-
1
-
-
0000216808
-
Gaucher disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York, NY: McGraw-Hill
-
Beutler E, Grabowski G. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Diseases. New York, NY: McGraw-Hill. 2001; 3635-3668.
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 3635-3668
-
-
Beutler, E.1
Grabowski, G.2
-
2
-
-
0025869216
-
Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease
-
Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med. 1991; 324(21):1464-1470.
-
(1991)
N Engl J Med
, vol.324
, Issue.21
, pp. 1464-1470
-
-
Barton, N.W.1
Brady, R.O.2
Dambrosia, J.M.3
-
4
-
-
0034728914
-
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox T, Lachmann R, Hollak C, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet. 2000;355(9214): 1481-1485. (Pubitemid 30237353)
-
(2000)
Lancet
, vol.355
, Issue.9214
, pp. 1481-1485
-
-
Cox, T.1
Lachmann, R.2
Hollak, C.3
Aerts, J.4
Van Weely, S.5
Hrebicek, M.6
Platt, F.7
Butters, T.8
Dwek, R.9
Moyses, C.10
Gow, I.11
Elstein, D.12
Zimran, A.13
-
5
-
-
0035020269
-
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy
-
DOI 10.1023/A:1010335505357
-
Platt FM, Jeyakumar M, Andersson U, et al. Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. J Inherit Metab Dis. 2001;24(2):275-290. (Pubitemid 32479421)
-
(2001)
Journal of Inherited Metabolic Disease
, vol.24
, Issue.2
, pp. 275-290
-
-
Platt, F.M.1
Jeyakumar, M.2
Andersson, U.3
Priestman, D.A.4
Dwek, R.A.5
Butters, T.D.6
Cox, T.M.7
Lachmann, R.H.8
Hollak, C.9
Aerts, J.M.F.G.10
Van Weely, S.11
Hrebicek, M.12
Moyses, C.13
Gow, I.14
Elstein, D.15
Zimran, A.16
-
6
-
-
33745722913
-
Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: A 2-center retrospective analysis
-
DOI 10.1182/blood-2005-12-5072
-
de Fost M, Hollak CE, Groener JE, et al. Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis. Blood. 2006;108(3):830-835. (Pubitemid 44154614)
-
(2006)
Blood
, vol.108
, Issue.3
, pp. 830-835
-
-
De Fost, M.1
Hollak, C.E.M.2
Groener, J.E.M.3
Aerts, J.M.F.G.4
Maas, M.5
Poll, L.W.6
Wiersma, M.G.7
Haussinger, D.8
Brett, S.9
Brill, N.10
Vom, D.S.11
-
7
-
-
10744226382
-
The role of the iminosugar N-butyldeoxynojirmycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement
-
DOI 10.1023/A:1025902113005
-
Cox TM, Aerts JM, Andria G, et al. Advisory Council to the European Working Group on Gaucher Disease. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis. 2003;26(6):513-526. (Pubitemid 37321530)
-
(2003)
Journal of Inherited Metabolic Disease
, vol.26
, Issue.6
, pp. 513-526
-
-
Cox, T.M.1
Aerts, J.M.F.G.2
Andria, G.3
Beck, M.4
Belmatoug, N.5
Bembi, B.6
Chertkoff, R.7
Vom, D.S.8
Elstein, D.9
Erikson, A.10
Giralt, M.11
Heitner, R.12
Hollak, C.13
Hrebicek, M.14
Lewis, S.15
Mehta, A.16
Pastores, G.M.17
Rolfs, A.18
Sa, M.M.C.19
Zimran, A.20
more..
-
8
-
-
33745112205
-
Substrate reduction therapy of glycosphingolipid storage disorders
-
DOI 10.1007/s10545-006-0272-5
-
Aerts JM, Hollak CE, Boot RG, Groener JE, Maas M. Substrate reduction therapy of glycosphingolipid storage disorders. J Inherit Metab Dis. 2006;29(2-3):449-456. (Pubitemid 43880650)
-
(2006)
Journal of Inherited Metabolic Disease
, vol.29
, Issue.2-3
, pp. 449-456
-
-
Aerts, J.M.F.G.1
Hollak, C.E.M.2
Boot, R.G.3
Groener, J.E.M.4
Maas, M.5
-
9
-
-
41049104711
-
Biomarkers for lysosomal storage disorders: Identification and application as exemplified by chitotriosidase in Gaucher disease
-
DOI 10.1111/j.1651-2227.2007.00641.x
-
Aerts JM, van Breemen MJ, Bussink AP, et al. Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease. Acta Paediatr Suppl. 2008;97(457):7-14. (Pubitemid 351421284)
-
(2008)
Acta Paediatrica, International Journal of Paediatrics
, vol.97
, Issue.SUPPL. 457
, pp. 7-14
-
-
Aerts, J.M.1
Van Breemen, M.J.2
Bussink, A.P.3
Ghauharali, K.4
Sprenger, R.5
Boot, R.G.6
Groener, J.E.7
Hollak, C.E.8
Maas, M.9
Smit, S.10
Hoefsloot, H.C.11
Smilde, A.K.12
Vissers, J.P.C.13
De Jong, S.14
Speijer, D.15
De Koster, C.G.16
-
10
-
-
0028220472
-
Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease
-
Hollak CE, Van Weely S, Van Oers MH, Aerts JM. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest. 1994;93(3):1288-1292.
-
(1994)
J Clin Invest
, vol.93
, Issue.3
, pp. 1288-1292
-
-
Hollak, C.E.1
Van Weely, S.2
Van Oers, M.H.3
Aerts, J.M.4
-
11
-
-
9144222696
-
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: A novel surrogate marker for assessing therapeutic intervention
-
DOI 10.1182/blood-2003-05-1612
-
Boot RG, Verhoek M, De Fost M, et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood. 2004; 103(1):33-39. (Pubitemid 38029915)
-
(2004)
Blood
, vol.103
, Issue.1
, pp. 33-39
-
-
Boot, R.G.1
Verhoek, M.2
De Fost, M.3
Hollak, C.E.M.4
Maas, M.5
Bleijlevens, B.6
Van Breemen, M.J.7
Van Meurs, M.8
Boven, L.A.9
Laman, J.D.10
Moran, M.T.11
Cox, T.M.12
Aerts, J.M.F.G.13
-
12
-
-
33644592963
-
Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease
-
Erikson A, Forsberg H, Nilsson M, Astrom M, Mansson JE. Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease. Acta Paediatr. 2006;95(3):312-317.
-
(2006)
Acta Paediatr
, vol.95
, Issue.3
, pp. 312-317
-
-
Erikson, A.1
Forsberg, H.2
Nilsson, M.3
Astrom, M.4
Mansson, J.E.5
-
13
-
-
41949140818
-
Plasma lipids are altered in Gaucher disease: Biochemical markers to evaluate therapeutic intervention
-
DOI 10.1016/j.bcmd.2007.10.004, PII S1079979607002264
-
Meikle PJ, Whitfield PD, Rozaklis T, et al. Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic intervention. Blood Cells Mol Dis. 2008;40(3):420-427. (Pubitemid 351508448)
-
(2008)
Blood Cells, Molecules, and Diseases
, vol.40
, Issue.3
, pp. 420-427
-
-
Meikle, P.J.1
Whitfield, P.D.2
Rozaklis, T.3
Blacklock, D.4
Duplock, S.5
Elstein, D.6
Zimran, A.7
Mengel, E.8
Cannell, P.9
Hopwood, J.J.10
Fuller, M.11
-
14
-
-
39049171422
-
Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: Correlations with disease severity and response to therapeutic intervention
-
Groener JE, Poorthuis BJ, Kuiper S, Hollak CE, Aerts JM. Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic intervention. Biochim Biophys Acta. 2008;1781(1-2):72-78.
-
(2008)
Biochim Biophys Acta
, vol.1781
, Issue.1-2
, pp. 72-78
-
-
Groener, J.E.1
Poorthuis, B.J.2
Kuiper, S.3
Hollak, C.E.4
Aerts, J.M.5
-
15
-
-
38649107044
-
Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease
-
Ghauharali-van der Vlugt K, Langeveld M, Poppema A et al. Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease. Clin Chim Acta. 2008;389(1-2):109-113.
-
(2008)
Clin Chim Acta
, vol.389
, Issue.1-2
, pp. 109-113
-
-
Ghauharali-van Der Vlugt, K.1
Langeveld, M.2
Poppema, A.3
-
16
-
-
0015820345
-
Deficiency of glucosylsphingosine: Beta-glucosidase in Gaucher disease
-
Raghavan SS, Mumford RA, Kanfer JN. Deficiency of glucosylsphingosine: beta-glucosidase in Gaucher disease. Biochem Biophys Res Commun. 1973;54(1):256-263.
-
(1973)
Biochem Biophys Res Commun
, vol.54
, Issue.1
, pp. 256-263
-
-
Raghavan, S.S.1
Mumford, R.A.2
Kanfer, J.N.3
-
17
-
-
0020320060
-
Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease
-
DOI 10.1111/j.1471-4159.1982.tb07950.x
-
Nilsson O, Svennerholm L. Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease, J Neurochem. 1982; 39(3):709-718. (Pubitemid 12034962)
-
(1982)
Journal of Neurochemistry
, vol.39
, Issue.3
, pp. 709-718
-
-
Nilsson, O.1
Svennerholm, L.2
-
18
-
-
0036387220
-
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: Correlation with phenotype and genotype
-
Orvisky E, Park JK, LaMarca ME, et al. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype. Mol Genet Metab. 2002; 76(4):262-270.
-
(2002)
Mol Genet Metab
, vol.76
, Issue.4
, pp. 262-270
-
-
Orvisky, E.1
Park, J.K.2
LaMarca, M.E.3
-
19
-
-
0346218248
-
Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: A model system for assessing neuronal damage in Gaucher disease type 2 and 3
-
DOI 10.1016/j.nbd.2003.08.016
-
Schueler UH, Kolter T, Kaneski CR, et al. Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3. Neurobiol Dis. 2003;14(3):595-601. (Pubitemid 37543536)
-
(2003)
Neurobiology of Disease
, vol.14
, Issue.3
, pp. 595-601
-
-
Schueler, U.H.1
Kolter, T.2
Kaneski, C.R.3
Blusztajn, J.K.4
Herkenham, M.5
Sandhoff, K.6
Brady, R.O.7
-
20
-
-
78650614891
-
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
-
Mistry PK, Liu J, Yang M, et al. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci U S A. 2010;107(45):19473-19478.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, Issue.45
, pp. 19473-19478
-
-
Mistry, P.K.1
Liu, J.2
Yang, M.3
-
21
-
-
0242637088
-
Lyso-glycosphingolipids mobilize calcium from brain microsomes via multiple mechanisms
-
DOI 10.1042/BJ20030613
-
Lloyd-Evans E, Pelled D, Riebeling C, Futerman AH. Lyso- glycosphingolipids mobilize calcium from brain microsomes via multiple mechanisms. Biochem J. 2003;375(3):561-565. (Pubitemid 37433504)
-
(2003)
Biochemical Journal
, vol.375
, Issue.3
, pp. 561-565
-
-
Lloyd-Evans, E.1
Pelled, D.2
Riebeling, C.3
Futerman, A.H.4
-
22
-
-
77950675049
-
Neuronopathic Gaucher disease in the mouse: Viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits
-
Sun Y, Liou B, Ran H, et al. Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits. Hum Mol Genet. 2010;19(6): 1088-1097.
-
(2010)
Hum Mol Genet
, vol.19
, Issue.6
, pp. 1088-1097
-
-
Sun, Y.1
Liou, B.2
Ran, H.3
-
23
-
-
62949116803
-
Lysosomal disorders: From storage to cellular damage
-
Ballabio A, Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochim Biophys Acta. 2009;1793(4):684-696.
-
(2009)
Biochim Biophys Acta
, vol.1793
, Issue.4
, pp. 684-696
-
-
Ballabio, A.1
Gieselmann, V.2
-
25
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
DOI 10.1073/pnas.0712309105
-
Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A. 2008;105(8): 2812-2817. (Pubitemid 351723626)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.8
, pp. 2812-2817
-
-
Aerts, J.M.1
Groener, J.E.2
Kuiper, S.3
Donker-Koopman, W.E.4
Strijland, A.5
Ottenhoff, R.6
Van Roomen, C.7
Mirzaian, M.8
Wijburg, F.A.9
Linthorst, G.E.10
Vedder, A.C.11
Rombach, S.M.12
Cox-Brinkman, J.13
Somerharju, P.14
Boot, R.G.15
Hollak, C.E.16
Brady, R.O.17
Poorthuis, B.J.18
-
26
-
-
27744465969
-
Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity
-
DOI 10.1093/intimm/dxh328
-
van Eijk M, van Roomen CP, Renkema GH, et al. Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity. Int Immunol. 2005;17(11):1505-1512. (Pubitemid 41631326)
-
(2005)
International Immunology
, vol.17
, Issue.11
, pp. 1505-1512
-
-
Van Eijk, M.1
Van Roomen, C.P.A.A.2
Renkema, G.H.3
Bussink, A.P.4
Andrews, L.5
Blommaart, E.F.C.6
Sugar, A.7
Verhoeven, A.J.8
Boot, R.G.9
Aerts, J.M.F.G.10
-
27
-
-
78649302683
-
Ultrasensitive in situ visualization of active glucocerebrosidase molecules
-
Witte MD, Kallemeijn WW, Aten J, et al. Ultrasensitive in situ visualization of active glucocerebrosidase molecules. Nat Chem Biol. 2010;6(12):907-913.
-
(2010)
Nat Chem Biol
, vol.6
, Issue.12
, pp. 907-913
-
-
Witte, M.D.1
Kallemeijn, W.W.2
Aten, J.3
-
28
-
-
34248153885
-
Monitoring of Gaucher patients with a novel chitotriosidase assay
-
DOI 10.1016/j.cca.2007.02.042, PII S0009898107001374
-
Schoonhoven A, Rudensky B, Elstein D, et al. Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin Chim Acta. 2007;381(2): 136-139. (Pubitemid 46719145)
-
(2007)
Clinica Chimica Acta
, vol.381
, Issue.2
, pp. 136-139
-
-
Schoonhoven, A.1
Rudensky, B.2
Elstein, D.3
Zimran, A.4
Hollak, C.E.M.5
Groener, J.E.6
Aerts, J.M.F.G.7
-
29
-
-
34250001946
-
Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease
-
DOI 10.1016/j.bbadis.2007.04.002, PII S0925443907000865
-
van Breemen MJ, de Fost M, Voerman JS, et al. Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1 beta levels in type 1 Gaucher disease. Biochim. Biophys. Acta. 2007; 1772(7):788-796. (Pubitemid 46891215)
-
(2007)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1772
, Issue.7
, pp. 788-796
-
-
Van Breemen, M.J.1
De Fost, M.2
Voerman, J.S.A.3
Laman, J.D.4
Boot, R.G.5
Maas, M.6
Hollak, C.E.M.7
Aerts, J.M.8
Rezaee, F.9
-
30
-
-
4344593367
-
Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages
-
DOI 10.1309/BG5V-A8JR-DQH1-M7HN
-
Boven LA, Van Meurs M, Boot RG, et al. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol. 2004;122(3):359-369. (Pubitemid 39145540)
-
(2004)
American Journal of Clinical Pathology
, vol.122
, Issue.3
, 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
-
31
-
-
70349246708
-
Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates
-
Bussink AP, Verhoek M, Vreede J, et al. Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates. FEBS J. 2009;276(19):5678-5688.
-
(2009)
FEBS J
, vol.276
, Issue.19
, pp. 5678-5688
-
-
Bussink, A.P.1
Verhoek, M.2
Vreede, J.3
-
32
-
-
0032475959
-
The human chitotriosidase gene. Nature of inherited enzyme deficiency
-
Boot RG, Renkema GH, Verhoek M, et al. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem. 1998;273(40): 25680-25685.
-
(1998)
J Biol Chem
, vol.273
, Issue.40
, pp. 25680-25685
-
-
Boot, R.G.1
Renkema, G.H.2
Verhoek, M.3
-
33
-
-
78650852552
-
Potential biomarkers of osteonecrosis in Gaucher disease
-
Pavlova EV, Deegan PB, Tindall J, et al. Potential biomarkers of osteonecrosis in Gaucher disease. Blood Cells Mol Dis. 2011;46(1):27-33.
-
(2011)
Blood Cells Mol Dis
, vol.46
, Issue.1
, pp. 27-33
-
-
Pavlova, E.V.1
Deegan, P.B.2
Tindall, J.3
-
34
-
-
64449083217
-
Different dose-dependent correction of MIP-1beta and chitotriosidase during initial enzyme replacement therapy
-
van Breemen MJ, de Fost M, Maas M, et al. Different dose-dependent correction of MIP-1beta and chitotriosidase during initial enzyme replacement therapy. J Inherit Metab Dis. 2009;32(2): 274-279.
-
(2009)
J Inherit Metab Dis
, vol.32
, Issue.2
, pp. 274-279
-
-
Van Breemen, M.J.1
De Fost, M.2
Maas, M.3
-
35
-
-
57649173607
-
Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III
-
Cox-Brinkman J, van Breemen MJ, van Maldegem BT, et al. Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III. J Inherit Metab Dis. 2008;31(6):745-752.
-
(2008)
J Inherit Metab Dis
, vol.31
, Issue.6
, pp. 745-752
-
-
Cox-Brinkman, J.1
Van Breemen, M.J.2
Van Maldegem, B.T.3
-
36
-
-
0036783707
-
Quantification of skeletal involvement in adults with type I Gaucher's disease: Fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter
-
Maas M, Hollak CE, Akkerman EM, Aerts JM, Stoker J, Den Heeten GJ. Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter. AJR Am J Roentgenol. 2002;179(4):961-965.
-
(2002)
AJR Am J Roentgenol
, vol.179
, Issue.4
, pp. 961-965
-
-
Maas, M.1
Hollak, C.E.2
Akkerman, E.M.3
Aerts, J.M.4
Stoker, J.5
Den Heeten, G.J.6
-
37
-
-
77957335215
-
Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: What have we learned?
-
Eitan Y, Abrahamov A, Phillips M, Elstein D, Zimran A. Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned? Prenat Diagn. 2010; 30(10):924-927.
-
(2010)
Prenat Diagn
, vol.30
, Issue.10
, pp. 924-927
-
-
Eitan, Y.1
Abrahamov, A.2
Phillips, M.3
Elstein, D.4
Zimran, A.5
-
38
-
-
0025727902
-
Characterization of human glucocerebrosidase from different mutant alleles
-
Ohashi T, Hong CM, Weiler S, et al. Characterization of human glucocerebrosidase from different mutant alleles. J Biol Chem. 1991;266(6):3661-3667. (Pubitemid 21909263)
-
(1991)
Journal of Biological Chemistry
, vol.266
, Issue.6
, pp. 3661-3667
-
-
Ohashi, T.1
Hong, C.M.2
Weiler, S.3
Tomich, J.M.4
Aerts, J.M.F.G.5
Tager, J.M.6
Barranger, J.A.7
-
39
-
-
78650805237
-
Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant
-
Bendikov-Bar I, Ron I, Filocamo M, Horowitz M. Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant. Blood Cells Mol Dis. 2011;46(1):4-10.
-
(2011)
Blood Cells Mol Dis
, vol.46
, Issue.1
, pp. 4-10
-
-
Bendikov-Bar, I.1
Ron, I.2
Filocamo, M.3
Horowitz, M.4
-
40
-
-
0031464244
-
Plasma and metabolic abnormalities in Gaucher's disease
-
DOI 10.1016/S0950-3536(97)80034-0
-
Aerts JM, Hollak CE. Plasma and metabolic abnormalities in Gaucher's disease. Baillieres Clin Haematol. 1997;10(4):691-709. (Pubitemid 28022203)
-
(1997)
Bailliere's Clinical Haematology
, vol.10
, Issue.4
, pp. 691-709
-
-
Aerts, J.M.F.1
Hollak, C.E.M.2
-
41
-
-
24644469894
-
Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease
-
DOI 10.1016/j.bcmd.2005.05.005, PII S1079979605000677
-
Deegan PB, Moran MT, McFarlane I, et al. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis. 2005;35(2):259-267. (Pubitemid 41267058)
-
(2005)
Blood Cells, Molecules, and Diseases
, vol.35
, Issue.2
, 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.F.G.6
Cox, T.M.7
-
42
-
-
0015383205
-
Enzymatic synthesis of glucosylsphingosine by rat brain microsomes
-
Curtino JA, Caputto R. Enzymatic synthesis of glucosylsphingosine by rat brain microsomes. Lipids. 1972;7(8):525-527.
-
(1972)
Lipids
, vol.7
, Issue.8
, pp. 525-527
-
-
Curtino, J.A.1
Caputto, R.2
-
43
-
-
0021962637
-
Characterization of human glucosylsphingosine glucosyl hydrolase and comparison with glucosylceramidase
-
DOI 10.1111/j.1432-1033.1985.tb08655.x
-
Vaccaro AM, Muscillo M, Suzuki K. Characterization of human glucosylsphingosine glucosyl hydrolase and comparison with glucosylceramidase. Eur J Biochem. 1985;146(2):315-321. (Pubitemid 15168858)
-
(1985)
European Journal of Biochemistry
, vol.146
, Issue.2
, pp. 315-321
-
-
Vaccaro, A.M.1
Muscillo, M.2
Suzuki, K.3
-
44
-
-
78650824268
-
The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation
-
Dekker N, Voorn-Brouwer T, Verhoek M, et al. The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation. Blood Cells Mol Dis. 2011;46(1):19-26.
-
(2011)
Blood Cells Mol Dis
, vol.46
, Issue.1
, pp. 19-26
-
-
Dekker, N.1
Voorn-Brouwer, T.2
Verhoek, M.3
-
45
-
-
0027990309
-
The synthetic pathway for glucosylsphingosine in cultured fibroblasts
-
Yamaguchi Y, Sasagasako N, Goto I, Kobayashi T. The synthetic pathway for glucosylsphingosine in cultured fibroblasts. J Biochem. 1994;116(3):704-710. (Pubitemid 24294806)
-
(1994)
Journal of Biochemistry
, vol.116
, Issue.3
, pp. 704-710
-
-
Yamaguchi, Y.1
Sasagasako, N.2
Goto, I.3
Kobayashi, T.4
-
46
-
-
36248977119
-
Non-neuronopathic Gaucher disease due to saposin C deficiency
-
DOI 10.1111/j.1399-0004.2007.00899.x
-
Tylki-Szymanska A, Czartoryska B, Vanier MT, et al. Non-neuronopathic Gaucher disease due to saposin C deficiency. Clin Genet. 2007;72(6): 538-542. (Pubitemid 350131059)
-
(2007)
Clinical Genetics
, vol.72
, Issue.6
, pp. 538-542
-
-
Tylki-Szymanska, A.1
Czartoryska, B.2
Vanier, M.-T.3
Poorthuis, B.J.M.H.4
Groener, J.A.E.5
Lugowska, A.6
Millat, G.7
Vaccaro, A.M.8
Jurkiewicz, E.9
-
47
-
-
0023607869
-
Effect of a heat-stable factor in human placenta on glucosylceramidase, glucosylsphingosine glucosyl hydrolase, and acid beta-glucosidase activities
-
DOI 10.1016/0009-9120(87)90010-5
-
Vaccaro AM, Muscillo M, Tatti M, Salvioli R, Gallozzi E, Suzuki K. Effect of a heat-stable factor in human placenta on glucosylceramidase, glucosylsphingosine glucosyl hydrolase, and acid beta-glucosidase activities. Clin Biochem. 1987;20(6): 429-433. (Pubitemid 18035414)
-
(1987)
Clinical Biochemistry
, vol.20
, Issue.6
, pp. 429-433
-
-
Vaccaro, A.M.1
Muscillo, M.2
Tatti, M.3
Salvioli, R.4
Gallozzi, E.5
Suzuki, K.6
-
48
-
-
0016891017
-
Comparative studies on chemical, hemolytic and diffusion-in-gel precipitation properties of various lysosphingolipids
-
Taketomi T, Kawamura N, Hara A, Murakami S. Comparative studies on chemical, hemolytic and diffusion-in-gel precipitation properties of various lysosphingolipids. Biochim Biophys Acta. 1976; 424(1):106-13.
-
(1976)
Biochim Biophys Acta
, vol.424
, Issue.1
, pp. 106-113
-
-
Taketomi, T.1
Kawamura, N.2
Hara, A.3
Murakami, S.4
-
49
-
-
0024541436
-
Functions of sphingolipids and sphingolipid breakdown products in cellular regulation
-
Hannun YA, Bell RM. Functions of sphingolipids and sphingolipid breakdown products in cellular regulation. Science. 1989;243(4890):500-507. (Pubitemid 19048748)
-
(1989)
Science
, vol.243
, Issue.4890
, pp. 500-507
-
-
Hannun, Y.A.1
Bell, R.M.2
-
50
-
-
78650275925
-
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy
-
van Breemen MJ, Rombach SM, Dekker N, et al. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta. 2011;1812(1):70-76.
-
(2011)
Biochim Biophys Acta
, vol.1812
, Issue.1
, pp. 70-76
-
-
Van Breemen, M.J.1
Rombach, S.M.2
Dekker, N.3
|