.7
Pastores, G.8
Mistry, P.K.9
-
28
-
-
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
-
29
-
-
84921717897
-
Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation
-
Yang, C.; Wang, H.; Zhu, D.; Hong, C.S.; Dmitriev, P.; Zhang, C.; Li, Y.; Ikejiri, B.; Brady, R.O.; Zhuang, Z. Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation. Proc. Natl. Acad. Sci. USA 2015, 112, 1137–1142.
-
(2015)
Proc. Natl. Acad. Sci. USA
, vol.112
, pp. 1137-1142
-
-
Yang, C.1
Wang, H.2
Zhu, D.3
Hong, C.S.4
Dmitriev, P.5
Zhang, C.6
Li, Y.7
Ikejiri, B.8
Brady, R.O.9
Zhuang, Z.10
-
30
-
-
36048935960
-
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of β-glucocerebrosidase
-
Reczek, D.; Schwake, M.; Schroder, J.; Hughes, H.; Blanz, J.; Jin, X.; Brondyk, W.; Van Patten, S.; Edmunds, T.; Saftig, P. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of β-glucocerebrosidase. Cell 2007, 131, 770–783.
-
(2007)
Cell
, vol.131
, pp. 770-783
-
-
Reczek, D.1
Schwake, M.2
Schroder, J.3
Hughes, H.4
Blanz, J.5
Jin, X.6
Brondyk, W.7
Van Patten, S.8
Edmunds, T.9
Saftig, P.10
-
31
-
-
40849144062
-
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
-
[PubMed]
-
Berkovic, S.F.; Dibbens, L.M.; Oshlack, A.; Silver, J.D.; Katerelos, M.; Vears, D.F.; Lullmann-Rauch, R.; Blanz, J.; Zhang, K.W.; Stankovich, J.; et al. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am. J. Hum. Genet. 2008, 82, 673–684. [PubMed]
-
(2008)
Am. J. Hum. Genet
, vol.82
, pp. 673-684
-
-
Berkovic, S.F.1
Dibbens, L.M.2
Oshlack, A.3
Silver, J.D.4
Katerelos, M.5
Vears, D.F.6
Lullmann-Rauch, R.7
Blanz, J.8
Zhang, K.W.9
Stankovich, J.10
-
32
-
-
34249068478
-
Lysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophy
-
Schroen, B.; Leenders, J.J.; van Erk, A.; Bertrand, A.T.; van Loon, M.; van Leeuwen, R.E.; Kubben, N.; Duisters, R.F.; Schellings, M.W.; Janssen, B.J.; et al. Lysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophy. J. Exp. Med. 2007, 204, 1227–1235.
-
(2007)
J. Exp. Med
, vol.204
, pp. 1227-1235
-
-
Schroen, B.1
Leenders, J.J.2
Van Erk, A.3
Bertrand, A.T.4
Van Loon, M.5
Van Leeuwen, R.E.6
Kubben, N.7
Duisters, R.F.8
Schellings, M.W.9
Janssen, B.J.10
-
33
-
-
80054741196
-
A mutation in SCARB2 is a modifier in Gaucher disease
-
Velayati, A.; DePaolo, J.; Gupta, N.; Choi, J.H.; Moaven, N.; Westbroek, W.; Goker-Alpan, O.; Goldin, E.; Stubblefield, B.K.; Kolodny, E.; et al. A mutation in SCARB2 is a modifier in Gaucher disease. Hum. Mutat. 2011, 32, 1232–1238.
-
(2011)
Hum. Mutat
, vol.32
, pp. 1232-1238
-
-
Velayati, A.1
Depaolo, J.2
Gupta, N.3
Choi, J.H.4
Moaven, N.5
Westbroek, W.6
Goker-Alpan, O.7
Goldin, E.8
Stubblefield, B.K.9
Kolodny, E.10
-
34
-
-
84994832035
-
Association between progranulin and Gaucher disease
-
Jian, J.; Zhao, S.; Tian, Q.Y.; Liu, H.; Zhao, Y.; Chen, W.C.; Grunig, G.; Torres, P.A.; Wang, B.C.; Zeng, B.; et al. Association between progranulin and Gaucher disease. EBioMedicine 2016, 11, 127–137.
-
(2016)
Ebiomedicine
, vol.11
, pp. 127-137
-
-
Jian, J.1
Zhao, S.2
Tian, Q.Y.3
Liu, H.4
Zhao, Y.5
Chen, W.C.6
Grunig, G.7
Torres, P.A.8
Wang, B.C.9
Zeng, B.10
-
35
-
-
85002593635
-
Progranulin recruits HSP70 to β-Glucocerebrosidase and is therapeutic against Gaucher disease
-
Jian, J.; Tian, Q.Y.; Hettinghouse, A.; Zhao, S.; Liu, H.; Wei, J.; Grunig, G.; Zhang, W.; Setchell, K.D.; Sun, Y.; et al. Progranulin recruits HSP70 to β-Glucocerebrosidase and is therapeutic against Gaucher disease. EBioMedicine 2016, 13, 212–224.
-
(2016)
Ebiomedicine
, vol.13
, pp. 212-224
-
-
Jian, J.1
Tian, Q.Y.2
Hettinghouse, A.3
Zhao, S.4
Liu, H.5
Wei, J.6
Grunig, G.7
Zhang, W.8
Setchell, K.D.9
Sun, Y.10
-
36
-
-
84903511229
-
Progranulin in neurodegenerative disease
-
Petkau, T.L.; Leavitt, B.R. Progranulin in neurodegenerative disease. Trends Neurosci. 2014, 37, 388–398.
-
(2014)
Trends Neurosci
, vol.37
, pp. 388-398
-
-
Petkau, T.L.1
Leavitt, B.R.2
-
37
-
-
78650809398
-
A monozygotic twin pair with highly discordant Gaucher phenotypes
-
Biegstraaten, M.; van Schaik, I.N.; Aerts, J.M.; Langeveld, M.; Mannens, M.M.; Bour, L.J.; Sidransky, E.; Tayebi, N.; Fitzgibbon, E.; Hollak, C.E. A monozygotic twin pair with highly discordant Gaucher phenotypes. Blood Cells Mol. Dis. 2011, 46, 39–41.
-
(2011)
Blood Cells Mol. Dis
, vol.46
, pp. 39-41
-
-
Biegstraaten, M.1
Van Schaik, I.N.2
Aerts, J.M.3
Langeveld, M.4
Mannens, M.M.5
Bour, L.J.6
Sidransky, E.7
Tayebi, N.8
Fitzgibbon, E.9
Hollak, C.E.10
-
38
-
-
77649234846
-
Disease severity in sibling pairs with type 1 Gaucher disease
-
Elstein, D.; Gellman, A.; Altarescu, G.; Abrahamov, A.; Hadas-Halpern, I.; Phillips, M.; Margalit, M.; Lebel, E.; Itzchaki, M.; Zimran, A. Disease severity in sibling pairs with type 1 Gaucher disease. J. Inherit. Metab. Dis. 2010, 33, 79–83.
-
(2010)
J. Inherit. Metab. Dis
, vol.33
, pp. 79-83
-
-
Elstein, D.1
Gellman, A.2
Altarescu, G.3
Abrahamov, A.4
Hadas-Halpern, I.5
Phillips, M.6
Margalit, M.7
Lebel, E.8
Itzchaki, M.9
Zimran, A.10
-
39
-
-
84893669177
-
Lysosomal integral membrane protein-2: A new player in lysosome-related pathology
-
Gonzalez, A.; Valeiras, M.; Sidransky, E.; Tayebi, N. Lysosomal integral membrane protein-2: A new player in lysosome-related pathology. Mol. Genet. Metab. 2014, 111, 84–91.
-
(2014)
Mol. Genet. Metab
, vol.111
, pp. 84-91
-
-
Gonzalez, A.1
Valeiras, M.2
Sidransky, E.3
Tayebi, N.4
-
40
-
-
27644455088
-
Mutations in the glucocerebrosidase gene and Parkinson disease: Phenotype-genotype correlation
-
Aharon-Peretz, J.; Badarny, S.; Rosenbaum, H.; Gershoni-Baruch, R. 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
Gershoni-Baruch, R.4
-
41
-
-
34548726339
-
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease
-
Clark, L.N.; Ross, B.M.; Wang, Y.; Mejia-Santana, H.; Harris, J.; Louis, E.D.; Cote, L.J.; Andrews, H.; Fahn, S.; Waters, C.; et al. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology 2007, 69, 1270–1277.
-
(2007)
Neurology
, vol.69
, pp. 1270-1277
-
-
Clark, L.N.1
Ross, B.M.2
Wang, Y.3
Mejia-Santana, H.4
Harris, J.5
Louis, E.D.6
Cote, L.J.7
Andrews, H.8
Fahn, S.9
Waters, C.10
-
42
-
-
20944434070
-
Analysis of the glucocerebrosidase gene in Parkinson’s disease
-
Sato, C.; Morgan, A.; Lang, A.E.; Salehi-Rad, S.; Kawarai, T.; Meng, Y.; Ray, P.N.; Farrer, L.A.; St George-Hyslop, P.; Rogaeva, E. Analysis of the glucocerebrosidase gene in Parkinson’s disease. Mov. Disord. 2005, 20, 367–370.
-
(2005)
Mov. Disord
, vol.20
, pp. 367-370
-
-
Sato, C.1
Morgan, A.2
Lang, A.E.3
Salehi-Rad, S.4
Kawarai, T.5
Meng, Y.6
Ray, P.N.7
Farrer, L.A.8
St George-Hyslop, P.9
Rogaeva, E.10
-
43
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson’s disease
-
Sidransky, E.; Nalls, M.A.; Aasly, J.O.; Aharon-Peretz, J.; Annesi, G.; Barbosa, E.R.; Bar-Shira, A.; Berg, D.; Bras, J.; Brice, A.; 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
Aharon-Peretz, J.4
Annesi, G.5
Barbosa, E.R.6
Bar-Shira, A.7
Berg, D.8
Bras, J.9
Brice, A.10
-
44
-
-
77952476225
-
Parkinson’s disease-related LRRK2 G2019S mutation results from independent mutational events in humans
-
Lesage, S.; Patin, E.; Condroyer, C.; Leutenegger, A.L.; Lohmann, E.; Giladi, N.; Bar-Shira, A.; Belarbi, S.; Hecham, N.; Pollak, P.; et al. Parkinson’s disease-related LRRK2 G2019S mutation results from independent mutational events in humans. Hum. Mol. Genet. 2010, 19, 1998–2004.
-
(2010)
Hum. Mol. Genet
, vol.19
, pp. 1998-2004
-
-
Lesage, S.1
Patin, E.2
Condroyer, C.3
Leutenegger, A.L.4
Lohmann, E.5
Giladi, N.6
Bar-Shira, A.7
Belarbi, S.8
Hecham, N.9
-
45
-
-
84995745476
-
Neuropathic Gaucher’s mutations accelerate cognitive decline in Parkinson’s
-
Liu, G.; Boot, B.; Locascio, J.J.; Jansen, I.E.; Winder-Rhodes, S.; Eberly, S.; Elbaz, A.; Brice, A.; Ravina, B.; van Hilten, J.J.; et al. Neuropathic Gaucher’s mutations accelerate cognitive decline in Parkinson’s. Ann. Neurol. 2016, 80, 674–685.
-
(2016)
Ann. Neurol
, vol.80
, pp. 674-685
-
-
Liu, G.1
Boot, B.2
Locascio, J.J.3
Jansen, I.E.4
Winder-Rhodes, S.5
Eberly, S.6
Elbaz, A.7
Brice, A.8
Ravina, B.9
Van Hilten, J.J.10
-
46
-
-
84990249645
-
Survival and dementia in GBA-associated Parkinson’s disease: The mutation matters
-
Cilia, R.; Tunesi, S.; Marotta, G.; Cereda, E.; Siri, C.; Tesei, S.; Zecchinelli, A.L.; Canesi, M.; Mariani, C.B.; Meucci, N.; et al. Survival and dementia in GBA-associated Parkinson’s disease: The mutation matters. Ann. Neurol. 2016, 80, 662–673.
-
(2016)
Ann. Neurol
, vol.80
, pp. 662-673
-
-
Cilia, R.1
Tunesi, S.2
Marotta, G.3
Cereda, E.4
Siri, C.5
Tesei, S.6
Zecchinelli, A.L.7
Canesi, M.8
Mariani, C.B.9
Meucci, N.10
-
47
-
-
79960009804
-
Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies
-
Mazzulli, J.R.; Xu, Y.H.; Sun, Y.; Knight, A.L.; McLean, P.J.; Caldwell, G.A.; Sidransky, E.; Grabowski, G.A.; Krainc, D. Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 2011, 146, 37–52.
-
(2011)
Cell
, vol.146
, pp. 37-52
-
-
Mazzulli, J.R.1
Xu, Y.H.2
Sun, Y.3
Knight, A.L.4
McLean, P.J.5
Caldwell, G.A.6
Sidransky, E.7
Grabowski, G.A.8
Krainc, D.9
-
48
-
-
79959925894
-
α-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases
-
Yap, T.L.; Gruschus, J.M.; Velayati, A.; Westbroek, W.; Goldin, E.; Moaven, N.; Sidransky, E.; Lee, J.C. α-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases. J. Biol. Chem. 2011, 286, 28080–28088.
-
(2011)
J. Biol. Chem
, vol.286
, pp. 28080-28088
-
-
Yap, T.L.1
Gruschus, J.M.2
Velayati, A.3
Westbroek, W.4
Goldin, E.5
Moaven, N.6
Sidransky, E.7
Lee, J.C.8
-
49
-
-
84894528843
-
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease
-
Murphy, K.E.; Gysbers, A.M.; Abbott, S.K.; Tayebi, N.; Kim, W.S.; Sidransky, E.; Cooper, A.; Garner, B.; Halliday, G.M. Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease. Brain J. Neurol. 2014, 137, 834–848.
-
(2014)
Brain J. Neurol
, vol.137
, pp. 834-848
-
-
Murphy, K.E.1
Gysbers, A.M.2
Abbott, S.K.3
Tayebi, N.4
Kim, W.S.5
Sidransky, E.6
Cooper, A.7
Garner, B.8
Halliday, G.M.9
-
50
-
-
84871720426
-
Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity
-
Yap, T.L.; Velayati, A.; Sidransky, E.; Lee, J.C. Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity. Mol. Genet. Metab. 2013, 108, 56–64.
-
(2013)
Mol. Genet. Metab
, vol.108
, pp. 56-64
-
-
Yap, T.L.1
Velayati, A.2
Sidransky, E.3
Lee, J.C.4
-
51
-
-
84922724492
-
Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C
-
Gruschus, J.M.; Jiang, Z.; Yap, T.L.; Hill, S.A.; Grishaev, A.; Piszczek, G.; Sidransky, E.; Lee, J.C. Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C. Biochem. Biophys. Res. Commun. 2015, 457, 561–566.
-
(2015)
Biochem. Biophys. Res. Commun
, vol.457
, pp. 561-566
-
-
Gruschus, J.M.1
Jiang, Z.2
Yap, T.L.3
Hill, S.A.4
Grishaev, A.5
Piszczek, G.6
Sidransky, E.7
Lee, J.C.8
-
52
-
-
77956537090
-
Interaction between parkin and mutant glucocerebrosidase variants: A possible link between Parkinson disease and Gaucher disease
-
Ron, I.; Rapaport, D.; Horowitz, M. Interaction between parkin and mutant glucocerebrosidase variants: A possible link between Parkinson disease and Gaucher disease. Hum. Mol. Genet. 2010, 19, 3771–3781.
-
(2010)
Hum. Mol. Genet
, vol.19
, pp. 3771-3781
-
-
Ron, I.1
Rapaport, D.2
Horowitz, M.3
-
53
-
-
84958772799
-
Advances in GBA-associated Parkinson’s disease—Pathology, presentation and therapies
-
Barkhuizen, M.; Anderson, D.G.; Grobler, A.F. Advances in GBA-associated Parkinson’s disease—Pathology, presentation and therapies. Neurochem. Int. 2016, 93, 6–25.
-
(2016)
Neurochem. Int
, vol.93
, pp. 6-25
-
-
Barkhuizen, M.1
Anderson, D.G.2
Grobler, A.F.3
-
54
-
-
79956199921
-
Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alterα-synuclein processing
-
Cullen, V.; Sardi, S.P.; Ng, J.; Xu, Y.H.; Sun, Y.; Tomlinson, J.J.; Kolodziej, P.; Kahn, I.; Saftig, P.; Woulfe, J.; et al. Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alterα-synuclein processing. Ann. Neurol. 2011, 69, 940–953.
-
(2011)
Ann. Neurol
, vol.69
, pp. 940-953
-
-
Cullen, V.1
Sardi, S.P.2
Ng, J.3
Xu, Y.H.4
Sun, Y.5
Tomlinson, J.J.6
Kolodziej, P.7
Kahn, I.8
Saftig, P.9
Woulfe, J.10
-
55
-
-
84920913800
-
Structural features of membrane-bound glucocerebrosidase and α-synuclein probed by neutron reflectometry and fluorescence spectroscopy
-
Yap, T.L.; Jiang, Z.; Heinrich, F.; Gruschus, J.M.; Pfefferkorn, C.M.; Barros, M.; Curtis, J.E.; Sidransky, E.; Lee, J.C. Structural features of membrane-bound glucocerebrosidase and α-synuclein probed by neutron reflectometry and fluorescence spectroscopy. J. Biol. Chem. 2015, 290, 744–754.
-
(2015)
J. Biol. Chem
, vol.290
, pp. 744-754
-
-
Yap, T.L.1
Jiang, Z.2
Heinrich, F.3
Gruschus, J.M.4
Pfefferkorn, C.M.5
Barros, M.6
Curtis, J.E.7
Sidransky, E.8
Lee, J.C.9
-
56
-
-
84899818136
-
Glucocerebrosidase is shaking up the synucleinopathies
-
Siebert, M.; Sidransky, E.; Westbroek, W. Glucocerebrosidase is shaking up the synucleinopathies. Brain J. Neurol. 2014, 137, 1304–1322.
-
(2014)
Brain J. Neurol
, vol.137
, pp. 1304-1322
-
-
Siebert, M.1
Sidransky, E.2
Westbroek, W.3
-
57
-
-
84991235229
-
New directions in Gaucher disease
-
Horowitz, M.; Elstein, D.; Zimran, A.; Goker-Alpan, O. New directions in Gaucher disease. Hum. Mutat. 2016, 37, 1121–1136.
-
(2016)
Hum. Mutat
, vol.37
, pp. 1121-1136
-
-
Horowitz, M.1
Elstein, D.2
Zimran, A.3
Goker-Alpan, O.4
-
58
-
-
84886020944
-
Saposin C protects glucocerebrosidase against α-synuclein inhibition
-
Yap, T.L.; Gruschus, J.M.; Velayati, A.; Sidransky, E.; Lee, J.C. Saposin C protects glucocerebrosidase against α-synuclein inhibition. Biochemistry 2013, 52, 7161–7163.
-
(2013)
Biochemistry
, vol.52
, pp. 7161-7163
-
-
Yap, T.L.1
Gruschus, J.M.2
Velayati, A.3
Sidransky, E.4
Lee, J.C.5
-
59
-
-
84878496452
-
Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature
-
Arends, M.; van Dussen, L.; Biegstraaten, M.; Hollak, C.E. Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature. Br. J. Haematol. 2013, 161, 832–842.
-
(2013)
Br. J. Haematol
, vol.161
, pp. 832-842
-
-
Arends, M.1
Van Dussen, L.2
Biegstraaten, M.3
Hollak, C.E.4
-
60
-
-
18844388455
-
Gaucher disease and cancer incidence: A study from the Gaucher Registry
-
Rosenbloom, B.E.; Weinreb, N.J.; Zimran, A.; Kacena, K.A.; Charrow, J.; Ward, E. 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
Kacena, K.A.4
Charrow, J.5
Ward, E.6
-
61
-
-
64549119033
-
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
-
Taddei, T.H.; Kacena, K.A.; Yang, M.; Yang, R.; Malhotra, A.; Boxer, M.; Aleck, K.A.; Rennert, G.; Pastores, G.M.; Mistry, P.K. The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk 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
Yang, R.4
Malhotra, A.5
Boxer, M.6
Aleck, K.A.7
Rennert, G.8
Pastores, G.M.9
Mistry, P.K.10
-
62
-
-
30344488170
-
Increased incidence of cancer in adult Gaucher disease in Western Europe
-
De Fost, M.; Vom Dahl, S.; Weverling, G.J.; Brill, N.; Brett, S.; Haussinger, D.; Hollak, C.E. 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
Brill, N.4
Brett, S.5
Haussinger, D.6
Hollak, C.E.7
-
63
-
-
34250312047
-
Risk of malignant disease among 1525 adult male US Veterans with Gaucher disease
-
Landgren, O.; Turesson, I.; Gridley, G.; Caporaso, N.E. Risk of malignant disease among 1525 adult male US Veterans with Gaucher disease. Arch. Intern. Med. 2007, 167, 1189–1194.
-
(2007)
Arch. Intern. Med
, vol.167
, pp. 1189-1194
-
-
Landgren, O.1
Turesson, I.2
Gridley, G.3
Caporaso, N.E.4
-
64
-
-
84950116107
-
Glucosylceramidases and malignancies in mammals
-
Astudillo, L.; Therville, N.; Colacios, C.; Segui, B.; Andrieu-Abadie, N.; Levade, T. Glucosylceramidases and malignancies in mammals. Biochimie 2015, 125, 267–280.
-
(2015)
Biochimie
, vol.125
, pp. 267-280
-
-
Astudillo, L.1
Therville, N.2
Colacios, C.3
Segui, B.4
Andrieu-Abadie, N.5
Levade, T.6
-
65
-
-
84875534621
-
Altered innate function of plasmacytoid dendritic cells restored by enzyme replacement therapy in Gaucher disease
-
Braudeau, C.; Graveleau, J.; Rimbert, M.; Neel, A.; Hamidou, M.; Grosbois, B.; Besancon, A.; Giraudet, S.; Terrien, C.; Josien, R.; et al. Altered innate function of plasmacytoid dendritic cells restored by enzyme replacement therapy in Gaucher disease. Blood Cells Mol. Dis. 2013, 50, 281–288.
-
(2013)
Blood Cells Mol. Dis
, vol.50
, pp. 281-288
-
-
Braudeau, C.1
Graveleau, J.2
Rimbert, M.3
Neel, A.4
Hamidou, M.5
Grosbois, B.6
Besancon, A.7
Giraudet, S.8
Terrien, C.9
Josien, R.10
-
66
-
-
0023371670
-
Abnormalities of cellular immunity and natural killer cells in Gaucher’s disease
-
[PubMed]
-
Burstein, Y.; Zakuth, V.; Rechavi, G.; Spirer, Z. Abnormalities of cellular immunity and natural killer cells in Gaucher’s disease. J. Clin. Lab. Immunol. 1987, 23, 149–151. [PubMed]
-
(1987)
J. Clin. Lab. Immunol
, vol.23
, pp. 149-151
-
-
Burstein, Y.1
Zakuth, V.2
Rechavi, G.3
Spirer, Z.4
-
67
-
-
84885139621
-
B cell lymphoma and myeloma in murine Gaucher’s disease
-
Pavlova, E.V.; Wang, S.Z.; Archer, J.; Dekker, N.; Aerts, J.M.; Karlsson, S.; Cox, T.M. B cell lymphoma and myeloma in murine Gaucher’s disease. J. Pathol. 2013, 231, 88–97.
-
(2013)
J. Pathol
, vol.231
, pp. 88-97
-
-
Pavlova, E.V.1
Wang, S.Z.2
Archer, J.3
Dekker, N.4
Aerts, J.M.5
Karlsson, S.6
Cox, T.M.7
-
68
-
-
84916227639
-
Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy
-
Pavlova, E.V.; Archer, J.; Wang, S.; Dekker, N.; Aerts, J.M.; Karlsson, S.; Cox, T.M. Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy. J. Pathol. 2015, 235, 113–124.
-
(2015)
J. Pathol
, vol.235
, pp. 113-124
-
-
Pavlova, E.V.1
Archer, J.2
Wang, S.3
Dekker, N.4
Aerts, J.M.5
Karlsson, S.6
Cox, T.M.7
-
69
-
-
84959307535
-
Clonal immunoglobulin against lysolipids in the origin of myeloma
-
Nair, S.; Branagan, A.R.; Liu, J.; Boddupalli, C.S.; Mistry, P.K.; Dhodapkar, M.V. Clonal immunoglobulin against lysolipids in the origin of myeloma. N. Engl. J. Med. 2016, 374, 555–561.
-
(2016)
N. Engl. J. Med
, vol.374
, pp. 555-561
-
-
Nair, S.1
Branagan, A.R.2
Liu, J.3
Boddupalli, C.S.4
Mistry, P.K.5
Dhodapkar, M.V.6
-
70
-
-
84908116724
-
Iron homeostasis and infIammatory biomarker analysis in patients with type 1 Gaucher disease
-
Medrano-Engay, B.; Irun, P.; Gervas-Arruga, J.; Andrade-Campos, M.; Andreu, V.; Alfonso, P.; Pocovi, M.; Giraldo, P. Iron homeostasis and infIammatory biomarker analysis in patients with type 1 Gaucher disease. Blood Cells Mol. Dis. 2014, 53, 171–175.
-
(2014)
Blood Cells Mol. Dis
, vol.53
, pp. 171-175
-
-
Medrano-Engay, B.1
Irun, P.2
Gervas-Arruga, J.3
Andrade-Campos, M.4
Andreu, V.5
Alfonso, P.6
Pocovi, M.7
Giraldo, P.8
-
71
-
-
78650818524
-
Impact of imiglucerase on the serum glycosylated-ferritin level in Gaucher disease
-
Stirnemann, J.; Boutten, A.; Vincent, C.; Mekinian, A.; Heraoui, D.; Fantin, B.; Fain, O.; Mentre, F.; Belmatoug, N. Impact of imiglucerase on the serum glycosylated-ferritin level in Gaucher disease. Blood Cells Mol. Dis. 2011, 46, 34–38.
-
(2011)
Blood Cells Mol. Dis
, vol.46
, pp. 34-38
-
-
Stirnemann, J.1
Boutten, A.2
Vincent, C.3
Mekinian, A.4
Heraoui, D.5
Fantin, B.6
Fain, O.7
Mentre, F.8
Belmatoug, N.9
-
72
-
-
77955287115
-
Bone events and evolution of biologic markers in Gaucher disease before and during treatment
-
Stirnemann, J.; Belmatoug, N.; Vincent, C.; Fain, O.; Fantin, B.; Mentre, F. Bone events and evolution of biologic markers in Gaucher disease before and during treatment. Arthritis Res. Ther. 2010, 12, R156.
-
(2010)
Arthritis Res. Ther
, vol.12
-
-
Stirnemann, J.1
Belmatoug, N.2
Vincent, C.3
Fain, O.4
Fantin, B.5
Mentre, F.6
-
73
-
-
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
-
74
-
-
0034626360
-
The Gaucher registry: Demographics and disease characteristics of 1698 patients with Gaucher disease
-
Charrow, J.; Andersson, H.C.; Kaplan, P.; Kolodny, E.H.; Mistry, P.; Pastores, G.; Rosenbloom, B.E.; Scott, C.R.; Wappner, R.S.; Weinreb, N.J.; 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
Kolodny, E.H.4
Mistry, P.5
Pastores, G.6
Rosenbloom, B.E.7
Scott, C.R.8
Wappner, R.S.9
Weinreb, N.J.10
-
75
-
-
33744957572
-
The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis
-
Kaplan, P.; Andersson, H.C.; Kacena, K.A.; Yee, J.D. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch. Pediatrics Adolesc. Med. 2006, 160, 603–608.
-
(2006)
Arch. Pediatrics Adolesc. Med
, vol.160
, pp. 603-608
-
-
Kaplan, P.1
Andersson, H.C.2
Kacena, K.A.3
Yee, J.D.4
-
76
-
-
84932136637
-
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry
-
Grabowski, G.A.; Zimran, A.; Ida, H. Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. Am. J. Hematol. 2015, 90 (Suppl. S1), S12–S18.
-
(2015)
Am. J. Hematol
, vol.90
, pp. S12-S18
-
-
Grabowski, G.A.1
Zimran, A.2
Ida, H.3
-
77
-
-
0022462206
-
Gaucher disease: Sonographic appearance of the spleen
-
Hill, S.C.; Reinig, J.W.; Barranger, J.A.; Fink, J.; Shawker, T.H. Gaucher disease: Sonographic appearance of the spleen. Radiology 1986, 160, 631–634.
-
(1986)
Radiology
, vol.160
, pp. 631-634
-
-
Hill, S.C.1
Reinig, J.W.2
Barranger, J.A.3
Fink, J.4
Shawker, T.H.5
-
78
-
-
0030944777
-
Abdominal ultrasound findings mimicking hematological malignancies in a study of 218 Gaucher patients
-
Neudorfer, O.; Hadas-Halpern, I.; Elstein, D.; Abrahamov, A.; Zimran, A. Abdominal ultrasound findings mimicking hematological malignancies in a study of 218 Gaucher patients. Am. J. Hematol. 1997, 55, 28–34.
-
(1997)
Am. J. Hematol
, vol.55
, pp. 28-34
-
-
Neudorfer, O.1
Hadas-Halpern, I.2
Elstein, D.3
Abrahamov, A.4
Zimran, A.5
-
79
-
-
84978959019
-
Imaging characteristics of focal splenic and hepatic lesions in type 1 Gaucher disease
-
Regenboog, M.; Bohte, A.E.; Somers, I.; van Delden, O.M.; Maas, M.; Hollak, C.E. Imaging characteristics of focal splenic and hepatic lesions in type 1 Gaucher disease. Blood Cells Mol. Dis. 2016, 60, 49–57.
-
(2016)
Blood Cells Mol. Dis
, vol.60
, pp. 49-57
-
-
Regenboog, M.1
Bohte, A.E.2
Somers, I.3
Van Delden, O.M.4
Maas, M.5
Hollak, C.E.6
-
80
-
-
84923060196
-
Hemorrhagic aspects of Gaucher disease
-
Rosenbaum, H. Hemorrhagic aspects of Gaucher disease. Rambam Maimonides Med. J. 2014, 5, e0039.
-
(2014)
Rambam Maimonides Med. J
, vol.5
-
-
Rosenbaum, H.1
-
81
-
-
0032977820
-
Platelet function abnormalities in Gaucher disease patients
-
Gillis, S.; Hyam, E.; Abrahamov, A.; Elstein, D.; Zimran, A. Platelet function abnormalities in Gaucher disease patients. Am. J. Hematol. 1999, 61, 103–106.
-
(1999)
Am. J. Hematol
, vol.61
, pp. 103-106
-
-
Gillis, S.1
Hyam, E.2
Abrahamov, A.3
Elstein, D.4
Zimran, A.5
-
82
-
-
0036078725
-
Skeletal aspects of Gaucher disease: A review
-
Wenstrup, R.J.; Roca-Espiau, M.; Weinreb, N.J.; Bembi, B. Skeletal aspects of Gaucher disease: A review. Br. J. Radiol. 2002, 75 (Suppl. S1), A2–A12.
-
(2002)
Br. J. Radiol
, vol.75
, pp. AA2-A12
-
-
Wenstrup, R.J.1
Roca-Espiau, M.2
Weinreb, N.J.3
Bembi, B.4
-
83
-
-
84929509978
-
The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders
-
Clarke, L.A.; Hollak, C.E. The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. Best Pract. Res. Clin. Endocrinol. Metab. 2015, 29, 219–235.
-
(2015)
Best Pract. Res. Clin. Endocrinol. Metab
, vol.29
, pp. 219-235
-
-
Clarke, L.A.1
Hollak, C.E.2
-
84
-
-
84919418204
-
Gaucher disease and bone manifestations
-
Marcucci, G.; Zimran, A.; Bembi, B.; Kanis, J.; Reginster, J.Y.; Rizzoli, R.; Cooper, C.; Brandi, M.L. Gaucher disease and bone manifestations. Calcif. Tissue Int. 2014, 95, 477–494.
-
(2014)
Calcif. Tissue Int
, vol.95
, pp. 477-494
-
-
Marcucci, G.1
Zimran, A.2
Bembi, B.3
Kanis, J.4
Reginster, J.Y.5
Rizzoli, R.6
Cooper, C.7
Brandi, M.L.8
-
85
-
-
0013789811
-
Aseptic osteomyelitis in Gaucher’s disease
-
[PubMed]
-
Yossipovitch, Z.H.; Herman, G.; Makin, M. Aseptic osteomyelitis in Gaucher’s disease. Isr. J. Med. Sci. 1965, 1, 531–536. [PubMed]
-
(1965)
Isr. J. Med. Sci
, vol.1
, pp. 531-536
-
-
Yossipovitch, Z.H.1
Herman, G.2
Makin, M.3
-
86
-
-
0029910836
-
Bone density in Type 1 Gaucher disease
-
Pastores, G.M.; Wallenstein, S.; Desnick, R.J.; Luckey, M.M. Bone density in Type 1 Gaucher disease. J. Bone Miner. Res. Off. J. Am. Soc. Bone Miner. Res. 1996, 11, 1801–1807.
-
(1996)
J. Bone Miner. Res. Off. J. Am. Soc. Bone Miner. Res
, vol.11
, pp. 1801-1807
-
-
Pastores, G.M.1
Wallenstein, S.2
Desnick, R.J.3
Luckey, M.M.4
-
87
-
-
78651236390
-
Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy
-
Deegan, P.B.; Pavlova, E.; Tindall, J.; Stein, P.E.; Bearcroft, P.; Mehta, A.; Hughes, D.; Wraith, J.E.; Cox, T.M. Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine 2011, 90, 52–60.
-
(2011)
Medicine
, vol.90
, pp. 52-60
-
-
Deegan, P.B.1
Pavlova, E.2
Tindall, J.3
Stein, P.E.4
Bearcroft, P.5
Mehta, A.6
Hughes, D.7
Wraith, J.E.8
Cox, T.M.9
-
88
-
-
0033800292
-
Extraosseous manifestation of Gaucher’s disease type I: MR and histological appearance
-
Poll, L.W.; Koch, J.A.; vom Dahl, S.; Loxtermann, E.; Sarbia, M.; Niederau, C.; Haussinger, D.; Modder, U. Extraosseous manifestation of Gaucher’s 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
Vom Dahl, S.3
Loxtermann, E.4
Sarbia, M.5
Niederau, C.6
Haussinger, D.7
Modder, U.8
-
89
-
-
77956894497
-
Primary bone angiosarcoma in a patient with Gaucher disease
-
Zver, S.; Bracko, M.; Andoljsek, D. Primary bone angiosarcoma in a patient with Gaucher disease. Int. J. Hematol. 2010, 92, 374–377.
-
(2010)
Int. J. Hematol
, vol.92
, pp. 374-377
-
-
Zver, S.1
Bracko, M.2
Andoljsek, D.3
-
90
-
-
0029826931
-
Osteoblastoma of the humerus associated with type-I Gaucher’s disease
-
Kenan, S.; Abdelwahab, I.F.; Hermann, G.; Klein, M.; Pastores, G. Osteoblastoma of the humerus associated with type-I Gaucher’s disease. A case report. J. Bone Joint Surg. Br. Vol. 1996, 78, 702–705.
-
(1996)
A Case Report. J. Bone Joint Surg. Br
, vol.78
, pp. 702-705
-
-
Kenan, S.1
Abdelwahab, I.F.2
Hermann, G.3
Klein, M.4
Pastores, G.5
-
91
-
-
0036073124
-
Bone complications in children with Gaucher disease
-
Bembi, B.; Ciana, G.; Mengel,E.; Terk, M.R.; Martini, C.; Wenstrup, R.J. Bone complications in children with Gaucher disease. Br. J. Radiol. 2002, 75 (Suppl. S1), A37–A44.
-
(2002)
Br. J. Radiol
, vol.75
, pp. A37-A44
-
-
Bembi, B.1
Ciana, G.2
Mengel, E.3
Terk, M.R.4
Martini, C.5
Wenstrup, R.J.6
-
92
-
-
66349084730
-
The Erlenmeyer flask bone deformity in the skeletal dysplasias
-
Faden, M.A.; Krakow, D.; Ezgu, F.; Rimoin, D.L.; Lachman, R.S. The Erlenmeyer flask bone deformity in the skeletal dysplasias. Am. J. Med. Genet. Part A 2009, 149A, 1334–1345.
-
(2009)
Am. J. Med. Genet
, vol.149
, pp. 1334-1345
-
-
Faden, M.A.1
Krakow, D.2
Ezgu, F.3
Rimoin, D.L.4
Lachman, R.S.5
-
93
-
-
0032999790
-
Pulmonary pathology in Gaucher’s disease
-
Amir, G.; Ron, N. Pulmonary pathology in Gaucher’s disease. Hum. Pathol. 1999, 30, 666–670.
-
(1999)
Hum. Pathol
, vol.30
, pp. 666-670
-
-
Amir, G.1
Ron, N.2
-
94
-
-
0036399154
-
Pulmonary hypertension in type 1 Gaucher’s disease: Genetic and epigenetic determinants of phenotype and response to therapy
-
Mistry, P.K.; Sirrs, S.; Chan, A.; Pritzker, M.R.; Duffy, T.P.; Grace, M.E.; Meeker, D.P.; Goldman, M.E. 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
Pritzker, M.R.4
Duffy, T.P.5
Grace, M.E.6
Meeker, D.P.7
Goldman, M.E.8
-
95
-
-
0031948882
-
Pulmonary manifestations of Gaucher disease: An increased risk for L444P homozygotes?
-
Santamaria, F.; Parenti, G.; Guidi, G.; Filocamo, M.; Strisciuglio, P.; Grillo, G.; Farina, V.; Sarnelli, P.; Rizzolo, M.G.; Rotondo, A.; et al. Pulmonary manifestations of Gaucher disease: An increased risk for L444P homozygotes? Am. J. Respir. Critic. Care Med. 1998, 157, 985–989.
-
(1998)
Am. J. Respir. Critic. Care Med
, vol.157
, pp. 985-989
-
-
Santamaria, F.1
Parenti, G.2
Guidi, G.3
Filocamo, M.4
Strisciuglio, P.5
Grillo, G.6
Farina, V.7
Sarnelli, P.8
Rizzolo, M.G.9
Rotondo, A.10
-
96
-
-
19044364702
-
Gaucher disease with nephrotic syndrome: Response to enzyme replacement therapy
-
Santoro, D.; Rosenbloom, B.E.; Cohen, A.H. Gaucher disease with nephrotic syndrome: Response to enzyme replacement therapy. Am. J. Kidney Dis. 2002, 40, E4.
-
(2002)
Am. J. Kidney Dis
, vol.40
-
-
Santoro, D.1
Rosenbloom, B.E.2
Cohen, A.H.3
-
97
-
-
0021152317
-
Cutaneous manifestations of Gaucher disease
-
Goldblatt, J.; Beighton, P. Cutaneous manifestations of Gaucher disease. Br. J. Dermatol. 1984, 111, 331–334.
-
(1984)
Br. J. Dermatol
, vol.111
, pp. 331-334
-
-
Goldblatt, J.1
Beighton, P.2
-
98
-
-
16344367428
-
Chronic uveitis in Gaucher’s disease
-
Raz, J.; Anteby, I.; Livni, N.; Benezra, D. Chronic uveitis in Gaucher’s disease. Ocular Immunol. Inflamm. 1993, 1, 119–124.
-
(1993)
Ocular Immunol. Inflamm
, vol.1
, pp. 119-124
-
-
Raz, J.1
Anteby, I.2
Livni, N.3
Benezra, D.4
-
99
-
-
84861156129
-
A branch retinal artery occlusion in a patient with Gaucher disease. Graefes Arch. Clin
-
Bruscolini, A.; Pirraglia, M.P.; Restivo, L.; Spinucci, G.; Abbouda, A. A branch retinal artery occlusion in a patient with Gaucher disease. Graefes Arch. Clin. Exp. Ophthalmol. 2012, 250, 441–444.
-
(2012)
Exp. Ophthalmol
, vol.250
, pp. 441-444
-
-
Bruscolini, A.1
Pirraglia, M.P.2
Restivo, L.3
Spinucci, G.4
Abbouda, A.5
-
100
-
-
0016695840
-
Ocular manifestations of Gaucher’s disease
-
Petrohelos, M.; Tricoulis, D.; Kotsiras, I.; Vouzoukos, A. Ocular manifestations of Gaucher’s disease. Am. J. Ophthalmol. 1975, 80, 1006–1010.
-
(1975)
Am. J. Ophthalmol
, vol.80
, pp. 1006-1010
-
-
Petrohelos, M.1
Tricoulis, D.2
Kotsiras, I.3
Vouzoukos, A.4
-
101
-
-
85013341955
-
The role of cardiac magnetic resonance to assess the cardiac involvement in Gaucher type 1 patients
-
Roghi, A.; Poggiali, E.; Cassinerio, E.; Pedrotti, P.; Giuditta, M.; Milazzo, A.; Quattrocchi, G.; Cappellini, M.D. The role of cardiac magnetic resonance to assess the cardiac involvement in Gaucher type 1 patients: Morphological and functional evaluations. J. Cardiovasc. Med. 2016.
-
(2016)
Morphological and Functional Evaluations. J. Cardiovasc. Med
-
-
Roghi, A.1
Poggiali, E.2
Cassinerio, E.3
Pedrotti, P.4
Giuditta, M.5
Milazzo, A.6
Quattrocchi, G.7
Cappellini, M.D.8
-
102
-
-
41949110081
-
Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy
-
Langeveld, M.; de Fost, M.; Aerts, J.M.; Sauerwein, H.P.; Hollak, C.E. Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy. Blood Cells Mol. Dis. 2008, 40, 428–432.
-
(2008)
Blood Cells Mol. Dis
, vol.40
, pp. 428-432
-
-
Langeveld, M.1
De Fost, M.2
Aerts, J.M.3
Sauerwein, H.P.4
Hollak, C.E.5
-
103
-
-
0041508604
-
Amyloidosis and gastric bleeding in a patient with Gaucher disease
-
Elstein, D.; Rosenmann, E.; Reinus, C.; Paz, J.; Altarescu, G.; Zimran, A. Amyloidosis and gastric bleeding in a patient with Gaucher disease. J. Clin. Gastroenterol. 2003, 37, 234–237.
-
(2003)
J. Clin. Gastroenterol
, vol.37
, pp. 234-237
-
-
Elstein, D.1
Rosenmann, E.2
Reinus, C.3
Paz, J.4
Altarescu, G.5
Zimran, A.6
-
104
-
-
10544246903
-
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency
-
Hrebicek, M.; Zeman, J.; Musilova, J.; Hodanova, K.; Renkema, G.H.; Veprekova, L.; Ledvinova, J.; Hrebicek, D.; Sokolova, J.; Aerts, J.M.; et al. A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency. Virchows Arch. Int. J. Pathol. 1996, 429, 305–309.
-
(1996)
Virchows Arch. Int. J. Pathol
, vol.429
, pp. 305-309
-
-
Hrebicek, M.1
Zeman, J.2
Musilova, J.3
Hodanova, K.4
Renkema, G.H.5
Veprekova, L.6
Ledvinova, J.7
Hrebicek, D.8
Sokolova, J.9
Aerts, J.M.10
-
105
-
-
0018231589
-
Primary amyloidosis associated with Gaucher’s disease
-
Hanash, S.M.; Rucknagel, D.L.; Heidelberger, K.P.; Radin, N.S. Primary amyloidosis associated with Gaucher’s disease. Ann. Intern. Med. 1978, 89, 639–641.
-
(1978)
Ann. Intern. Med
, vol.89
, pp. 639-641
-
-
Hanash, S.M.1
Rucknagel, D.L.2
Heidelberger, K.P.3
Radin, N.S.4
-
106
-
-
84902140288
-
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes
-
Alcalay, R.N.; Dinur, T.; Quinn, T.; Sakanaka, K.; Levy, O.; Waters, C.; Fahn, S.; Dorovski, T.; Chung, W.K.; Pauciulo, M.; et al. Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol. 2014, 71, 752–757.
-
(2014)
JAMA Neurol
, vol.71
, pp. 752-757
-
-
Alcalay, R.N.1
Dinur, T.2
Quinn, T.3
Sakanaka, K.4
Levy, O.5
Waters, C.6
Fahn, S.7
Dorovski, T.8
Chung, W.K.9
Pauciulo, M.10
-
107
-
-
77953229340
-
The risk of Parkinson’s disease in type 1 Gaucher disease
-
Bultron, G.; Kacena, K.; Pearson, D.; Boxer, M.; Yang, R.; Sathe, S.; Pastores, G.; Mistry, P.K. 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
Boxer, M.4
Yang, R.5
Sathe, S.6
Pastores, G.7
Mistry, P.K.8
-
108
-
-
77957680068
-
Peripheral neuropathy in adult type 1 Gaucher disease: A 2-year prospective observational study
-
Biegstraaten, M.; Mengel, E.; Marodi, L.; Petakov, M.; Niederau, C.; Giraldo, P.; Hughes, D.; Mrsic, M.; Mehta, A.; Hollak, C.E.; et al. Peripheral neuropathy in adult type 1 Gaucher disease: A 2-year prospective observational study. Brain J. Neurol. 2010, 133, 2909–2919.
-
(2010)
Brain J. Neurol
, vol.133
, pp. 2909-2919
-
-
Biegstraaten, M.1
Mengel, E.2
Marodi, L.3
Petakov, M.4
Niederau, C.5
Giraldo, P.6
Hughes, D.7
Mrsic, M.8
Mehta, A.9
Hollak, C.E.10
-
109
-
-
67649639657
-
Clinical and genetic study of Japanese patients with type 3 Gaucher disease
-
Tajima, A.; Yokoi, T.; Ariga, M.; Ito, T.; Kaneshiro, E.; Eto, Y.; Ida, H. Clinical and genetic study of Japanese patients with type 3 Gaucher disease. Mol. Genet. Metab. 2009, 97, 272–277.
-
(2009)
Mol. Genet. Metab
, vol.97
, pp. 272-277
-
-
Tajima, A.1
Yokoi, T.2
Ariga, M.3
Ito, T.4
Kaneshiro, E.5
Eto, Y.6
Ida, H.7
-
110
-
-
77956064508
-
Neuronopathic Gaucher disease: Demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry
-
Tylki-Szymanska, A.; Vellodi, A.; El-Beshlawy, A.; Cole, J.A.; Kolodny, E. Neuronopathic Gaucher disease: Demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. J. Inherit. Metab. Dis. 2010, 33, 339–346.
-
(2010)
J. Inherit. Metab. Dis
, vol.33
, pp. 339-346
-
-
Tylki-Szymanska, A.1
Vellodi, A.2
El-Beshlawy, A.3
Cole, J.A.4
Kolodny, E.5
-
111
-
-
78650805110
-
A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
-
Kraoua, I.; Sedel, F.; Caillaud, C.; Froissart, R.; Stirnemann, J.; Chaurand, G.; Flodrops, H.; Tari, S.; Gourfinkel-An, I.; Mathieu, S.; et al. A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients. Brain Dev. 2011, 33, 131–139.
-
(2011)
Brain Dev
, vol.33
, pp. 131-139
-
-
Kraoua, I.1
Sedel, F.2
Caillaud, C.3
Froissart, R.4
Stirnemann, J.5
Chaurand, G.6
Flodrops, H.7
Tari, S.8
Gourfinkel-An, I.9
Mathieu, S.10
-
112
-
-
85011285125
-
Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt
-
Abdelwahab, M.; Blankenship, D.; Schiffmann, R. Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt. Neurol. Genet. 2016, 2, e55.
-
(2016)
Neurol. Genet
, vol.2
-
-
Abdelwahab, M.1
Blankenship, D.2
Schiffmann, R.3
-
113
-
-
0035005865
-
Severe valvular and aortic arch calcification in a patient with Gaucher’s disease homozygous for the D409H mutation
-
George, R.; McMahon, J.; Lytle, B.; Clark, B.; Lichtin, A. Severe valvular and aortic arch calcification in a patient with Gaucher’s disease homozygous for the D409H mutation. Clin. Genet. 2001, 59, 360–363.
-
(2001)
Clin. Genet
, vol.59
, pp. 360-363
-
-
George, R.1
McMahon, J.2
Lytle, B.3
Clark, B.4
Lichtin, A.5
-
114
-
-
74949123118
-
Gaucher disease with communicating hydrocephalus and cardiac involvement
-
Cindik, N.; Ozcay, F.; Suren, D.; Akkoyun, I.; Gokdemir, M.; Varan, B.; Alehan, F.; Ozbek, N.; Tokel, K. Gaucher disease with communicating hydrocephalus and cardiac involvement. Clin. Cardiol. 2010, 33, E26–E30.
-
(2010)
Clin. Cardiol
, vol.33
, pp. E26-E30
-
-
Cindik, N.1
Ozcay, F.2
Suren, D.3
Akkoyun, I.4
Gokdemir, M.5
Varan, B.6
Alehan, F.7
Ozbek, N.8
Tokel, K.9
-
115
-
-
84862571492
-
The role of saposin C in Gaucher disease
-
Tamargo, R.J.; Velayati, A.; Goldin, E.; Sidransky, E. The role of saposin C in Gaucher disease. Mol. Genet. Metab. 2012, 106, 257–263.
-
(2012)
Mol. Genet. Metab
, vol.106
, pp. 257-263
-
-
Tamargo, R.J.1
Velayati, A.2
Goldin, E.3
Sidransky, E.4
-
116
-
-
29944445980
-
French Type 2 Gaucher Disease Study Group. Type 2 Gaucher disease: 15 new cases and review of the literature
-
Mignot, C.; Doummar, D.; Maire, I.; De Villemeur, T.B.; French Type 2 Gaucher Disease Study Group. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev. 2006, 28, 39–48.
-
(2006)
Brain Dev
, vol.28
, pp. 39-48
-
-
Mignot, C.1
Doummar, D.2
Maire, I.3
De Villemeur, T.B.4
-
117
-
-
84876822285
-
Gaucher disease
-
[PubMed]
-
Mignot, C.; Gelot, A.; De Villemeur, T.B. Gaucher disease. Handb. Clin. Neurol. 2013, 113, 1709–1715. [PubMed]
-
(2013)
Handb. Clin. Neurol
, vol.113
, pp. 1709-1715
-
-
Mignot, C.1
Gelot, A.2
De Villemeur, T.B.3
-
118
-
-
10744229216
-
Perinatal-lethal Gaucher disease
-
Mignot, C.; Gelot, A.; Bessieres, B.; Daffos, F.; Voyer, M.; Menez, F.; Fallet Bianco, C.; Odent, S.; Le Duff, D.; Loget, P.; et al. Perinatal-lethal Gaucher disease. Am. J. Med. Genet. Part A 2003, 120A, 338–344.
-
(2003)
Am. J. Med. Genet
, vol.120
, pp. 338-344
-
-
Mignot, C.1
Gelot, A.2
Bessieres, B.3
Daffos, F.4
Voyer, M.5
Menez, F.6
Fallet Bianco, C.7
Odent, S.8
Le Duff, D.9
Loget, P.10
-
119
-
-
0025826050
-
Lysosomal storage diseases
-
Neufeld, E.F. Lysosomal storage diseases. Annu. Rev. Biochem. 1991, 60, 257–280.
-
(1991)
Annu. Rev. Biochem
, vol.60
, pp. 257-280
-
-
Neufeld, E.F.1
-
120
-
-
84859214491
-
The uptake of recombinant glucocerebrosidases by blood monocytes from type 1 Gaucher disease patients is variable
-
Berger, J.; Stirnemann, J.; Bourgne, C.; Pereira, B.; Pigeon, P.; Heraoui, D.; Froissart, R.; Rapatel, C.; Rose, C.; Belmatoug, N.; et al. The uptake of recombinant glucocerebrosidases by blood monocytes from type 1 Gaucher disease patients is variable. Br. J. Haematol. 2012, 157, 274–277.
-
(2012)
Br. J. Haematol
, vol.157
, pp. 274-277
-
-
Berger, J.1
Stirnemann, J.2
Bourgne, C.3
Pereira, B.4
Pigeon, P.5
Heraoui, D.6
Froissart, R.7
Rapatel, C.8
Rose, C.9
Belmatoug, N.10
-
121
-
-
33747694327
-
Gaucher disease and multiple myeloma
-
Costello, R.; O’Callaghan, T.; Sebahoun, G. Gaucher disease and multiple myeloma. Leukemia Lymphoma 2006, 47, 1365–1368.
-
(2006)
Leukemia Lymphoma
, vol.47
, pp. 1365-1368
-
-
Costello, R.1
O’Callaghan, T.2
Sebahoun, G.3
-
122
-
-
0036892542
-
Lymphoplasmacytic lymphoma with monoclonal gammopathy-related pseudo-Gaucher cell infiltration in bone marrow and spleen—Diagnostic and therapeutic dilemmas
-
Robak, T.; Urbanska-Rys, H.; Jerzmanowski, P.; Bartkowiak, J.; Liberski, P.; Kordek, R. Lymphoplasmacytic lymphoma with monoclonal gammopathy-related pseudo-Gaucher cell infiltration in bone marrow and spleen—Diagnostic and therapeutic dilemmas. Leukemia Lymphoma 2002, 43, 2343–2350.
-
(2002)
Leukemia Lymphoma
, vol.43
, pp. 2343-2350
-
-
Robak, T.1
Urbanska-Rys, H.2
Jerzmanowski, P.3
Bartkowiak, J.4
Liberski, P.5
Kordek, R.6
-
123
-
-
84891120180
-
Chronic myeloid leukemia with marked splenomegaly and pseudo-Gaucher cells
-
Yang, H.S.; Cho, K.S.; Park, T.S. Chronic myeloid leukemia with marked splenomegaly and pseudo-Gaucher cells. Blood Res. 2013, 48, 241.
-
(2013)
Blood Res
, vol.48
, pp. 241
-
-
Yang, H.S.1
Cho, K.S.2
Park, T.S.3
-
124
-
-
0033461185
-
Pseudo-Gaucher cells in myelodysplasia
-
Stewart, A.J.; Jones, R.D. Pseudo-Gaucher cells in myelodysplasia. J. Clin. Pathol. 1999, 52, 917–918.
-
(1999)
J. Clin. Pathol
, vol.52
, pp. 917-918
-
-
Stewart, A.J.1
Jones, R.D.2
-
125
-
-
84872901341
-
Pseudo-Gaucher cells in disseminated mycobacterial infection
-
Busarla, S.V.; Sadruddin, F.A.; Sohani, A.R. Pseudo-Gaucher cells in disseminated mycobacterial infection. Am. J. Hematol. 2013, 88, 155.
-
(2013)
Am. J. Hematol
, vol.88
, pp. 155
-
-
Busarla, S.V.1
Sadruddin, F.A.2
Sohani, A.R.3
-
126
-
-
0024572637
-
The human glucocerebrosidase gene and pseudogene: Structure and evolution
-
Horowitz, M.; Wilder, S.; Horowitz, Z.; Reiner, O.; Gelbart, T.; Beutler, E. 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
Reiner, O.4
Gelbart, T.5
Beutler, E.6
-
127
-
-
0033911997
-
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
-
Koprivica, V.; Stone, D.L.; Park, J.K.; Callahan, M.; Frisch, A.; Cohen, I.J.; Tayebi, N.; Sidransky, E. 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
Callahan, M.4
Frisch, A.5
Cohen, I.J.6
Tayebi, N.7
Sidransky, E.8
-
128
-
-
84988978040
-
Prenatal diagnosis of Gaucher disease using next-generation sequencing
-
Yoshida, S.; Kido, J.; Matsumoto, S.; Momosaki, K.; Mitsubuchi, H.; Shimazu, T.; Sugawara, K.; Endo, F.; Nakamura, K. Prenatal diagnosis of Gaucher disease using next-generation sequencing. Pediatr. Int. 2016, 58, 946–949.
-
(2016)
Pediatr. Int
, vol.58
, pp. 946-949
-
-
Yoshida, S.1
Kido, J.2
Matsumoto, S.3
Momosaki, K.4
Mitsubuchi, H.5
Shimazu, T.6
Sugawara, K.7
Endo, F.8
Nakamura, K.9
-
129
-
-
84864315867
-
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4–5 years
-
Hollak, C.E.; Belmatoug, N.; Cole, J.A.; Vom Dahl, S.; Deegan, P.B.; Goldblatt, J.; Rosenbloom, B.; van Dussen, L.; Tylki-Szymanska, A.; Weinreb, N.J.; et al. Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4–5 years. Br. J. Haematol. 2012, 158, 528–538.
-
(2012)
Br. J. Haematol
, vol.158
, pp. 528-538
-
-
Hollak, C.E.1
Belmatoug, N.2
Cole, J.A.3
Vom Dahl, S.4
Deegan, P.B.5
Goldblatt, J.6
Rosenbloom, B.7
Van Dussen, L.8
Tylki-Szymanska, A.9
-
130
-
-
84895539616
-
Acquired von Willebrand syndrome in patients with Gaucher disease
-
Mitrovic, M.; Elezovic, I.; Miljic, P.; Suvajdzic, N. Acquired von Willebrand syndrome in patients with Gaucher disease. Blood Cells Mol. Dis. 2014, 52, 205–207.
-
(2014)
Blood Cells Mol. Dis
, vol.52
, pp. 205-207
-
-
Mitrovic, M.1
Elezovic, I.2
Miljic, P.3
Suvajdzic, N.4
-
131
-
-
79953842411
-
Platelet adhesion defect in type I Gaucher Disease is associated with a risk of mucosal bleeding
-
Spectre, G.; Roth, B.; Ronen, G.; Rosengarten, D.; Elstein, D.; Zimran, A.; Varon, D.; Revel-Vilk, S. Platelet adhesion defect in type I Gaucher Disease is associated with a risk of mucosal bleeding. Br. J. Haematol. 2011, 153, 372–378.
-
(2011)
Br. J. Haematol
, vol.153
, pp. 372-378
-
-
Spectre, G.1
Roth, B.2
Ronen, G.3
Rosengarten, D.4
Elstein, D.5
Zimran, A.6
Varon, D.7
Revel-Vilk, S.8
-
132
-
-
68649086144
-
Gaucher disease and monoclonal gammopathy: A report of 17 cases and impact of therapy
-
Grosbois, B.; Rose, C.; Noel, E.; Serratrice Cde, R.; Dobbelaere, D.; Gressin, V.; Cherin, P.; Hartmann, A.; Javier, R.M.; Clerson, P.; et al. Gaucher disease and monoclonal gammopathy: A report of 17 cases and impact of therapy. Blood Cells Mol. Dis. 2009, 43, 138–139.
-
(2009)
Blood Cells Mol. Dis
, vol.43
, pp. 138-139
-
-
Grosbois, B.1
Rose, C.2
Noel, E.3
Serratrice Cde, R.4
Dobbelaere, D.5
Gressin, V.6
Cherin, P.7
Hartmann, A.8
Javier, R.M.9
Clerson, P.10
-
133
-
-
42549170751
-
Immunoglobulin and free light chain abnormalities in Gaucher disease type I: Data from an adult cohort of 63 patients and review of the literature
-
De Fost, M.; Out, T.A.; de Wilde, F.A.; Tjin, E.P.; Pals, S.T.; van Oers, M.H.; Boot, R.G.; Aerts, J.F.; Maas, M.; Vom Dahl, S.; et al. Immunoglobulin and free light chain abnormalities in Gaucher disease type I: Data from an adult cohort of 63 patients and review of the literature. Ann. Hematol. 2008, 87, 439–449.
-
(2008)
Ann. Hematol
, vol.87
, pp. 439-449
-
-
De Fost, M.1
Out, T.A.2
De Wilde, F.A.3
Tjin, E.P.4
Pals, S.T.5
Van Oers, M.H.6
Boot, R.G.7
Aerts, J.F.8
Maas, M.9
Vom Dahl, S.10
-
134
-
-
0742306870
-
Effect of enzyme replacement therapy on gammopathies in Gaucher disease
-
Brautbar, A.; Elstein, D.; Pines, G.; Abrahamov, A.; Zimran, A. Effect of enzyme replacement therapy on gammopathies in Gaucher disease. Blood Cells Mol. Dis. 2004, 32, 214–217.
-
(2004)
Blood Cells Mol. Dis
, vol.32
, pp. 214-217
-
-
Brautbar, A.1
Elstein, D.2
Pines, G.3
Abrahamov, A.4
Zimran, A.5
-
135
-
-
0028220472
-
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease
-
Hollak, C.E.; van Weely, S.; van Oers, M.H.; Aerts, J.M. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Investig. 1994, 93, 1288–1292.
-
(1994)
J. Clin. Investig
, vol.93
, pp. 1288-1292
-
-
Hollak, C.E.1
Van Weely, S.2
Van Oers, M.H.3
Aerts, J.M.4
-
136
-
-
84911998784
-
Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy
-
Van Dussen, L.; Hendriks, E.J.; Groener, J.E.; Boot, R.G.; Hollak, C.E.; Aerts, J.M. Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy. J. Inher. Metab. Dis. 2014, 37, 991–1001.
-
(2014)
J. Inher. Metab. Dis
, vol.37
, pp. 991-1001
-
-
Van Dussen, L.1
Hendriks, E.J.2
Groener, J.E.3
Boot, R.G.4
Hollak, C.E.5
Aerts, J.M.6
-
137
-
-
70349246708
-
Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates
-
Bussink, A.P.; Verhoek, M.; Vreede, J.; Ghauharali-van der Vlugt, K.; Donker-Koopman, W.E.; Sprenger, R.R.; Hollak, C.E.; Aerts, J.M.; Boot, R.G. Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates. FEBS J. 2009, 276, 5678–5688.
-
(2009)
FEBS J
, vol.276
, pp. 5678-5688
-
-
Bussink, A.P.1
Verhoek, M.2
Vreede, J.3
Ghauharali-Van Der Vlugt, K.4
Donker-Koopman, W.E.5
Sprenger, R.R.6
Hollak, C.E.7
Aerts, J.M.8
Boot, R.G.9
-
138
-
-
84876443196
-
Human chitotriosidase: A sensitive biomarker of sarcoidosis
-
Bargagli, E.; Bennett, D.; Maggiorelli, C.; Di Sipio, P.; Margollicci, M.; Bianchi, N.; Rottoli, P. Human chitotriosidase: A sensitive biomarker of sarcoidosis. J. Clin. Immunol. 2013, 33, 264–270.
-
(2013)
J. Clin. Immunol
, vol.33
, pp. 264-270
-
-
Bargagli, E.1
Bennett, D.2
Maggiorelli, C.3
Di Sipio, P.4
Margollicci, M.5
Bianchi, N.6
Rottoli, P.7
-
139
-
-
17044455396
-
Transglycosidase activity of chitotriosidase: Improved enzymatic assay for the human macrophage chitinase
-
Aguilera, B.; Ghauharali van der Vlugt, K.; Helmond, M.T.; Out, J.M.; Donker-Koopman, W.E.; Groener, J.E.; Boot, R.G.; Renkema, G.H.; van der Marel, G.A.; van Boom, J.H.; et al. Transglycosidase activity of chitotriosidase: Improved enzymatic assay for the human macrophage chitinase. J. Biol. Chem. 2003, 278, 40911–40916.
-
(2003)
J. Biol. Chem
, vol.278
, pp. 40911-40916
-
-
Aguilera, B.1
Ghauharali Van Der Vlugt, K.2
Helmond, M.T.3
Out, J.M.4
Donker-Koopman, W.E.5
Groener, J.E.6
Boot, R.G.7
Renkema, G.H.8
Van Der Marel, G.A.9
Van Boom, J.H.10
-
140
-
-
0037265240
-
Alternative activation of macrophages
-
Gordon, S. Alternative activation of macrophages. Nat. Rev. Immunol. 2003, 3, 23–35.
-
(2003)
Nat. Rev. Immunol
, vol.3
, pp. 23-35
-
-
Gordon, S.1
-
141
-
-
84885458490
-
Identification of human CCR8 as a CCL18 receptor
-
Islam, S.A.; Ling, M.F.; Leung, J.; Shreffler, W.G.; Luster, A.D. Identification of human CCR8 as a CCL18 receptor. J. Exp. Med. 2013, 210, 1889–1898.
-
(2013)
J. Exp. Med
, vol.210
, pp. 1889-1898
-
-
Islam, S.A.1
Ling, M.F.2
Leung, J.3
Shreffler, W.G.4
Luster, A.D.5
-
142
-
-
84897058780
-
Biomarkers in connective tissue disease-associated interstitial lung disease
-
Bonella, F.; Costabel, U. Biomarkers in connective tissue disease-associated interstitial lung disease. Semin. Respir. Crit. Care Med. 2014, 35, 181–200.
-
(2014)
Semin. Respir. Crit. Care Med
, vol.35
, pp. 181-200
-
-
Bonella, F.1
Costabel, U.2
-
143
-
-
84879514526
-
Role of CCL18 in asthma and lung immunity
-
Tsicopoulos, A.; Chang, Y.; Ait Yahia, S.; de Nadai, P.; Chenivesse, C. Role of CCL18 in asthma and lung immunity. Clin. Exp. Allergy J. Br. Soc. Allergy Clin. Immunol. 2013, 43, 716–722.
-
(2013)
Clin. Exp. Allergy J. Br. Soc. Allergy Clin. Immunol
, vol.43
, pp. 716-722
-
-
Tsicopoulos, A.1
Chang, Y.2
Ait Yahia, S.3
De Nadai, P.4
Chenivesse, C.5
-
144
-
-
9144222696
-
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: A novel surrogate marker for assessing therapeutic intervention
-
Boot, R.G.; Verhoek, M.; de Fost, M.; Hollak, C.E.; Maas, M.; Bleijlevens, B.; van Breemen, M.J.; van Meurs, M.; Boven, L.A.; Laman, J.D.; et al. 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
Van Breemen, M.J.7
Van Meurs, M.8
Boven, L.A.9
Laman, J.D.10
-
145
-
-
24644469894
-
Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease
-
Deegan, P.B.; Moran, M.T.; McFarlane, I.; Schofield, J.P.; Boot, R.G.; Aerts, J.M.; Cox, T.M. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol. Dis. 2005, 35, 259–267.
-
(2005)
Blood Cells Mol. Dis
, vol.35
, pp. 259-267
-
-
Deegan, P.B.1
Moran, M.T.2
McFarlane, I.3
Schofield, J.P.4
Boot, R.G.5
Aerts, J.M.6
Cox, T.M.7
-
146
-
-
84938686546
-
Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool
-
Fuller, M.; Szer, J.; Stark, S.; Fletcher, J.M. Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool. Clin. Chim. Acta Int. J. Clin. Chem. 2015, 450, 6–10.
-
(2015)
Clin. Chim. Acta Int. J. Clin. Chem
, vol.450
, pp. 6-10
-
-
Fuller, M.1
Szer, J.2
Stark, S.3
Fletcher, J.M.4
-
147
-
-
84964292886
-
Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard
-
Mirzaian, M.; Wisse, P.; Ferraz, M.J.; Gold, H.; Donker-Koopman, W.E.; Verhoek, M.; Overkleeft, H.S.; Boot, R.G.; Kramer, G.; Dekker, N.; et al. Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard. Blood Cells Mol. Dis. 2015, 54, 307–314.
-
(2015)
Blood Cells Mol. Dis
, vol.54
, pp. 307-314
-
-
Mirzaian, M.1
Wisse, P.2
Ferraz, M.J.3
Gold, H.4
Donker-Koopman, W.E.5
Verhoek, M.6
Overkleeft, H.S.7
Boot, R.G.8
Kramer, G.9
Dekker, N.10
-
148
-
-
84991833314
-
Glucosylsphingosine is a key biomarker of Gaucher disease
-
Murugesan, V.; Chuang, W.L.; Liu, J.; Lischuk, A.; Kacena, K.; Lin, H.; Pastores, G.M.; Yang, R.; Keutzer, J.; Zhang, K.; et al. Glucosylsphingosine is a key biomarker of Gaucher disease. Am. J. Hematol. 2016, 91, 1082–1089.
-
(2016)
Am. J. Hematol
, vol.91
, pp. 1082-1089
-
-
Murugesan, V.1
Chuang, W.L.2
Liu, J.3
Lischuk, A.4
Kacena, K.5
Lin, H.6
Pastores, G.M.7
Yang, R.8
Keutzer, J.9
Zhang, K.10
-
149
-
-
84861336517
-
Ferritinemia during type 1 Gaucher disease: Mechanisms and progression under treatment
-
Mekinian, A.; Stirnemann, J.; Belmatoug, N.; Heraoui, D.; Fantin, B.; Fain, O.; Charpentier, A.; Rose, C. Ferritinemia during type 1 Gaucher disease: Mechanisms and progression under treatment. Blood Cells Mol. Dis. 2012, 49, 53–57.
-
(2012)
Blood Cells Mol. Dis
, vol.49
, pp. 53-57
-
-
Mekinian, A.1
Stirnemann, J.2
Belmatoug, N.3
Heraoui, D.4
Fantin, B.5
Fain, O.6
Charpentier, A.7
Rose, C.8
-
150
-
-
77954910427
-
Hyperferritinemia and iron overload in type 1 Gaucher disease
-
Stein, P.; Yu, H.; Jain, D.; Mistry, P.K. 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
-
151
-
-
79959803398
-
Biomarkers in the diagnosis of lysosomal storage disorders: Proteins, lipids, and inhibodies
-
Aerts, J.M.; Kallemeijn, W.W.; Wegdam, W.; Joao Ferraz, M.; van Breemen, M.J.; Dekker, N.; Kramer, G.; Poorthuis, B.J.; Groener, J.E.; Cox-Brinkman, J.; et al. Biomarkers in the diagnosis of lysosomal storage disorders: Proteins, lipids, and inhibodies. J. Inher. Metab. Dis. 2011, 34, 605–619.
-
(2011)
J. Inher. Metab. Dis
, vol.34
, pp. 605-619
-
-
Aerts, J.M.1
Kallemeijn, W.W.2
Wegdam, W.3
Joao Ferraz, M.4
Van Breemen, M.J.5
Dekker, N.6
Kramer, G.7
Poorthuis, B.J.8
Groener, J.E.9
Cox-Brinkman, J.10
-
152
-
-
34548175657
-
Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease
-
Hughes, D.; Cappellini, M.D.; Berger, M.; Van Droogenbroeck, J.; de Fost, M.; Janic, D.; Marinakis, T.; Rosenbaum, H.; Villarubia, J.; Zhukovskaya, E.; 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
Van Droogenbroeck, J.4
De Fost, M.5
Janic, D.6
Marinakis, T.7
Rosenbaum, H.8
Villarubia, J.9
Zhukovskaya, E.10
-
153
-
-
80054834248
-
Development of a panel of highly sensitive, equivalent assays for detection of antibody responses to velaglucerase alfa or imiglucerase enzyme replacement therapy in patients with Gaucher disease
-
Sellos-Moura, M.; Barzegar, S.; Pan, L.; Shi, P.; Oommen, S.; Durant, J.; Ruiz, J.A. Development of a panel of highly sensitive, equivalent assays for detection of antibody responses to velaglucerase alfa or imiglucerase enzyme replacement therapy in patients with Gaucher disease. J. Immunol. Methods 2011, 373, 45–53.
-
(2011)
J. Immunol. Methods
, vol.373
, pp. 45-53
-
-
Sellos-Moura, M.1
Barzegar, S.2
Pan, L.3
Shi, P.4
Oommen, S.5
Durant, J.6
Ruiz, J.A.7
-
154
-
-
67349187413
-
Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease
-
De Fost, M.; Langeveld, M.; Franssen, R.; Hutten, B.A.; Groener, J.E.; de Groot, E.; Mannens, M.M.; Bikker, H.; Aerts, J.M.; Kastelein, J.J.; et al. Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease. Atherosclerosis 2009, 204, 267–272.
-
(2009)
Atherosclerosis
, vol.204
, pp. 267-272
-
-
De Fost, M.1
Langeveld, M.2
Franssen, R.3
Hutten, B.A.4
Groener, J.E.5
De Groot, E.6
Mannens, M.M.7
Bikker, H.8
Aerts, J.M.9
Kastelein, J.J.10
-
155
-
-
82455184696
-
Organ volume by computed tomography correlates with longitudinal axis on ultrasound in patients with Gaucher disease
-
Elstein, D.; Tiomkin, M.; Hadas-Halpern, I.; Zimran, A. Organ volume by computed tomography correlates with longitudinal axis on ultrasound in patients with Gaucher disease. Ultrasound Q. 2011, 27, 225–228.
-
(2011)
Ultrasound Q
, vol.27
, pp. 225-228
-
-
Elstein, D.1
Tiomkin, M.2
Hadas-Halpern, I.3
Zimran, A.4
-
156
-
-
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.; Ciana, G.; Denes, C.; Mariani, G.; Maas, M. 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
Ciana, G.4
Denes, C.5
Mariani, G.6
Maas, M.7
-
157
-
-
0142178308
-
Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging—Initial experience
-
F.; den Heeten, G.J. Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging—Initial experience. Radiology 2003, 229, 554–561.
-
(2003)
Radiology
, vol.229
, pp. 554-561
-
-
Maas, M.1
Van Kuijk, C.2
Stoker, J.3
Hollak, C.E.4
Akkerman, E.M.5
Aerts, J.F.6
Den Heeten, G.J.7
-
158
-
-
84941315294
-
Bone marrow involvement in Gaucher disease at MRI: What long-term evolution can we expect under enzyme replacement therapy?
-
Fedida, B.; Touraine, S.; Stirnemann, J.; Belmatoug, N.; Laredo, J.D.; Petrover, D. Bone marrow involvement in Gaucher disease at MRI: What long-term evolution can we expect under enzyme replacement therapy? Eur. Radiol. 2015, 25, 2969–2975.
-
(2015)
Eur. Radiol
, vol.25
, pp. 2969-2975
-
-
Fedida, B.1
Touraine, S.2
Stirnemann, J.3
Belmatoug, N.4
Laredo, J.D.5
Petrover, D.6
-
159
-
-
0035544709
-
Dixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher disease
-
Hollak, C.; Maas, M.; Akkerman, E.; den Heeten, A.; Aerts, H. Dixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher disease. Blood Cells Mol. Dis. 2001, 27, 1005–1012.
-
(2001)
Blood Cells Mol. Dis
, vol.27
, pp. 1005-1012
-
-
Hollak, C.1
Maas, M.2
Akkerman, E.3
Den Heeten, A.4
Aerts, H.5
-
160
-
-
0036075371
-
Imaging and quantifying skeletal involvement in Gaucher disease
-
Maas, M.; Poll, L.W.; Terk, M.R. Imaging and quantifying skeletal involvement in Gaucher disease. Br. J. Radiol. 2002, 75 (Suppl. S1), A13–A24.
-
(2002)
Br. J. Radiol
, vol.75
, pp. A13-A24
-
-
Maas, M.1
Poll, L.W.2
Terk, M.R.3
-
161
-
-
52149109283
-
Bone- and bone marrow scintigraphy in Gaucher disease type 1
-
Mikosch, P.; Zitter, F.; Gallowitsch, H.J.; Wurtz, F.; Lind, P.; Mehta, A.B.; Hughes, D.A. Bone- and bone marrow scintigraphy in Gaucher disease type 1. Nukl. Nucl. Med. 2008, 47, N39–N43.
-
(2008)
Nukl. Nucl. Med
, vol.47
, pp. N39-N43
-
-
Mikosch, P.1
Zitter, F.2
Gallowitsch, H.J.3
Wurtz, F.4
Lind, P.5
Mehta, A.B.6
Hughes, D.A.7
-
162
-
-
82255179519
-
Therapeutic approaches to bone pathology in Gaucher disease: Past, present and future
-
Goker-Alpan, O. Therapeutic approaches to bone pathology in Gaucher disease: Past, present and future. Mol. Genet. Metab. 2011, 104, 438–447.
-
(2011)
Mol. Genet. Metab
, vol.104
, pp. 438-447
-
-
Goker-Alpan, O.1
-
163
-
-
20944439209
-
Individualization of long-term enzyme replacement therapy for Gaucher disease
-
Andersson, H.C.; Charrow, J.; Kaplan, P.; Mistry, P.; Pastores, G.M.; Prakash-Cheng, A.; Rosenbloom, B.E.; Scott, C.R.; Wappner, R.S.; Weinreb, N.J.; et al. 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
Mistry, P.4
Pastores, G.M.5
Prakash-Cheng, A.6
Rosenbloom, B.E.7
Scott, C.R.8
Wappner, R.S.9
Weinreb, N.J.10
-
164
-
-
4744370348
-
Therapeutic goals in the treatment of Gaucher disease
-
Pastores, G.M.; Weinreb, N.J.; Aerts, H.; Andria, G.; Cox, T.M.; Giralt, M.; Grabowski, G.A.; Mistry, P.K.; Tylki-Szymanska, A. Therapeutic goals in the treatment of Gaucher disease. Sem. Hematol. 2004, 41, 4–14.
-
(2004)
Sem. Hematol
, vol.41
, pp. 4-14
-
-
Pastores, G.M.1
Weinreb, N.J.2
Aerts, H.3
Andria, G.4
Cox, T.M.5
Giralt, M.6
Grabowski, G.A.7
Mistry, P.K.8
Tylki-Szymanska, A.9
-
165
-
-
0028875475
-
The clinical course of treated and untreated Gaucher disease. A study of 45 patients
-
Beutler, E.; Demina, A.; Laubscher, K.; Garver, P.; Gelbart, T.; Balicki, D.; Vaughan, L. The clinical course of treated and untreated Gaucher disease. A study of 45 patients. Blood Cells Mol. Dis. 1995, 21, 86–108.
-
(1995)
Blood Cells Mol. Dis
, vol.21
, pp. 86-108
-
-
Beutler, E.1
Demina, A.2
Laubscher, K.3
Garver, P.4
Gelbart, T.5
Balicki, D.6
Vaughan, L.7
-
166
-
-
0027138151
-
Low-dose high-frequency enzyme replacement therapy for very young children with severe Gaucher disease
-
Zimran, A.; Hadas-Halpern, I.; Zevin, S.; Levy-Lahad, E.; Abrahamov, A. Low-dose high-frequency enzyme replacement therapy for very young children with severe Gaucher disease. Br. J. Haematol. 1993, 85, 783–786.
-
(1993)
Br. J. Haematol
, vol.85
, pp. 783-786
-
-
Zimran, A.1
Hadas-Halpern, I.2
Zevin, S.3
Levy-Lahad, E.4
Abrahamov, A.5
-
167
-
-
0026474627
-
A less costly regimen of alglucerase to treat Gaucher’s disease
-
Figueroa, M.L.; Rosenbloom, B.E.; Kay, A.C.; Garver, P.; Thurston, D.W.; Koziol, J.A.; Gelbart, T.; Beutler, E. A less costly regimen of alglucerase to treat Gaucher’s disease. N. Engl. J. Med. 1992, 327, 1632–1636.
-
(1992)
N. Engl. J. Med
, vol.327
, pp. 1632-1636
-
-
Figueroa, M.L.1
Rosenbloom, B.E.2
Kay, A.C.3
Garver, P.4
Thurston, D.W.5
Koziol, J.A.6
Gelbart, T.7
Beutler, E.8
-
168
-
-
34548462176
-
The outcome of clinical parameters in adults with severe Type I Gaucher disease using very low dose enzyme replacement therapy
-
Wilson, C.; Spearing, R.; Teague, L.; Robertson, P.; Blacklock, H. The outcome of clinical parameters in adults with severe Type I Gaucher disease using very low dose enzyme replacement therapy. Mol. Genet. Metab. 2007, 92, 131–136.
-
(2007)
Mol. Genet. Metab
, vol.92
, pp. 131-136
-
-
Wilson, C.1
Spearing, R.2
Teague, L.3
Robertson, P.4
Blacklock, H.5
-
169
-
-
0032170613
-
Low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher disease
-
Cohen, I.J.; Katz, K.; Kornreich, L.; Horev, G.; Frish, A.; Zaizov, R. Low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher disease. Blood Cells Mol. Dis. 1998, 24, 296–302.
-
(1998)
Blood Cells Mol. Dis
, vol.24
, pp. 296-302
-
-
Cohen, I.J.1
Katz, K.2
Kornreich, L.3
Horev, G.4
Frish, A.5
Zaizov, R.6
-
170
-
-
62149099925
-
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
-
E.; Zhang, L.; Yee, J.; Mistry, P.K.; Zimran, A.; Charrow, J.; vom Dahl, S. 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.A.1
Kacena, K.2
Cole, J.A.3
Hollak, C.E.4
Zhang, L.5
Yee, J.6
Mistry, P.K.7
Zimran, A.8
Charrow, J.9
Vom Dahl, S.10
-
171
-
-
84932084034
-
Long-term treatment outcomes in Gaucher disease
-
Charrow, J.; Scott, C.R. Long-term treatment outcomes in Gaucher disease. Am. J. Hematol. 2015, 90 (Suppl. S1), S19–S24.
-
(2015)
Am. J. Hematol
, vol.90
, pp. S19-S24
-
-
Charrow, J.1
Scott, C.R.2
-
172
-
-
79952602089
-
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy
-
Stein, P.; Malhotra, A.; Haims, A.; Pastores, G.M.; Mistry, P.K. 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, 33, 769–774.
-
(2010)
J. Inherit. Metab. Dis
, vol.33
, pp. 769-774
-
-
Stein, P.1
Malhotra, A.2
Haims, A.3
Pastores, G.M.4
Mistry, P.K.5
-
173
-
-
0031877439
-
The health-related quality of life of adults with Gaucher’s disease receiving enzyme replacement therapy: Results from a retrospective study. Qual. Life Res. Int. J. Qual. Life Asp. Treat
-
Damiano, A.M.; Pastores, G.M.; Ware, J.E., Jr. The health-related quality of life of adults with Gaucher’s disease receiving enzyme replacement therapy: Results from a retrospective study. Qual. Life Res. Int. J. Qual. Life Asp. Treat. Care Rehabil. 1998, 7, 373–386.
-
(1998)
Care Rehabil
, vol.7
, pp. 373-386
-
-
Damiano, A.M.1
Pastores, G.M.2
Ware, J.E.3
-
174
-
-
0032811874
-
Quality of life assessment in adults with type 1 Gaucher disease. Qual. Life Res. Int. J. Qual. Life Asp. Treatm
-
Masek, B.J.; Sims, K.B.; Bove, C.M.; Korson, M.S.; Short, P.; Norman, D.K. Quality of life assessment in adults with type 1 Gaucher disease. Qual. Life Res. Int. J. Qual. Life Asp. Treatm. Care Rehabil. 1999, 8, 263–268.
-
(1999)
Care Rehabil
, vol.8
, pp. 263-268
-
-
Masek, B.J.1
Sims, K.B.2
Bove, C.M.3
Korson, M.S.4
Short, P.5
Norman, D.K.6
-
175
-
-
34249662242
-
Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease
-
Weinreb, N.; Barranger, J.; Packman, S.; Prakash-Cheng, A.; Rosenbloom, B.; Sims, K.; Angell, J.; Skrinar, A.; Pastores, G.M. 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
Prakash-Cheng, A.4
Rosenbloom, B.5
Sims, K.6
Angell, J.7
Skrinar, A.8
Pastores, G.M.9
-
176
-
-
33845933154
-
Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease
-
Wenstrup, R.J.; Kacena, K.A.; Kaplan, P.; Pastores, G.M.; Prakash-Cheng, A.; Zimran, A.; Hangartner, T.N. 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
Pastores, G.M.4
Prakash-Cheng, A.5
Zimran, A.6
Hangartner, T.N.7
-
177
-
-
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, G.A.; Weinreb, N.J. 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
-
178
-
-
78650827299
-
Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults
-
Mistry, P.K.; Weinreb, N.J.; Kaplan, P.; Cole, J.A.; Gwosdow, A.R.; Hangartner, T. 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
Cole, J.A.4
Gwosdow, A.R.5
Hangartner, T.6
-
179
-
-
70350451759
-
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: Effect on incidence of avascular necrosis
-
Mistry, P.K.; Deegan, P.; Vellodi, A.; Cole, J.A.; Yeh, M.; Weinreb, N.J. 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
Cole, J.A.4
Yeh, M.5
Weinreb, N.J.6
-
180
-
-
84921652104
-
The clinical management of Type 2 Gaucher disease
-
Weiss, K.; Gonzalez, A.N.; Lopez, G.; Pedoeim, L.; Groden, C.; Sidransky, E. The clinical management of Type 2 Gaucher disease. Mol. Genet. Metab. 2015, 114, 110–122.
-
(2015)
Mol. Genet. Metab
, vol.114
, pp. 110-122
-
-
Weiss, K.1
Gonzalez, A.N.2
Lopez, G.3
Pedoeim, L.4
Groden, C.5
Sidransky, E.6
-
181
-
-
84903593370
-
Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease
-
Elstein, D.; Hughes, D.; Goker-Alpan, O.; Stivel, M.; Baris, H.N.; Cohen, I.J.; Granovsky-Grisaru, S.; Samueloff, A.; Mehta, A.; Zimran, A. Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease. J. Obstet. Gynaecol. Res. 2014, 40, 968–975.
-
(2014)
J. Obstet. Gynaecol. Res
, vol.40
, pp. 968-975
-
-
Elstein, D.1
Hughes, D.2
Goker-Alpan, O.3
Stivel, M.4
Baris, H.N.5
Cohen, I.J.6
Granovsky-Grisaru, S.7
Samueloff, A.8
Mehta, A.9
Zimran, A.10
-
182
-
-
33745112205
-
Substrate reduction therapy of glycosphingolipid storage disorders
-
Aerts, J.M.; Hollak, C.E.; Boot, R.G.; Groener, J.E.; Maas, M. Substrate reduction therapy of glycosphingolipid storage disorders. J. Inher. Metab. Dis. 2006, 29, 449–456.
-
(2006)
J. Inher. Metab. Dis
, vol.29
, pp. 449-456
-
-
Aerts, J.M.1
Hollak, C.E.2
Boot, R.G.3
Groener, J.E.4
Maas, M.5
-
183
-
-
82955195937
-
Gastrointestinal disturbances and their management in miglustat-treated patients
-
Belmatoug, N.; Burlina, A.; Giraldo, P.; Hendriksz, C.J.; Kuter, D.J.; Mengel, E.; Pastores, G.M. Gastrointestinal disturbances and their management in miglustat-treated patients. J. Inherit. Metab. Dis. 2011, 34, 991–1001.
-
(2011)
J. Inherit. Metab. Dis
, vol.34
, pp. 991-1001
-
-
Belmatoug, N.1
Burlina, A.2
Giraldo, P.3
Hendriksz, C.J.4
Kuter, D.J.5
Mengel, E.6
Pastores, G.M.7
-
184
-
-
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, E.A.; Banikazemi, M.; Dragosky, M.; Iastrebner, M.; Rosenbaum, H.; Phillips, M.; Pastores, G.M.; Rosenthal, D.I.; 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
Banikazemi, M.4
Dragosky, M.5
Iastrebner, M.6
Rosenbaum, H.7
Phillips, M.8
Pastores, G.M.9
Rosenthal, D.I.10
-
185
-
-
84908086749
-
Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment
-
Lukina, E.; Watman, N.; Dragosky, M.; Pastores, G.M.; Arreguin, E.A.; Rosenbaum, H.; Zimran, A.; Angell, J.; Ross, L.; Puga, A.C.; et al. Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment. Blood Cells Mol. Dis. 2014, 53, 274–276.
-
(2014)
Blood Cells Mol. Dis
, vol.53
, pp. 274-276
-
-
Lukina, E.1
Watman, N.2
Dragosky, M.3
Pastores, G.M.4
Arreguin, E.A.5
Rosenbaum, H.6
Zimran, A.7
Angell, J.8
Ross, L.9
Puga, A.C.10
-
186
-
-
84930932122
-
Eliglustat compared with imiglucerase in patients with Gaucher’s disease type 1 stabilised on enzyme replacement therapy: A phase 3, randomised, open-label, non-inferiority trial
-
Cox, T.M.; Drelichman, G.; Cravo, R.; Balwani, M.; Burrow, T.A.; Martins, A.M.; Lukina, E.; Rosenbloom, B.; Ross, L.; Angell, J.; et al. Eliglustat compared with imiglucerase in patients with Gaucher’s disease type 1 stabilised on enzyme replacement therapy: A phase 3, randomised, open-label, non-inferiority trial. Lancet 2015, 385, 2355–2362.
-
(2015)
Lancet
, vol.385
, pp. 2355-2362
-
-
Cox, T.M.1
Drelichman, G.2
Cravo, R.3
Balwani, M.4
Burrow, T.A.5
Martins, A.M.6
Lukina, E.7
Rosenbloom, B.8
Ross, L.9
Angell, J.10
-
187
-
-
84923186347
-
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: The ENGAGE randomized clinical trial
-
Mistry, P.K.; Lukina, E.; Ben Turkia, H.; Amato, D.; Baris, H.; Dasouki, M.; Ghosn, M.; Mehta, A.; Packman, S.; Pastores, G.; et al. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: The ENGAGE randomized clinical trial. JAMA 2015, 313, 695–706.
-
(2015)
JAMA
, vol.313
, pp. 695-706
-
-
Mistry, P.K.1
Lukina, E.2
Ben Turkia, H.3
Amato, D.4
Baris, H.5
Dasouki, M.6
Ghosn, M.7
Mehta, A.8
Packman, S.9
Pastores, G.10
-
188
-
-
84906934849
-
Skeletal improvement in patients with Gaucher disease type 1: A phase 2 trial of oral eliglustat
-
Kamath, R.S.; Lukina, E.; Watman, N.; Dragosky, M.; Pastores, G.M.; Arreguin, E.A.; Rosenbaum, H.; Zimran, A.; Aguzzi, R.; Puga, A.C.; et al. Skeletal improvement in patients with Gaucher disease type 1: A phase 2 trial of oral eliglustat. Skelet. Radiol. 2014, 43, 1353–1360.
-
(2014)
Skelet. Radiol
, vol.43
, pp. 1353-1360
-
-
Kamath, R.S.1
Lukina, E.2
Watman, N.3
Dragosky, M.4
Pastores, G.M.5
Arreguin, E.A.6
Rosenbaum, H.7
Zimran, A.8
Aguzzi, R.9
Puga, A.C.10
-
189
-
-
84994285410
-
Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe
-
Belmatoug, N.; Di Rocco, M.; Fraga, C.; Giraldo, P.; Hughes, D.; Lukina, E.; Maison-Blanche, P.; Merkel, M.; Niederau, C.; Plckinger, U.; et al. Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe. Eur. J. Intern. Med. 2017, 37, 25–32.
-
(2017)
Eur. J. Intern. Med
, vol.37
, pp. 25-32
-
-
Belmatoug, N.1
Di Rocco, M.2
Fraga, C.3
Giraldo, P.4
Hughes, D.5
Lukina, E.6
Maison-Blanche, P.7
Merkel, M.8
Niederau, C.9
Plckinger, U.10
-
190
-
-
0028921786
-
Ten years’ experience of bone marrow transplantation for Gaucher disease
-
[PubMed]
-
Ringden, O.; Groth, C.G.; Erikson, A.; Granqvist, S.; Mansson, J.E.; Sparrelid, E. Ten years’ experience of bone marrow transplantation for Gaucher disease. Transplantation 1995, 59, 864–870. [PubMed]
-
(1995)
Transplantation
, vol.59
, pp. 864-870
-
-
Ringden, O.1
Groth, C.G.2
Erikson, A.3
Granqvist, S.4
Mansson, J.E.5
Sparrelid, E.6
-
191
-
-
0032553681
-
Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: In vivo detection of transduced cells without myeloablation
-
Dunbar, C.E.; Kohn, D.B.; Schiffmann, R.; Barton, N.W.; Nolta, J.A.; Esplin, J.A.; Pensiero, M.; Long, Z.; Lockey, C.; Emmons, R.V.; et al. Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: In vivo detection of transduced cells without myeloablation. Hum. Gene Ther. 1998, 9, 2629–2640.
-
(1998)
Hum. Gene Ther
, vol.9
, pp. 2629-2640
-
-
Dunbar, C.E.1
Kohn, D.B.2
Schiffmann, R.3
Barton, N.W.4
Nolta, J.A.5
Esplin, J.A.6
Pensiero, M.7
Long, Z.8
Lockey, C.9
Emmons, R.V.10
-
192
-
-
84929047508
-
Lentiviral gene therapy using cellular promoters cures type 1 Gaucher disease in mice
-
Dahl, M.; Doyle, A.; Olsson, K.; Mansson, J.E.; Marques, A.R.; Mirzaian, M.; Aerts, J.M.; Ehinger, M.; Rothe, M.; Modlich, U.; et al. Lentiviral gene therapy using cellular promoters cures type 1 Gaucher disease in mice. Mol. Ther. J. Am. Soc. Gene Ther. 2015, 23, 835–844.
-
(2015)
Mol. Ther. J. Am. Soc. Gene Ther
, vol.23
, pp. 835-844
-
-
Dahl, M.1
Doyle, A.2
Olsson, K.3
Mansson, J.E.4
Marques, A.R.5
Mirzaian, M.6
Aerts, J.M.7
Ehinger, M.8
Rothe, M.9
Modlich, U.10
-
193
-
-
84983339547
-
Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models
-
Sanchez-Martinez, A.; Beavan, M.; Gegg, M.E.; Chau, K.Y.; Whitworth, A.J.; Schapira, A.H. Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models. Sci. Rep. 2016, 6, 31380.
-
(2016)
Sci. Rep
, vol.6
-
-
Sanchez-Martinez, A.1
Beavan, M.2
Gegg, M.E.3
Chau, K.Y.4
Whitworth, A.J.5
Schapira, A.H.6
-
194
-
-
77449098166
-
Treating lysosomal storage diseases with pharmacological chaperones: From concept to clinics
-
Parenti, G. Treating lysosomal storage diseases with pharmacological chaperones: From concept to clinics. EMBO Mol. Med. 2009, 1, 268–279.
-
(2009)
EMBO Mol. Med
, vol.1
, pp. 268-279
-
-
Parenti, G.1
-
195
-
-
69949119548
-
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease
-
Maegawa, G.H.; Tropak, M.B.; Buttner, J.D.; Rigat, B.A.; Fuller, M.; Pandit, D.; Tang, L.; Kornhaber, G.J.; Hamuro, Y.; Clarke, J.T.; 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
Rigat, B.A.4
Fuller, M.5
Pandit, D.6
Tang, L.7
Kornhaber, G.J.8
Hamuro, Y.9
Clarke, J.T.10
-
196
-
-
84899819100
-
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells
-
McNeill, A.; Magalhaes, J.; Shen, C.; Chau, K.Y.; Hughes, D.; Mehta, A.; Foltynie, T.; Cooper, J.M.; Abramov, A.Y.; Gegg, M.; et al. Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain J. Neurol. 2014, 137, 1481–1495.
-
(2014)
Brain J. Neurol
, vol.137
, pp. 1481-1495
-
-
McNeill, A.1
Magalhaes, J.2
Shen, C.3
Chau, K.Y.4
Hughes, D.5
Mehta, A.6
Foltynie, T.7
Cooper, J.M.8
Abramov, A.Y.9
Gegg, M.10
-
197
-
-
84896702531
-
Long-term risks after splenectomy among 8,149 cancer-free American veterans: A cohort study with up to 27 years follow-up
-
Kristinsson, S.Y.; Gridley, G.; Hoover, R.N.; Check, D.; Landgren, O. Long-term risks after splenectomy among 8,149 cancer-free American veterans: A cohort study with up to 27 years follow-up. Haematologica 2014, 99, 392–398.
-
(2014)
Haematologica
, vol.99
, pp. 392-398
-
-
Kristinsson, S.Y.1
Gridley, G.2
Hoover, R.N.3
Check, D.4
Landgren, O.5
-
198
-
-
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.; Cappellini, M.D.; vom Dahl, S.; Goldblatt, J.; Grabowski, G.A.; Hollak, C.E.; Hwu, P.; Maas, M.; 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
Cappellini, M.D.4
Vom Dahl, S.5
Goldblatt, J.6
Grabowski, G.A.7
Hollak, C.E.8
Hwu, P.9
Maas, M.10
-
199
-
-
84930372033
-
Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones
-
H.N.; Weisz Hubshman, M.; Bar-Sever, Z.; Kornreich, L.; Shkalim Zemer, V.; Cohen, I.J. Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones. Blood Cells Mol. Dis. 2015, 60, 65–72.
-
(2015)
Blood Cells Mol. Dis
, vol.60
, pp. 65-72
-
-
Baris, H.N.1
Weisz Hubshman, M.2
Bar-Sever, Z.3
Kornreich, L.4
Shkalim Zemer, V.5
Cohen, I.J.6
-
200
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency— Macrophage-targeted glucocerebrosidase for Gaucher’s disease
-
Barton, N.W.; Brady, R.O.; Dambrosia, J.M.; Di Bisceglie, A.M.; Doppelt, S.H.; Hill, S.C.; Mankin, H.J.; Murray, G.J.; Parker, R.I.; Argoff, C.E.; 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
Di Bisceglie, A.M.4
Doppelt, S.H.5
Hill, S.C.6
Mankin, H.J.7
Murray, G.J.8
Parker, R.I.9
Argoff, C.E.10
-
201
-
-
84903361488
-
Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model
-
Vigan, M.; Stirnemann, J.; Caillaud, C.; Froissart, R.; Boutten, A.; Fantin, B.; Belmatoug, N.; Mentre, F. Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model. Orphanet J. Rare Dis. 2014, 9, 95.
-
(2014)
Orphanet J. Rare Dis
, vol.9
, pp. 95
-
-
Vigan, M.1
Stirnemann, J.2
Caillaud, C.3
Froissart, R.4
Boutten, A.5
Fantin, B.6
Belmatoug, N.7
Mentre, F.8
-
202
-
-
84877724206
-
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment
-
Weinreb, N.J.; Goldblatt, J.; Villalobos, J.; Charrow, J.; Cole, J.A.; Kerstenetzky, M.; vom Dahl, S.; Hollak, C. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J. Inherit. Metab. Dis. 2013, 36, 543–553.
-
(2013)
J. Inherit. Metab. Dis
, vol.36
, pp. 543-553
-
-
Weinreb, N.J.1
Goldblatt, J.2
Villalobos, J.3
Charrow, J.4
Cole, J.A.5
Kerstenetzky, M.6
Vom Dahl, S.7
Hollak, C.8
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