-
2
-
-
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. Am J Roentgenol 2002 179 : 961 5.
-
(2002)
Am J Roentgenol
, vol.179
, pp. 961-5
-
-
Maas, M.1
Hollak, C.E.2
Akkerman, E.M.3
Aerts, J.M.4
Stoker, J.5
Den Heeten, G.J.6
-
3
-
-
0028962656
-
Lysosomal storage diseases
-
Gieselmann V. Lysosomal storage diseases. Biochim Biophys Acta 1995 1270 : 103 36.
-
(1995)
Biochim Biophys Acta
, vol.1270
, pp. 103-36
-
-
Gieselmann, V.1
-
4
-
-
0000216808
-
Gaucher disease
-
In: Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., editors. New York: McGraw-Hill
-
Beutler E, Grabowski G. Gaucher disease. In : Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited diseases. New York : McGraw-Hill, 2001 : 3635 68.
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases.
, pp. 3635-68
-
-
Beutler, E.1
Grabowski, G.2
-
5
-
-
0013927537
-
Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease
-
Brady RO, Kanfer JN, Bradley RM, Shapiro D. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease. J Clin Invest 1966 45 : 1112 15.
-
(1966)
J Clin Invest
, vol.45
, pp. 1112-15
-
-
Brady, R.O.1
Kanfer, J.N.2
Bradley, R.M.3
Shapiro, D.4
-
6
-
-
0001973683
-
A deficiency of glucocerebrosidase in Gaucher's disease
-
Patrick A. A deficiency of glucocerebrosidase in Gaucher's disease. Biochem J 1965 97 : 17c 18c.
-
(1965)
Biochem J
, vol.97
-
-
Patrick, A.1
-
7
-
-
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
-
8
-
-
0023099774
-
Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts
-
Jonsson LM, Murray GJ, Sorrell SH, Strijland A, Aerts JF, Ginns EI, et al. Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts. Eur J Biochem 1987 164 : 171 9.
-
(1987)
Eur J Biochem
, vol.164
, pp. 171-9
-
-
Jonsson, L.M.1
Murray, G.J.2
Sorrell, S.H.3
Strijland, A.4
Aerts, J.F.5
Ginns, E.I.6
-
9
-
-
0027411566
-
Role of pH in determining the cell-type specific residual activity of glucocerebrosidase in type 1 Gaucher disease
-
van Weely S, van den Berg M, Barranger J, Sa Miranda MC, Tager JM, Aerts J. Role of pH in determining the cell-type specific residual activity of glucocerebrosidase in type 1 Gaucher disease. J Clin Invest 1993 91 : 1167 75.
-
(1993)
J Clin Invest
, vol.91
, pp. 1167-75
-
-
Van Weely, S.1
Van Den Berg, M.2
Barranger, J.3
Sa Miranda, M.C.4
Tager, J.M.5
Aerts, J.6
-
10
-
-
0027181075
-
Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease
-
Aerts JM, van Weely S, Boot R, Hollak CE, Tager JM. Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease. J Inherit Metab Dis 1993 16 : 288 91.
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 288-91
-
-
Aerts, J.M.1
Van Weely, S.2
Boot, R.3
Hollak, C.E.4
Tager, J.M.5
-
11
-
-
0031436478
-
Gaucher's disease: Clinical features and natural history
-
Cox TM, Schofield JP. Gaucher's disease: clinical features and natural history. Baillieres Clin Haematol 1997 10 : 657 89.
-
(1997)
Baillieres Clin Haematol
, vol.10
, pp. 657-89
-
-
Cox, T.M.1
Schofield, J.P.2
-
12
-
-
1842834057
-
Twin pairs showing discordance of phenotype in adult Gaucher's disease
-
Lachmann RH, Grant IR, Halsall D, Cox TM. Twin pairs showing discordance of phenotype in adult Gaucher's disease. Q J Med 2004 97 : 199 204.
-
(2004)
Q J Med
, vol.97
, pp. 199-204
-
-
Lachmann, R.H.1
Grant, I.R.2
Halsall, D.3
Cox, T.M.4
-
13
-
-
0027532181
-
Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease
-
van Weely S, Brandsma M, Strijland A, Tager JM, Aerts JM. Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease. Biochim Biophys Acta 1993 1181 : 55 62.
-
(1993)
Biochim Biophys Acta
, vol.1181
, pp. 55-62
-
-
Van Weely, S.1
Brandsma, M.2
Strijland, A.3
Tager, J.M.4
Aerts, J.M.5
-
14
-
-
33846994522
-
Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2
-
Boot RG, Verhoek M, Donker-Koopman W, Strijland A, van Marle J, Overkleeft HS, et al. Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2. J Biol Chem 2007 282 : 1305 12.
-
(2007)
J Biol Chem
, vol.282
, pp. 1305-12
-
-
Boot, R.G.1
Verhoek, M.2
Donker-Koopman, W.3
Strijland, A.4
Van Marle, J.5
Overkleeft, H.S.6
-
15
-
-
33750595463
-
Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility
-
Yildiz Y, Matern H, Thompson B, Allegood JC, Warren RL, Ramirez DM, et al. Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility. J Clin Invest 2006 116 : 2985 94.
-
(2006)
J Clin Invest
, vol.116
, pp. 2985-94
-
-
Yildiz, Y.1
Matern, H.2
Thompson, B.3
Allegood, J.C.4
Warren, R.L.5
Ramirez, D.M.6
-
16
-
-
4344593367
-
Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages
-
Boven LA, van Meurs M, Boot RG, Mehta A, Boon L, Aerts JM, et al. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol 2004 122 : 359 69.
-
(2004)
Am J Clin Pathol
, vol.122
, pp. 359-69
-
-
Boven, L.A.1
Van Meurs, M.2
Boot, R.G.3
Mehta, A.4
Boon, L.5
Aerts, J.M.6
-
17
-
-
34250001946
-
Increased plasma macrophage inflammatory protein (MIP)-1 alpha and MIP-1 beta levels in type 1 Gaucher disease
-
van Breemen MJ, de Fost M, Voerman JS, Laman JD, Boot R, Maas M, et al. Increased plasma macrophage inflammatory protein (MIP)-1 alpha and MIP-1 beta levels in type 1 Gaucher disease. Biochim Biophys Acta 2007 1772 : 788 96.
-
(2007)
Biochim Biophys Acta
, vol.1772
, pp. 788-96
-
-
Van Breemen, M.J.1
De Fost, M.2
Voerman, J.S.3
Laman, J.D.4
Boot, R.5
Maas, M.6
-
18
-
-
0031464244
-
Plasma and metabolic abnormalities in Gaucher's disease
-
Aerts JM, Hollak CE. Plasma and metabolic abnormalities in Gaucher's disease. Baillieres Clin Haematol 1997 10 : 691 709.
-
(1997)
Baillieres Clin Haematol
, vol.10
, pp. 691-709
-
-
Aerts, J.M.1
Hollak, C.E.2
-
19
-
-
9144222696
-
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: A novel surrogate marker for assessing therapeutic intervention
-
Boot RG, Verhoek M, de Fost M, Hollak CE, Maas M, Bleijlevens B, et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 2004 103 : 33 9.
-
(2004)
Blood
, vol.103
, pp. 33-9
-
-
Boot, R.G.1
Verhoek, M.2
De Fost, M.3
Hollak, C.E.4
Maas, M.5
Bleijlevens, B.6
-
20
-
-
0035157905
-
Gaucher disease: Understanding the molecular pathogenesis of sphingolipidoses
-
Cox TM. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis 2001 24 (Suppl 2) : 106 21.
-
(2001)
J Inherit Metab Dis
, vol.24
, Issue.2
, pp. 106-21
-
-
Cox, T.M.1
-
21
-
-
0034284271
-
Pathologic gene expression in Gaucher disease: Up-regulation of cysteine proteinases including osteoclastic cathepsin K
-
Moran MT, Schofield JP, Hayman AR, Shi GP, Young E, Cox TM. Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood 2000 96 : 1969 78.
-
(2000)
Blood
, vol.96
, pp. 1969-78
-
-
Moran, M.T.1
Schofield, J.P.2
Hayman, A.R.3
Shi, G.P.4
Young, E.5
Cox, T.M.6
-
22
-
-
0025236339
-
Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease
-
Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 1990 87 : 1913 16.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 1913-16
-
-
Barton, N.W.1
Furbish, F.S.2
Murray, G.J.3
Garfield, M.4
Brady, R.O.5
-
23
-
-
0034728914
-
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox T, Lachmann R, Hollak C, Aerts J, van Weely S, Hrebicek M, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000 355 : 1481 5.
-
(2000)
Lancet
, vol.355
, pp. 1481-5
-
-
Cox, T.1
Lachmann, R.2
Hollak, C.3
Aerts, J.4
Van Weely, S.5
Hrebicek, M.6
-
24
-
-
33745112205
-
Substrate reduction therapy of glycosphingolipid storage disorders
-
Aerts JM, Hollak CE, Boot RG, Groener JE, Maas M. Substrate reduction therapy of glycosphingolipid storage disorders. J Inherit Metab Dis 2006 29 : 449 56.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 449-56
-
-
Aerts, J.M.1
Hollak, C.E.2
Boot, R.G.3
Groener, J.E.4
Maas, M.5
-
25
-
-
10744226382
-
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement
-
Cox TM, Aerts JM, Andria G, Beck M, Belmatoug N, Bembi B, et al. 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 : 513 26.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 513-26
-
-
Cox, T.M.1
Aerts, J.M.2
Andria, G.3
Beck, M.4
Belmatoug, N.5
Bembi, B.6
-
26
-
-
33748541288
-
The biology of the Gaucher cell: The cradle of human chitinases
-
Bussink AP, van Eijk M, Renkema GH, Aerts JM, Boot RG. The biology of the Gaucher cell: the cradle of human chitinases. Int Rev Cytol 2006 252 : 71 128.
-
(2006)
Int Rev Cytol
, vol.252
, pp. 71-128
-
-
Bussink, A.P.1
Van Eijk, M.2
Renkema, G.H.3
Aerts, J.M.4
Boot, R.G.5
-
27
-
-
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 : 1288 92.
-
(1994)
J Clin Invest
, vol.93
, pp. 1288-92
-
-
Hollak, C.E.1
Van Weely, S.2
Van Oers, M.H.3
Aerts, J.M.4
-
28
-
-
0028911536
-
Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins
-
Renkema GH, Boot RG, Muijsers AO, Donker-Koopman WE, Aerts JM. Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins. J Biol Chem 1995 270 : 2198 202.
-
(1995)
J Biol Chem
, vol.270
, pp. 2198-202
-
-
Renkema, G.H.1
Boot, R.G.2
Muijsers, A.O.3
Donker-Koopman, W.E.4
Aerts, J.M.5
-
29
-
-
0028799896
-
Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages
-
Boot RG, Renkema GH, Strijland A, van Zonneveld AJ, Aerts JM. Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages. J Biol Chem 1995 270 : 26252 6.
-
(1995)
J Biol Chem
, vol.270
, pp. 26252-6
-
-
Boot, R.G.1
Renkema, G.H.2
Strijland, A.3
Van Zonneveld, A.J.4
Aerts, J.M.5
-
30
-
-
17044455396
-
Transglycosidase activity of chitotriosidase: Improved enzymatic assay for the human macrophage chitinase
-
Aguilera B, Ghauharali-van der Vlugt K, Helmond MT, Out JM, Donker-Koopman WE, Groener JE, et al. Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase. J Biol Chem 2003 278 : 40911 16.
-
(2003)
J Biol Chem
, vol.278
, pp. 40911-16
-
-
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
-
31
-
-
0032475959
-
The human chitotriosidase gene. Nature of inherited enzyme deficiency
-
Boot RG, Renkema GH, Verhoek M, Strijland A, Bliek J, de Meulemeester TM, et al. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem 1998 273 : 25680 5.
-
(1998)
J Biol Chem
, vol.273
, pp. 25680-5
-
-
Boot, R.G.1
Renkema, G.H.2
Verhoek, M.3
Strijland, A.4
Bliek, J.5
De Meulemeester, T.M.6
-
32
-
-
34248153885
-
Monitoring of Gaucher patients with a novel chitotriosidase assay
-
Schoonhoven A, Rudensky B, Elstein D, Zimran A, Hollak CE, Groener JE, et al. Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin Chim Acta 2007 381 : 136 9.
-
(2007)
Clin Chim Acta
, vol.381
, pp. 136-9
-
-
Schoonhoven, A.1
Rudensky, B.2
Elstein, D.3
Zimran, A.4
Hollak, C.E.5
Groener, J.E.6
-
33
-
-
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.
-
de Fost M, Hollak C, Groener JE, Aerts J, Maas M, Poll L, 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 : 830 5.
-
(2006)
Blood
, vol.108
, pp. 830-5
-
-
De Fost, M.1
Hollak, C.2
Groener, J.E.3
Aerts, J.4
Maas, M.5
Poll, L.6
-
34
-
-
33746875515
-
CCL18: A urinary marker of Gaucher cell burden in Gaucher patients
-
Boot RG, Verhoek M, Langeveld M, Renkema GH, Hollak CE, Weening JJ, et al. CCL18: a urinary marker of Gaucher cell burden in Gaucher patients. J Inherit Metab Dis 2006 29 : 564 71.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 564-71
-
-
Boot, R.G.1
Verhoek, M.2
Langeveld, M.3
Renkema, G.H.4
Hollak, C.E.5
Weening, J.J.6
-
35
-
-
24644469894
-
Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease
-
Deegan PB, Moran MT, McFarlane I, Schofield JP, Boot RG, Aerts JM, et al. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis 2005 35 : 259 67.
-
(2005)
Blood Cells Mol Dis
, vol.35
, pp. 259-67
-
-
Deegan, P.B.1
Moran, M.T.2
McFarlane, I.3
Schofield, J.P.4
Boot, R.G.5
Aerts, J.M.6
-
36
-
-
0035152361
-
Clinically relevant therapeutic endpoints in type 1 Gaucher disease
-
Hollak C, Maas M, Aerts J. Clinically relevant therapeutic endpoints in type 1 Gaucher disease. J Inherit Metab Dis 2001 24 (Suppl 2) : 97 105.
-
(2001)
J Inherit Metab Dis
, vol.24
, Issue.2
, pp. 97-105
-
-
Hollak, C.1
Maas, M.2
Aerts, J.3
-
37
-
-
33746623671
-
Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease
-
Zimran A, Elstein D, Beutler E. Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease. Blood 2006 108 : 802 3.
-
(2006)
Blood
, vol.108
, pp. 802-3
-
-
Zimran, A.1
Elstein, D.2
Beutler, E.3
-
38
-
-
33846023302
-
Low-dose versus high-dose therapy for Gaucher disease: Goals and markers
-
Hollak C, de Fost M, Aerts J, vom Dahl S. Low-dose versus high-dose therapy for Gaucher disease: goals and markers. Blood 2007 109 : 387 8.
-
(2007)
Blood
, vol.109
, pp. 387-8
-
-
Hollak, C.1
De Fost, M.2
Aerts, J.3
Vom Dahl, S.4
-
40
-
-
34147204029
-
HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma
-
Groener JE, Poorthuis BJ, Kuiper S, Helmond MT, Hollak CE, Aerts JM. HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma. Clin Chem 2007 53 : 742 7.
-
(2007)
Clin Chem
, vol.53
, pp. 742-7
-
-
Groener, J.E.1
Poorthuis, B.J.2
Kuiper, S.3
Helmond, M.T.4
Hollak, C.E.5
Aerts, J.M.6
-
41
-
-
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 : 312 7.
-
(2006)
Acta Paediatr
, vol.95
, pp. 312-7
-
-
Erikson, A.1
Forsberg, H.2
Nilsson, M.3
Astrom, M.4
Mansson, J.E.5
-
42
-
-
13844276598
-
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease
-
Mills K, Morris P, Lee P, Vellodi A, Waldek S, Young E, et al. Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. J Inherit Metab Dis 2005 28 : 35 48.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 35-48
-
-
Mills, K.1
Morris, P.2
Lee, P.3
Vellodi, A.4
Waldek, S.5
Young, E.6
-
43
-
-
23044457558
-
Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease
-
An Y, Young SP, Kishnani PS, Millington DS, Amalfitano A, Corz D, et al. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab 2005 85 : 247 54.
-
(2005)
Mol Genet Metab
, vol.85
, pp. 247-54
-
-
An, Y.1
Young, S.P.2
Kishnani, P.S.3
Millington, D.S.4
Amalfitano, A.5
Corz, D.6
-
44
-
-
25144486704
-
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses
-
Tomatsu S, Gutierrez MA, Ishimaru T, Pena OM, Montano AM, Maeda H, et al. Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis 2005 28 : 743 57.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 743-57
-
-
Tomatsu, S.1
Gutierrez, M.A.2
Ishimaru, T.3
Pena, O.M.4
Montano, A.M.5
Maeda, H.6
-
45
-
-
21144434782
-
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses
-
Tomatsu S, Okamura K, Maeda H, Taketani T, Castrillon SV, Gutierrez MA, et al. Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis 2005 28 : 187 202.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 187-202
-
-
Tomatsu, S.1
Okamura, K.2
Maeda, H.3
Taketani, T.4
Castrillon, S.V.5
Gutierrez, M.A.6
-
46
-
-
33745484772
-
Heparin cofactor II-thrombin complex in MPS I: A biomarker of MPS disease
-
Randall DR, Sinclair GB, Colobong KE, Hetty E, Clarke LA. Heparin cofactor II-thrombin complex in MPS I: a biomarker of MPS disease. Mol Genet Metab 2006 88 : 235 43.
-
(2006)
Mol Genet Metab
, vol.88
, pp. 235-43
-
-
Randall, D.R.1
Sinclair, G.B.2
Colobong, K.E.3
Hetty, E.4
Clarke, L.A.5
-
47
-
-
33750090709
-
The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: A review of the literature
-
Bekri S, Lidove O, Jaussaud R, Knebelmann B, Barbey F. The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature. Cardiovasc Hematol Agents Med Chem 2006 4 : 289 97.
-
(2006)
Cardiovasc Hematol Agents Med Chem
, vol.4
, pp. 289-97
-
-
Bekri, S.1
Lidove, O.2
Jaussaud, R.3
Knebelmann, B.4
Barbey, F.5
-
48
-
-
16844377475
-
Is globotriaosylceramide a useful biomarker in Fabry disease?
-
Young E, Mills K, Morris P, Vellodi A, Lee P, Waldek S, et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr 2005 94 (Suppl 447 51 4.
-
(2005)
Acta Paediatr
, vol.94
, Issue.447
, pp. 51-4
-
-
Young, E.1
Mills, K.2
Morris, P.3
Vellodi, A.4
Lee, P.5
Waldek, S.6
-
49
-
-
20844448872
-
Monitoring enzyme replacement therapy in Fabry disease: Role of urine globotriaosylceramide
-
Whitfield PD, Calvin J, Hogg S, O'Driscoll E, Halsall D, Burling K, et al. Monitoring enzyme replacement therapy in Fabry disease: role of urine globotriaosylceramide. J Inherit Metab Dis 2005 28 : 21 33.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 21-33
-
-
Whitfield, P.D.1
Calvin, J.2
Hogg, S.3
O'Driscoll, E.4
Halsall, D.5
Burling, K.6
-
50
-
-
14844311934
-
Candidate-based proteomics in the search for biomarkers of cardiovascular disease
-
Anderson L. Candidate-based proteomics in the search for biomarkers of cardiovascular disease. J Physiol 2005 563 : 23 60.
-
(2005)
J Physiol
, vol.563
, pp. 23-60
-
-
Anderson, L.1
-
51
-
-
33847327950
-
Proteomics of specific treatment-related alterations in Fabry disease: A strategy to identify biological abnormalities
-
Moore DF, Krokhin OV, Beavis RC, Ries M, Robinson C, Goldin E, et al. Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities. Proc Natl Acad Sci USA 2007 104 : 2873 8.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 2873-8
-
-
Moore, D.F.1
Krokhin, O.V.2
Beavis, R.C.3
Ries, M.4
Robinson, C.5
Goldin, E.6
-
52
-
-
0043198426
-
Proteomic tools for quantitation by mass spectrometry
-
Lill J. Proteomic tools for quantitation by mass spectrometry. Mass Spectrom Rev 2003 22 : 182 94.
-
(2003)
Mass Spectrom Rev
, vol.22
, pp. 182-94
-
-
Lill, J.1
-
53
-
-
0036629573
-
Modern strategies for protein quantification in proteome analysis: Advantages and limitations
-
Hamdan M, Righetti PG. Modern strategies for protein quantification in proteome analysis: advantages and limitations. Mass Spectrom Rev 2002 21 : 287 302.
-
(2002)
Mass Spectrom Rev
, vol.21
, pp. 287-302
-
-
Hamdan, M.1
Righetti, P.G.2
-
54
-
-
33644524918
-
Mass spectrometry-based proteomics turns quantitative
-
Ong SE, Mann M. Mass spectrometry-based proteomics turns quantitative. Nat Chem Biol 2005 1 : 252 62.
-
(2005)
Nat Chem Biol
, vol.1
, pp. 252-62
-
-
Ong, S.E.1
Mann, M.2
-
55
-
-
31644446949
-
Absolute quantification of proteins by LCMSE: A virtue of parallel MS acquisition
-
Silva JC, Gorenstein MV, Li GZ, Vissers JP, Geromanos SJ. Absolute quantification of proteins by LCMSE: a virtue of parallel MS acquisition. Mol Cell Proteomics 2006 5 : 144 56.
-
(2006)
Mol Cell Proteomics
, vol.5
, pp. 144-56
-
-
Silva, J.C.1
Gorenstein, M.V.2
Li, G.Z.3
Vissers, J.P.4
Geromanos, S.J.5
-
56
-
-
34249657456
-
Analysis and quantification of diagnostic serum markers and protein signatures for Gaucher disease
-
Vissers JP, Langridge JI, Aerts JM. Analysis and quantification of diagnostic serum markers and protein signatures for Gaucher disease. Mol Cell Proteomics 2007 6 : 755 66.
-
(2007)
Mol Cell Proteomics
, vol.6
, pp. 755-66
-
-
Vissers, J.P.1
Langridge, J.I.2
Aerts, J.M.3
-
57
-
-
8044248969
-
Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy
-
Hollak CE, Levi M, Berends F, Aerts JM, van Oers MH. Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy. Br J Haematol 1997 96 : 470 6.
-
(1997)
Br J Haematol
, vol.96
, pp. 470-6
-
-
Hollak, C.E.1
Levi, M.2
Berends, F.3
Aerts, J.M.4
Van Oers, M.H.5
-
58
-
-
33749621808
-
Limitations in quantitation of the biomarker CCL18 in Gaucher disease blood samples by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry
-
van Breemen MJ, Bleijlevens B, de Koster CG, Aerts J. Limitations in quantitation of the biomarker CCL18 in Gaucher disease blood samples by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry. Biochem Biophys Acta 2006 1764 : 1626 32.
-
(2006)
Biochem Biophys Acta
, vol.1764
, pp. 1626-32
-
-
Van Breemen, M.J.1
Bleijlevens, B.2
De Koster, C.G.3
Aerts, J.4
-
59
-
-
34248532830
-
Assessing the statistical validity of proteomics based biomarkers
-
Smit S, van Breemen MJ, Hoefsloot HC, Smilde AK, Aerts JM, de Koster CG. Assessing the statistical validity of proteomics based biomarkers. Anal Chim Acta 2007 592 : 210 17.
-
(2007)
Anal Chim Acta
, vol.592
, pp. 210-17
-
-
Smit, S.1
Van Breemen, M.J.2
Hoefsloot, H.C.3
Smilde, A.K.4
Aerts, J.M.5
De Koster, C.G.6
-
60
-
-
16844372200
-
Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases
-
Aerts JM, Hollak CE, van Breemen M, Maas M, Groener JE, Boot RG. Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases. Acta Paediatr 2005 94 (Suppl 447 43 6.
-
(2005)
Acta Paediatr
, vol.94
, Issue.447
, pp. 43-6
-
-
Aerts, J.M.1
Hollak, C.E.2
Van Breemen, M.3
Maas, M.4
Groener, J.E.5
Boot, R.G.6
-
61
-
-
0035157504
-
Are there useful biochemical markers of disease activity in lysosomal storage diseases?
-
Winchester B. Are there useful biochemical markers of disease activity in lysosomal storage diseases? J Inherit Metab Dis 2001 24 (Suppl 2 52 6.
-
(2001)
J Inherit Metab Dis
, vol.24
, Issue.2
, pp. 52-6
-
-
Winchester, B.1
-
62
-
-
0029565165
-
Elevated plasma chitotriosidase activity in various lysosomal storage disorders
-
Guo Y, He W, Boer AM, Wevers RA, de Bruijn AM, Groener JE, et al. Elevated plasma chitotriosidase activity in various lysosomal storage disorders. J Inherit Metab Dis 1995 18 : 717 22.
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 717-22
-
-
Guo, Y.1
He, W.2
Boer, A.M.3
Wevers, R.A.4
De Bruijn, A.M.5
Groener, J.E.6
-
63
-
-
13844275446
-
Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease
-
Brinkman J, Wijburg FA, Hollak CE, Groener JE, Verhoek M, Scheij S, et al. Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. J Inherit Metab Dis 2005 28 : 13 20.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 13-20
-
-
Brinkman, J.1
Wijburg, F.A.2
Hollak, C.E.3
Groener, J.E.4
Verhoek, M.5
Scheij, S.6
-
64
-
-
33748957309
-
Plasma chitotriosidase in male Fabry patients: A marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy
-
Vedder AC, Cox-Brinkman J, Hollak CE, Linthorst GE, Groener JE, Helmond MT, et al. Plasma chitotriosidase in male Fabry patients: a marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy. Mol Genet Metab 2006 89 : 239 44.
-
(2006)
Mol Genet Metab
, vol.89
, pp. 239-44
-
-
Vedder, A.C.1
Cox-Brinkman, J.2
Hollak, C.E.3
Linthorst, G.E.4
Groener, J.E.5
Helmond, M.T.6
|