-
1
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
Aerts JM, Groener JE, Kuiper S et al (2008) Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 105:2812–2817. doi:10.1073/pnas.0712309105
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 2812-2817
-
-
Aerts, J.M.1
Groener, J.E.2
Kuiper, S.3
-
2
-
-
1642275654
-
Signaling danger: Toll-like receptors and their potential roles in kidney disease
-
Anders H-J, Banas B, Schlöndorff D (2004) Signaling danger: toll-like receptors and their potential roles in kidney disease. J Am Soc Nephrol 15:854–867
-
(2004)
J am Soc Nephrol
, vol.15
, pp. 854-867
-
-
Anders, H.-J.1
Banas, B.2
Schlöndorff, D.3
-
3
-
-
54849425572
-
Anomalies in conventional T and invariant natural killer T-cell populations in Fabry mice but not in Fabry patients
-
Balreira A, Macedo MF, Girão C et al (2008) Anomalies in conventional T and invariant natural killer T-cell populations in Fabry mice but not in Fabry patients. Br J Haematol 143:601–604. doi:10.1111/j.1365-2141.2008.07380.x
-
(2008)
Br J Haematol
, vol.143
, pp. 601-604
-
-
Balreira, A.1
Macedo, M.F.2
Girão, C.3
-
4
-
-
44349126743
-
TLR4 links podocytes with the innate immune system to mediate glomerular injury
-
Banas MC, Banas B, Hudkins KL et al (2008) TLR4 links podocytes with the innate immune system to mediate glomerular injury. J Am Soc Nephrol 19:704–713. doi:10.1681/ASN.2007040395
-
(2008)
J am Soc Nephrol
, vol.19
, pp. 704-713
-
-
Banas, M.C.1
Banas, B.2
Hudkins, K.L.3
-
5
-
-
33846908304
-
Agalsidase-beta therapy for advanced Fabry disease: A randomized trial
-
Banikazemi M, Bultas J, Waldek S et al (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146:77–86
-
(2007)
Ann Intern Med
, vol.146
, pp. 77-86
-
-
Banikazemi, M.1
Bultas, J.2
Waldek, S.3
-
6
-
-
84879340927
-
Algorithm for the early diagnosis and treatment of patients with cross reactive immuno-immuno-logic material-negative classic infantile Pompe disease: A step towards improving the efficacy of ERT
-
Banugaria SG, Prater SN, Patel TT et al (2013) Algorithm for the early diagnosis and treatment of patients with cross reactive immuno-immuno-logic material-negative classic infantile Pompe disease: a step towards improving the efficacy of ERT. PLoS One 8(6):e67052 logic
-
(2013)
Plos One
, vol.8
, Issue.6
-
-
Banugaria, S.G.1
Prater, S.N.2
Patel, T.T.3
-
7
-
-
39749149610
-
Fabry nephropathy: 5 years of enzyme replacement therapy—a short review
-
Barbey F, Lidove O, Schwarting A (2008) Fabry nephropathy: 5 years of enzyme replacement therapy—a short review. NDT Plus 1 (1):11–19
-
(2008)
NDT Plus
, vol.1
, Issue.1
, pp. 11-19
-
-
Barbey, F.1
Lidove, O.2
Schwarting, A.3
-
8
-
-
69549084381
-
Demographics of FOS – the Fabry outcome survey
-
Mehta A, Beck M, Sunder-Plassmann G, Oxford PharmaGenesis, Oxford
-
Beck M (2006) Demographics of FOS – the Fabry outcome survey. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Fabry disease: perspectives from 5 years of FOS. Oxford PharmaGenesis, Oxford
-
(2006)
Fabry Disease: Perspectives from 5 Years of FOS
-
-
Beck, M.1
-
9
-
-
84888337580
-
Importance of glycosylation in enzyme replacement therapy
-
Mehta A, Beck M, Sunder-Plassmann G, Oxford PharmaGenesis, Oxford
-
Bekri S (2006) Importance of glycosylation in enzyme replacement therapy. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Source Fabry disease: perspectives from 5 years of FOS. Oxford PharmaGenesis, Oxford
-
(2006)
Source Fabry Disease: Perspectives from 5 Years of FOS
-
-
Bekri, S.1
-
10
-
-
57449085309
-
A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease
-
Bénichou B, Goyal S, Sung C et al (2009) A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease. Mol Genet Metab 96:4–12. doi:10.1016/j.ymgme.2008.10.004
-
(2009)
Mol Genet Metab
, vol.96
, pp. 4-12
-
-
Bénichou, B.1
Goyal, S.2
Sung, C.3
-
11
-
-
83255165401
-
Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy
-
Biancini GB, Vanzin CS, Rodrigues DB et al (2012) Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy. Biochim Biophys Acta 1822:226–232. doi:10.1016/j. bbadis.2011.11.001
-
(2012)
Biochim Biophys Acta
, vol.1822
, pp. 226-232
-
-
Biancini, G.B.1
Vanzin, C.S.2
Rodrigues, D.B.3
-
12
-
-
84876225140
-
Pharmacological chaperones as therapeutics for lysosomal storage diseases
-
Boyd RE, Lee G, Rybczynski P et al (2013) Pharmacological chaperones as therapeutics for lysosomal storage diseases. J Med Chem 56:2705–2725. doi:10.1021/jm301557k
-
(2013)
J Med Chem
, vol.56
, pp. 2705-2725
-
-
Boyd, R.E.1
Lee, G.2
Rybczynski, P.3
-
13
-
-
78650653266
-
On/off TLR signaling decides proinflammatory or tolerogenic dendritic cell maturation upon CD1d-mediated interaction with invariant NKT cells
-
Caielli S, Conforti-Andreoni C, Di Pietro C et al (2010) On/off TLR signaling decides proinflammatory or tolerogenic dendritic cell maturation upon CD1d-mediated interaction with invariant NKT cells. J Immunol 185:7317–7329. doi:10.4049/jimmu-nol.1000400
-
(2010)
J Immunol
, vol.185
, pp. 7317-7329
-
-
Caielli, S.1
Conforti-Andreoni, C.2
Di Pietro, C.3
-
14
-
-
4544344055
-
Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy
-
Chimenti C, Pieroni M, Morgante E et al (2004) Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 110:1047–1053. doi:10.1161/01. CIR.0000139847.74101.03
-
(2004)
Circulation
, vol.110
, pp. 1047-1053
-
-
Chimenti, C.1
Pieroni, M.2
Morgante, E.3
-
15
-
-
84863672991
-
Modulatory function of invariant natural killer T cells in systemic lupus erythematosus
-
Chuang Y-P, Wang C-H, Wang N-C et al (2012) Modulatory function of invariant natural killer T cells in systemic lupus erythematosus. Clin Dev Immunol 2012:478429. doi:10.1155/2012/478429
-
(2012)
Clin Dev Immunol
, vol.2012
-
-
Chuang, Y.-P.1
Wang, C.-H.2
Wang, N.-C.3
-
17
-
-
84876094499
-
Fabry disease peripheral blood immune cells release inflammatory cytokines: Role of globotriaosylceramide
-
De Francesco PN, Mucci JM, Ceci R et al (2013) Fabry disease peripheral blood immune cells release inflammatory cytokines: role of globotriaosylceramide. Mol Genet Metab 109:93–99. doi:10.1016/j.ymgme.2013.02.003
-
(2013)
Mol Genet Metab
, vol.109
, pp. 93-99
-
-
de Francesco, P.N.1
Mucci, J.M.2
Ceci, R.3
-
18
-
-
78649323564
-
High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa
-
De Vries JM, van der Beek NAME, Kroos MA et al (2010) High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa. Mol Genet Metab 101:338–345. doi:10.1016/j.ymgme.2010.08.009
-
(2010)
Mol Genet Metab
, vol.101
, pp. 338-345
-
-
de Vries, J.M.1
van der Beek, N.A.M.E.2
Kroos, M.A.3
-
19
-
-
84863455467
-
Fabry disease, enzyme replacement therapy and the significance of antibody responses
-
Deegan PB (2012) Fabry disease, enzyme replacement therapy and the significance of antibody responses. J Inherit Metab Dis 35:227–243. doi:10.1007/s10545-011-9400-y
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 227-243
-
-
Deegan, P.B.1
-
20
-
-
0033950217
-
Profile of endothelial and leukocyte activation in Fabry patients
-
DeGraba T, Azhar S, Dignat-George F et al (2000) Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 47:229–233
-
(2000)
Ann Neurol
, vol.47
, pp. 229-233
-
-
Degraba, T.1
Azhar, S.2
Dignat-George, F.3
-
21
-
-
48749103550
-
Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I
-
Dickson P, Peinovich M, McEntee M et al (2008) Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I. J Clin Invest 118(8):2868–2876
-
(2008)
J Clin Invest
, vol.118
, Issue.8
, pp. 2868-2876
-
-
Dickson, P.1
Peinovich, M.2
McEntee, M.3
-
23
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A–replacement therapy in Fabry’s disease
-
Eng CM, Guffon N, Wilcox WR et al (2001) Safety and efficacy of recombinant human alpha-galactosidase A–replacement therapy in Fabry’s disease. N Engl J Med 345:9–16. doi:10.1056/NEJM200107053450102
-
(2001)
N Engl J Med
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
-
24
-
-
84871031500
-
Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: A retrospective cohort study of the Fabry Munster Study (FaMuS) data
-
Engelen MA, Brand E, Baumeister TB et al (2012) Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: a retrospective cohort study of the Fabry Munster Study (FaMuS) data. BMJ Open. doi:10.1136/bmjopen-2012-000879
-
(2012)
BMJ Open
-
-
Engelen, M.A.1
Brand, E.2
Baumeister, T.B.3
-
25
-
-
19944375153
-
Enzyme replacement therapy in Japanese Fabry disease patients: The results of a phase 2 bridging study
-
Eto Y, Ohashi T, Utsunomiya Y et al (2005) Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging study. J Inherit Metab Dis 28:575–583. doi:10.1007/s10545-005-0575-y
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 575-583
-
-
Eto, Y.1
Ohashi, T.2
Utsunomiya, Y.3
-
26
-
-
79961046765
-
Epidemiology of lysosomal storage diseases: An overview
-
Mehta A, Beck M, Sunder-Plassmann G, Oxford PharmaGenesis, Oxford
-
Fuller M, Meikle PJ, Hopwood JJ (2006) Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Source Fabry disease: perspectives from 5 years of FOS. Oxford PharmaGenesis, Oxford
-
(2006)
Source Fabry Disease: Perspectives from 5 Years of FOS
-
-
Fuller, M.1
Meikle, P.J.2
Hopwood, J.J.3
-
27
-
-
33749346679
-
Impaired selection of invariant natural killer T cells in diverse mouse models of glycosphingolipid lysosomal storage diseases
-
Gadola SD, Silk JD, Jeans A et al (2006) Impaired selection of invariant natural killer T cells in diverse mouse models of glycosphingolipid lysosomal storage diseases. J Exp Med 203:2293–2303. doi:10.1084/jem.20060921
-
(2006)
J Exp Med
, vol.203
, pp. 2293-2303
-
-
Gadola, S.D.1
Silk, J.D.2
Jeans, A.3
-
28
-
-
4344627627
-
Methotrexate reduces antibody responses to recombinant human alpha-galactosidase A therapy in a mouse model of Fabry disease
-
Garman RD, Munroe K, Richards SM (2004) Methotrexate reduces antibody responses to recombinant human alpha-galactosidase A therapy in a mouse model of Fabry disease. Clin Exp Immunol 137:496–502. doi:10.1111/j.1365-2249.2004.02567.x
-
(2004)
Clin Exp Immunol
, vol.137
, pp. 496-502
-
-
Garman, R.D.1
Munroe, K.2
Richards, S.M.3
-
29
-
-
34248190164
-
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
-
Germain DP, Waldek S, Banikazemi M et al (2007) Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 18:1547–1557. doi:10.1681/ASN.2006080816
-
(2007)
J am Soc Nephrol
, vol.18
, pp. 1547-1557
-
-
Germain, D.P.1
Waldek, S.2
Banikazemi, M.3
-
30
-
-
0037018101
-
Functionally distinct subsets of CD1d-restricted natural killer T cells revealed by CD1d tetramer staining
-
Gumperz JE, Miyake S, Yamamura T, Brenner MB (2002) Functionally distinct subsets of CD1d-restricted natural killer T cells revealed by CD1d tetramer staining. J Exp Med 195:625–636
-
(2002)
J Exp Med
, vol.195
, pp. 625-636
-
-
Gumperz, J.E.1
Miyake, S.2
Yamamura, T.3
Brenner, M.B.4
-
31
-
-
84886943851
-
Exploiting invariant NKT cells to promote T-cell responses to cancer vaccines
-
Hunn MK, Hermans IF (2013) Exploiting invariant NKT cells to promote T-cell responses to cancer vaccines. Oncoimmunology 2:e23789. doi:10.4161/onci.23789
-
(2013)
Oncoimmunology
, vol.2
-
-
Hunn, M.K.1
Hermans, I.F.2
-
32
-
-
5444262511
-
Toll-like receptor control of the adaptive immune responses
-
Iwasaki A, Medzhitov R (2004) Toll-like receptor control of the adaptive immune responses. Nat Immunol 5:987–995. doi:10.1038/ni1112
-
(2004)
Nat Immunol
, vol.5
, pp. 987-995
-
-
Iwasaki, A.1
Medzhitov, R.2
-
33
-
-
33646516647
-
Gangliosides trigger inflammatory responses via TLR4 in brain glia
-
Jou I, Lee JH, Park SY et al (2006) Gangliosides trigger inflammatory responses via TLR4 in brain glia. Am J Pathol 168:1619–1630. doi:10.2353/ajpath.2006.050924
-
(2006)
Am J Pathol
, vol.168
, pp. 1619-1630
-
-
Jou, I.1
Lee, J.H.2
Park, S.Y.3
-
34
-
-
84866068909
-
Agalsidase alfa: A review of its use in the management of Fabry disease
-
Keating GM (2012) Agalsidase alfa: a review of its use in the management of Fabry disease. BioDrugs 26:335–354. doi:10.2165/11209690-000000000-00000
-
(2012)
Biodrugs
, vol.26
, pp. 335-354
-
-
Keating, G.M.1
-
35
-
-
84866561039
-
Direct engagement of TLR4 in invariant NKT cells regulates immune diseases by differential IL-4 and IFN-g production in mice
-
Kim JH, Kim HS, Kim HY et al (2012) Direct engagement of TLR4 in invariant NKT cells regulates immune diseases by differential IL-4 and IFN-g production in mice. PLoS One 7:e45348. doi:10.1371/journal.pone.0045348
-
(2012)
Plos One
, vol.7
-
-
Kim, J.H.1
Kim, H.S.2
Kim, H.Y.3
-
36
-
-
0013192938
-
A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease
-
Lee K, Jin X, Zhang K et al (2003) A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 13:305–313. doi:10.1093/glycob/cwg034
-
(2003)
Glycobiology
, vol.13
, pp. 305-313
-
-
Lee, K.1
Jin, X.2
Zhang, K.3
-
37
-
-
85047697574
-
A novel conditional Akt “survival switch” reversibly protects cells from apoptosis
-
Li B, Desai SA, MacCorkle-Chosnek RA et al (2002) A novel conditional Akt “survival switch” reversibly protects cells from apoptosis. Gene Ther 9:233–244. doi:10.1038/sj.gt.3301641
-
(2002)
Gene Ther
, vol.9
, pp. 233-244
-
-
Li, B.1
Desai, S.A.2
Maccorkle-Chosnek, R.A.3
-
38
-
-
78649634506
-
Effects of enzyme replacement therapy in Fabry disease–a comprehensive review of the medical literature
-
Lidove O, West ML, Pintos-Morell G et al (2010) Effects of enzyme replacement therapy in Fabry disease–a comprehensive review of the medical literature. Genet Med 12:668–679. doi:10.1097/GIM.0b013e3181f13b75
-
(2010)
Genet Med
, vol.12
, pp. 668-679
-
-
Lidove, O.1
West, M.L.2
Pintos-Morell, G.3
-
39
-
-
84877852047
-
Dysregulated autophagy contributes to podocyte damage in Fabry’s disease
-
Liebau MC, Braun F, Höpker K et al (2013) Dysregulated autophagy contributes to podocyte damage in Fabry’s disease. PLoS One 8: e63506. doi:10.1371/journal.pone.0063506
-
(2013)
Plos One
, vol.8
-
-
Liebau, M.C.1
Braun, F.2
Höpker, K.3
-
40
-
-
4644316602
-
Enzyme therapy for Fabry disease: Neutralizing antibodies toward agalsidase alpha and beta
-
Linthorst GE, Hollak CEM, Donker-Koopman WE et al (2004) Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 66:1589–1595. doi:10.1111/j.1523-1755.2004.00924.x
-
(2004)
Kidney Int
, vol.66
, pp. 1589-1595
-
-
Linthorst, G.E.1
Hollak, C.E.M.2
Donker-Koopman, W.E.3
-
41
-
-
77951546978
-
Screening for Fabry disease in high-risk populations: A systematic review
-
Linthorst GE, Bouwman MG, Wijburg FA et al (2010) Screening for Fabry disease in high-risk populations: a systematic review. J Med Genet 47:217–222. doi:10.1136/jmg.2009.072116
-
(2010)
J Med Genet
, vol.47
, pp. 217-222
-
-
Linthorst, G.E.1
Bouwman, M.G.2
Wijburg, F.A.3
-
42
-
-
84884664020
-
Functional character-isation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease
-
Lukas J, Giese A-K, Markoff A et al (2013) Functional character-isation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. PLoS Genet 9:e1003632. doi:10.1371/journal.pgen.1003632
-
(2013)
Plos Genet
, vol.9
-
-
Lukas, J.1
Giese, A.-K.2
Markoff, A.3
-
43
-
-
0027473752
-
Recombinant factor VIII for the treatment of previously untreated patients with hemophilia A. Safety, efficacy, and development of inhibitors. Kogenate Previously Untreated Patient Study Group
-
Lusher JM, Arkin S, Abildgaard CF, Schwartz RS (1993) Recombinant factor VIII for the treatment of previously untreated patients with hemophilia A. Safety, efficacy, and development of inhibitors. Kogenate Previously Untreated Patient Study Group. N Engl J Med 328:453–459. doi:10.1056/NEJM199302183280701
-
(1993)
N Engl J Med
, vol.328
, pp. 453-459
-
-
Lusher, J.M.1
Arkin, S.2
Abildgaard, C.F.3
Schwartz, R.S.4
-
44
-
-
84901303677
-
TLR4 activation promotes podocyte injury and interstitial fibrosis in diabetic nephropathy
-
Ma J, Chadban SJ, Zhao CY et al (2014) TLR4 activation promotes podocyte injury and interstitial fibrosis in diabetic nephropathy. PLoS One 9:e97985. doi:10.1371/journal.pone.0097985
-
(2014)
Plos One
, vol.9
-
-
Ma, J.1
Chadban, S.J.2
Zhao, C.Y.3
-
45
-
-
0034766525
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
-
MacDermot KD, Holmes A, Miners AH (2001a) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38:750–760
-
(2001)
J Med Genet
, vol.38
, pp. 750-760
-
-
Macdermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
46
-
-
0034754467
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
-
MacDermot KD, Holmes A, Miners AH (2001b) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38:769–775
-
(2001)
J Med Genet
, vol.38
, pp. 769-775
-
-
Macdermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
47
-
-
84860197221
-
Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model
-
Macedo MF, Quinta R, Pereira CS, Sa Miranda MC (2012) Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model. Mol Genet Metab 106:83–91. doi:10.1016/j.ymgme.2012.02.014
-
(2012)
Mol Genet Metab
, vol.106
, pp. 83-91
-
-
Macedo, M.F.1
Quinta, R.2
Pereira, C.S.3
Sa Miranda, M.C.4
-
48
-
-
77955878746
-
Fabry disease: A review of current management strategies
-
Mehta A, Beck M, Eyskens F et al (2010) Fabry disease: a review of current management strategies. QJM 103:641–659. doi:10.1093/qjmed/hcq117
-
(2010)
QJM
, vol.103
, pp. 641-659
-
-
Mehta, A.1
Beck, M.2
Eyskens, F.3
-
50
-
-
12444319931
-
Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype
-
Nakao S, Kodama C, Takenaka T et al (2003) Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype. Kidney Int 64:801–807. doi:10.1046/j.1523-1755.2003.00160.x
-
(2003)
Kidney Int
, vol.64
, pp. 801-807
-
-
Nakao, S.1
Kodama, C.2
Takenaka, T.3
-
51
-
-
84860425284
-
Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease
-
Namdar M, Gebhard C, Studiger R et al (2012) Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease. PLoS One 7:e36373. doi:10.1371/journal.pone.0036373
-
(2012)
Plos One
, vol.7
-
-
Namdar, M.1
Gebhard, C.2
Studiger, R.3
-
52
-
-
83155164561
-
Distinct and overlapping effector functions of expanded human CD4+, CD8∝ + and CD4-CD8∝-invariant natural killer T cells
-
O’Reilly V, Zeng SG, Bricard G et al (2011) Distinct and overlapping effector functions of expanded human CD4+, CD8∝ + and CD4-CD8∝-invariant natural killer T cells. PLoS One 6:e28648. doi:10.1371/journal.pone.0028648
-
(2011)
Plos One
, vol.6
-
-
O’Reilly, V.1
Zeng, S.G.2
Bricard, G.3
-
53
-
-
44649172457
-
Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease
-
Ohashi T, Iizuka S, Ida H, Eto Y (2008) Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease. Mol Genet Metab 94:313–318. doi:10.1016/j. ymgme.2008.03.008
-
(2008)
Mol Genet Metab
, vol.94
, pp. 313-318
-
-
Ohashi, T.1
Iizuka, S.2
Ida, H.3
Eto, Y.4
-
54
-
-
84875518070
-
Role for lysosomal phospholipase A2 in iNKT cell-mediated CD1d recognition
-
Paduraru C, Bezbradica JS, Kunte A et al (2013) Role for lysosomal phospholipase A2 in iNKT cell-mediated CD1d recognition. Proc Natl Acad Sci U S A 110:5097–5102. doi:10.1073/pnas.1302923110
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 5097-5102
-
-
Paduraru, C.1
Bezbradica, J.S.2
Kunte, A.3
-
55
-
-
84875249971
-
Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease
-
Pereira CS, Azevedo O, Maia ML et al (2013) Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease. Mol Genet Metab 108:241–248. doi:10.1016/j. ymgme.2013.01.018
-
(2013)
Mol Genet Metab
, vol.108
, pp. 241-248
-
-
Pereira, C.S.1
Azevedo, O.2
Maia, M.L.3
-
56
-
-
80052886588
-
Receptor-mediated endocytosis of alpha-galactosidase A in human podocytes in Fabry disease
-
Prabakaran T, Nielsen R, Larsen JV et al (2011) Receptor-mediated endocytosis of alpha-galactosidase A in human podocytes in Fabry disease. PLoS One. doi:10.1371/journal.pone.0025065
-
(2011)
Plos One
-
-
Prabakaran, T.1
Nielsen, R.2
Larsen, J.V.3
-
57
-
-
48249127629
-
From fibrosis to sclerosis: Mechanisms of glomerulosclerosis in diabetic nephropathy
-
Qian Y, Feldman E, Pennathur S et al (2008) From fibrosis to sclerosis: mechanisms of glomerulosclerosis in diabetic nephropathy. Diabetes 57:1439–1445. doi:10.2337/db08-0061
-
(2008)
Diabetes
, vol.57
, pp. 1439-1445
-
-
Qian, Y.1
Feldman, E.2
Pennathur, S.3
-
58
-
-
84859616858
-
Fabry disease in children and response to enzyme replacement therapy: Results from the Fabry Outcome Survey
-
Ramaswami U, Parini R, Pintos-Morell G et al (2012) Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey. Clin Genet 81:485–490. doi:10.1111/j.1399-0004.2011.01671.x
-
(2012)
Clin Genet
, vol.81
, pp. 485-490
-
-
Ramaswami, U.1
Parini, R.2
Pintos-Morell, G.3
-
59
-
-
27844440793
-
Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study
-
Rolfs A, Böttcher T, Zschiesche M et al (2005) Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366:1794–1796. doi:10.1016/S0140-6736(05)67635-0
-
(2005)
Lancet
, vol.366
, pp. 1794-1796
-
-
Rolfs, A.1
Böttcher, T.2
Zschiesche, M.3
-
60
-
-
77954959657
-
Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease
-
Rombach SM, Dekker N, Bouwman MG et al (2010a) Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta 1802:741–748. doi:10.1016/j.bbadis.2010.05.003
-
(2010)
Biochim Biophys Acta
, vol.1802
, pp. 741-748
-
-
Rombach, S.M.1
Dekker, N.2
Bouwman, M.G.3
-
61
-
-
73749088671
-
Vasculopathy in patients with Fabry disease: Current controversies and research directions
-
Rombach SM, Twickler TB, Aerts JMFG et al (2010b) Vasculopathy in patients with Fabry disease: current controversies and research directions. Mol Genet Metab 99:99–108. doi:10.1016/j. ymgme.2009.10.004
-
(2010)
Mol Genet Metab
, vol.99
, pp. 99-108
-
-
Rombach, S.M.1
Twickler, T.B.2
Aerts, J.M.F.G.3
-
62
-
-
84867668582
-
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (Lyso)Gb3 reduction and treatment outcome
-
Rombach SM, Aerts JMFG, Poorthuis BJHM et al (2012) Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. PLoS One 7:e47805. doi:10.1371/journal. pone.0047805
-
(2012)
Plos One
, vol.7
-
-
Rombach, S.M.1
Aerts, J.M.F.G.2
Poorthuis, B.J.H.M.3
-
63
-
-
84875345645
-
Long term enzyme replacement therapy for Fabry disease: Effectiveness on kidney, heart and brain
-
Rombach SM, Smid BE, Bouwman MG et al (2013) Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain. Orphanet J Rare Dis 8:47. doi:10.1186/1750-1172-8-47
-
(2013)
Orphanet J Rare Dis
, vol.8
, pp. 47
-
-
Rombach, S.M.1
Smid, B.E.2
Bouwman, M.G.3
-
64
-
-
84904156358
-
Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: A systematic review and meta-analysis: Effectiveness of ERT in different disease stages
-
Rombach SM, Smid BE, Linthorst GE et al (2014) Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages. J Inherit Metab Dis. doi:10.1007/s10545-014-9677-8
-
(2014)
J Inherit Metab Dis
-
-
Rombach, S.M.1
Smid, B.E.2
Linthorst, G.E.3
-
65
-
-
84880992758
-
Leukocyte perturbation associated with Fabry disease
-
Rozenfeld P, Agriello E, De Francesco N et al (2009) Leukocyte perturbation associated with Fabry disease. J Inherit Metab Dis 32(Suppl 1):S67–S77. doi:10.1007/s10545-009-1060-9
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. S67-S77
-
-
Rozenfeld, P.1
Agriello, E.2
de Francesco, N.3
-
66
-
-
79958165587
-
Globotriaosylsphingosine actions on human glomerular podocytes: Implications for Fabry nephropathy
-
Sanchez-Niño MD, Sanz AB, Carrasco S et al (2011) Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol Dial Transplant 26:1797–1802. doi:10.1093/ndt/gfq306
-
(2011)
Nephrol Dial Transplant
, vol.26
, pp. 1797-1802
-
-
Sanchez-Niño, M.D.1
Sanz, A.B.2
Carrasco, S.3
-
67
-
-
41449087436
-
The immunogenicity of therapeutic proteins and the Fabry antibody standardization initiative
-
Suppl B
-
Schellekens H (2008) The immunogenicity of therapeutic proteins and the Fabry antibody standardization initiative. Clin Ther 30(Suppl B):S50–S51
-
(2008)
Clin Ther
, vol.30
, pp. S50-S51
-
-
Schellekens, H.1
-
68
-
-
12944265457
-
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
-
Schiffmann R, Murray GJ, Treco D et al (2000) Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A 97:365–370
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 365-370
-
-
Schiffmann, R.1
Murray, G.J.2
Treco, D.3
-
69
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA 3rd et al (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. J Am Med Assoc 285:2743–2749
-
(2001)
J am Med Assoc
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin, H.A.3
-
70
-
-
0344443401
-
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease
-
Schiffmann R, Floeter MK, Dambrosia JM et al (2003) Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 28:703–710. doi:10.1002/mus.10497
-
(2003)
Muscle Nerve
, vol.28
, pp. 703-710
-
-
Schiffmann, R.1
Floeter, M.K.2
Dambrosia, J.M.3
-
71
-
-
31544456336
-
Long-term therapy with agalsidase alfa for Fabry disease: Safety and effects on renal function in a home infusion setting
-
Schiffmann R, Ries M, Timmons M et al (2006) Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21:345–354. doi:10.1093/ndt/gfi152
-
(2006)
Nephrol Dial Transplant
, vol.21
, pp. 345-354
-
-
Schiffmann, R.1
Ries, M.2
Timmons, M.3
-
73
-
-
35948958955
-
TLR4 enhances TGF-beta signaling and hepatic fibrosis
-
Seki E, De Minicis S, Osterreicher CH et al (2007) TLR4 enhances TGF-beta signaling and hepatic fibrosis. Nat Med 13:1324–1332. doi:10.1038/nm1663
-
(2007)
Nat Med
, vol.13
, pp. 1324-1332
-
-
Seki, E.1
de Minicis, S.2
Osterreicher, C.H.3
-
74
-
-
53749095321
-
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
-
Shen J-S, Meng X-L, Moore DF et al (2008) Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 95:163–168. doi:10.1016/j.ymgme.2008.06.016
-
(2008)
Mol Genet Metab
, vol.95
, pp. 163-168
-
-
Shen, J.-S.1
Meng, X.-L.2
Moore, D.F.3
-
75
-
-
84903753254
-
Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease
-
Shu L, Vivekanandan-Giri A, Pennathur S et al (2014) Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease. Kidney Int. doi:10.1038/ki.2013.520
-
(2014)
Kidney Int
-
-
Shu, L.1
Vivekanandan-Giri, A.2
Pennathur, S.3
-
76
-
-
84897573302
-
Outcomes of patients treated through the Canadian Fabry disease initiative
-
Sirrs SM, Bichet DG, Casey R et al (2014) Outcomes of patients treated through the Canadian Fabry disease initiative. Mol Genet Metab 111:499–506. doi:10.1016/j.ymgme.2014.01.014
-
(2014)
Mol Genet Metab
, vol.111
, pp. 499-506
-
-
Sirrs, S.M.1
Bichet, D.G.2
Casey, R.3
-
77
-
-
84872974634
-
A revised home treatment algorithm for Fabry disease: Influence of antibody formation
-
Smid BE, Hoogendijk SL, Wijburg FA et al (2013) A revised home treatment algorithm for Fabry disease: influence of antibody formation. Mol Genet Metab 108:132–137. doi:10.1016/j. ymgme.2012.12.005
-
(2013)
Mol Genet Metab
, vol.108
, pp. 132-137
-
-
Smid, B.E.1
Hoogendijk, S.L.2
Wijburg, F.A.3
-
78
-
-
0032547823
-
CD1d-restricted recognition of synthetic glycolipid antigens by human natural killer T cells
-
Spada FM, Koezuka Y, Porcelli SA (1998) CD1d-restricted recognition of synthetic glycolipid antigens by human natural killer T cells. J Exp Med 188:1529–1534
-
(1998)
J Exp Med
, vol.188
, pp. 1529-1534
-
-
Spada, F.M.1
Koezuka, Y.2
Porcelli, S.A.3
-
79
-
-
33745280137
-
High incidence of later-onset fabry disease revealed by newborn screening
-
Spada M, Pagliardini S, Yasuda M et al (2006) High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 79:31–40. doi:10.1086/504601
-
(2006)
Am J Hum Genet
, vol.79
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
-
80
-
-
1042278901
-
New insights into pathways for CD1-mediated antigen presentation
-
Sugita M, Cernadas M, Brenner MB (2004) New insights into pathways for CD1-mediated antigen presentation. Curr Opin Immunol 16:90–95
-
(2004)
Curr Opin Immunol
, vol.16
, pp. 90-95
-
-
Sugita, M.1
Cernadas, M.2
Brenner, M.B.3
-
81
-
-
84897926358
-
Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha
-
Tanaka A, Takeda T, Hoshina T et al (2010) Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha. J Inherit Metab Dis 33(Suppl 3):S249–S252. doi:10.1007/s10545-010-9136-0
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. S249-S252
-
-
Tanaka, A.1
Takeda, T.2
Hoshina, T.3
-
82
-
-
84899718423
-
Darapladib for preventing ischemic events in stable coronary heart disease
-
The STABILITY Investigators (2014) Darapladib for preventing ischemic events in stable coronary heart disease. N Engl J Med. doi:10.1056/NEJMoa1315878
-
(2014)
N Engl J Med
-
-
-
83
-
-
59149106521
-
Downregulation of alpha-galactosidase A upregulates CD77: Functional impact for Fabry nephropathy
-
Thomaidis T, Relle M, Golbas M et al (2009) Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy. Kidney Int 75:399–407. doi:10.1038/ki.2008.576
-
(2009)
Kidney Int
, vol.75
, pp. 399-407
-
-
Thomaidis, T.1
Relle, M.2
Golbas, M.3
-
84
-
-
84887284850
-
Difficulties and barriers in diagnosing Fabry disease: What can be learnt from the literature?
-
Thomas AS, Mehta AB (2013) Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature? Expert Opin Med Diagn 7:589–599. doi:10.1517/17530059.2013.846322
-
(2013)
Expert Opin Med Diagn
, vol.7
, pp. 589-599
-
-
Thomas, A.S.1
Mehta, A.B.2
-
85
-
-
84871906107
-
Agalsidase benefits renal histology in young patients with Fabry disease
-
Tondel C, Bostad L, Larsen KK (2013) Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 24(1):137–148. doi:10.1681/ASN.2012030316
-
(2013)
J am Soc Nephrol
, vol.24
, Issue.1
, pp. 137-148
-
-
Tondel, C.1
Bostad, L.2
Larsen, K.K.3
-
86
-
-
33846447796
-
The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels
-
Vedder AC, Linthorst GE, van Breemen MJ et al (2007) The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis 30:68–78. doi:10.1007/s10545-006-0484-8
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 68-78
-
-
Vedder, A.C.1
Linthorst, G.E.2
van Breemen, M.J.3
-
87
-
-
44949248124
-
Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3
-
Vedder AC, Breunig F, Donker-Koopman WE et al (2008) Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab 94:319–325. doi:10.1016/j.ymgme.2008.03.003
-
(2008)
Mol Genet Metab
, vol.94
, pp. 319-325
-
-
Vedder, A.C.1
Breunig, F.2
Donker-Koopman, W.E.3
-
88
-
-
73849102063
-
Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry
-
Waldek S, Patel MR, Banikazemi M et al (2009) Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med 11:790–796. doi:10.1097/GIM.0b013e3181bb05bb
-
(2009)
Genet Med
, vol.11
, pp. 790-796
-
-
Waldek, S.1
Patel, M.R.2
Banikazemi, M.3
-
89
-
-
33846265851
-
Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life
-
Wang RY, Lelis A, Mirocha J, Wilcox WR (2007) Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 9:34–45
-
(2007)
Genet Med
, vol.9
, pp. 34-45
-
-
Wang, R.Y.1
Lelis, A.2
Mirocha, J.3
Wilcox, W.R.4
-
90
-
-
38849146956
-
ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones
-
Wei H, Kim S-J, Zhang Z et al (2008) ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones. Hum Mol Genet 17:469–477. doi:10.1093/hmg/ddm324
-
(2008)
Hum Mol Genet
, vol.17
, pp. 469-477
-
-
Wei, H.1
Kim, S.-J.2
Zhang, Z.3
-
91
-
-
84883742110
-
Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: Evidence for disease progression towards serious complications
-
Weidemann F, Niemann M, Störk S et al (2013) Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med 274:331–341. doi:10.1111/joim.12077
-
(2013)
J Intern Med
, vol.274
, pp. 331-341
-
-
Weidemann, F.1
Niemann, M.2
Störk, S.3
-
92
-
-
65649096032
-
Agalsidase alfa and kidney dysfunction in Fabry disease
-
West M, Nicholls K, Mehta A et al (2009) Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 20:1132–1139. doi:10.1681/ASN.2008080870
-
(2009)
J am Soc Nephrol
, vol.20
, pp. 1132-1139
-
-
West, M.1
Nicholls, K.2
Mehta, A.3
-
93
-
-
3142554529
-
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
-
Wilcox WR, Banikazemi M, Guffon N et al (2004) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75:65–74
-
(2004)
Am J Hum Genet
, vol.75
, pp. 65-74
-
-
Wilcox, W.R.1
Banikazemi, M.2
Guffon, N.3
-
94
-
-
84858281049
-
Anti-∝-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry
-
Wilcox WR, Linthorst GE, Germain DP et al (2012) Anti-∝-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. Mol Genet Metab 105:443–449. doi:10.1016/j.ymgme.2011.12.006
-
(2012)
Mol Genet Metab
, vol.105
, pp. 443-449
-
-
Wilcox, W.R.1
Linthorst, G.E.2
Germain, D.P.3
-
95
-
-
42949153396
-
Biochemical and genetic diagnosis of Fabry disease
-
Mehta A, Beck M, Sunder-Plassmann G, Oxford PharmaGenesis, Oxford
-
Winchester B, Young E (2006) Biochemical and genetic diagnosis of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G (eds) Source Fabry disease: perspectives from 5 years of FOS. Oxford PharmaGenesis, Oxford
-
(2006)
Source Fabry Disease: Perspectives from 5 Years of FOS
-
-
Winchester, B.1
Young, E.2
|