-
1
-
-
0014216741
-
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency
-
Brady R.O., Gal A.E., Bradley R.M., Martensson E., Warshaw A.L., Laster L. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J. Med. 1967, 276:1163-1167.
-
(1967)
N Engl J. Med.
, vol.276
, pp. 1163-1167
-
-
Brady, R.O.1
Gal, A.E.2
Bradley, R.M.3
Martensson, E.4
Warshaw, A.L.5
Laster, L.6
-
2
-
-
0000889058
-
α-Galactosidase A deficiency: Fabry disease
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
-
Desnick R.J., Ioannou Y.A., Eng C.M. α-Galactosidase A deficiency: Fabry disease. The metabolic and molecular bases of inherited disease 2001, 3733-3774. McGraw-Hill, New York. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
3
-
-
0035157764
-
Natural history of Fabry disease in affected males and obligate carrier females
-
MacDermot K.D., Holmes A., Miners A.H. Natural history of Fabry disease in affected males and obligate carrier females. J. Inherit. Metab. Dis. 2001, 24(Suppl 2):13-14.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, Issue.SUPPL. 2
, pp. 13-14
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
4
-
-
33846447796
-
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels
-
Vedder A.C., Linthorst G.E., van Breemen M.J., Groener J.E., Bemelman F.J., Strijland A., Mannens M.M., Aerts J.M., Hollak C.E. The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J. Inherit. Metab. Dis. 2007, 30:68-78.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 68-78
-
-
Vedder, A.C.1
Linthorst, G.E.2
van Breemen, M.J.3
Groener, J.E.4
Bemelman, F.J.5
Strijland, A.6
Mannens, M.M.7
Aerts, J.M.8
Hollak, C.E.9
-
5
-
-
0025049304
-
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy
-
Elleder M., Bradova V., Smid F., Budesinsky M., Harzer K., Kustermann-Kuhn B., Ledvinova J., Belohlavek M., Kral V., Dorazilova V. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch. A Pathol. Anat. Histopathol. 1990, 417:449-455.
-
(1990)
Virchows Arch. A Pathol. Anat. Histopathol.
, vol.417
, pp. 449-455
-
-
Elleder, M.1
Bradova, V.2
Smid, F.3
Budesinsky, M.4
Harzer, K.5
Kustermann-Kuhn, B.6
Ledvinova, J.7
Belohlavek, M.8
Kral, V.9
Dorazilova, V.10
-
6
-
-
12444319931
-
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype
-
Nakao S., Kodama C., Takenaka T., Tanaka A., Yasumoto Y., Yoshida A., Kanzaki T., Enriquez A.L., Eng C.M., Tanaka H., Tei C., Desnick R.J. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003, 64:801-807.
-
(2003)
Kidney Int.
, vol.64
, pp. 801-807
-
-
Nakao, S.1
Kodama, C.2
Takenaka, T.3
Tanaka, A.4
Yasumoto, Y.5
Yoshida, A.6
Kanzaki, T.7
Enriquez, A.L.8
Eng, C.M.9
Tanaka, H.10
Tei, C.11
Desnick, R.J.12
-
7
-
-
12144287518
-
Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
-
Mehta A., Ricci R., Widmer U., Dehout F., Garcia de Lorenzo A., Kampmann C., Linhart A., Sunder-Plassmann G., Ries M., Beck M. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur. J. Clin. Invest. 2004, 34:236-242.
-
(2004)
Eur. J. Clin. Invest.
, vol.34
, pp. 236-242
-
-
Mehta, A.1
Ricci, R.2
Widmer, U.3
Dehout, F.4
Garcia de Lorenzo, A.5
Kampmann, C.6
Linhart, A.7
Sunder-Plassmann, G.8
Ries, M.9
Beck, M.10
-
8
-
-
33947687663
-
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
-
Eng C.M., Fletcher J., Wilcox W.R., Waldek S., Scott C.R., Sillence D.O., Breunig F., Charrow J., Germain D.P., Nicholls K., Banikazemi M. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J. Inherit. Metab. Dis. 2007, 30:184-192.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 184-192
-
-
Eng, C.M.1
Fletcher, J.2
Wilcox, W.R.3
Waldek, S.4
Scott, C.R.5
Sillence, D.O.6
Breunig, F.7
Charrow, J.8
Germain, D.P.9
Nicholls, K.10
Banikazemi, M.11
-
10
-
-
77950200613
-
Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information
-
Saito S., Ohno K., Sese J., Sugawara K., Sakuraba H. Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information. J. Hum. Genet. 2010, 55:175-178.
-
(2010)
J. Hum. Genet.
, vol.55
, pp. 175-178
-
-
Saito, S.1
Ohno, K.2
Sese, J.3
Sugawara, K.4
Sakuraba, H.5
-
11
-
-
77952062043
-
Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity
-
Wu J.C., Ho C.Y., Skali H., Abichandani R., Wilcox W.R., Banikazemi M., Packman S., Sims K., Solomon S.D. Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. Eur. Heart J. 2010, 31:1088-1097.
-
(2010)
Eur. Heart J.
, vol.31
, pp. 1088-1097
-
-
Wu, J.C.1
Ho, C.Y.2
Skali, H.3
Abichandani, R.4
Wilcox, W.R.5
Banikazemi, M.6
Packman, S.7
Sims, K.8
Solomon, S.D.9
-
12
-
-
0036122659
-
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course
-
Branton M.H., Schiffmann R., Sabnis S.G., Murray G.J., Quirk J.M., Altarescu G., Goldfarb L., Brady R.O., Balow J.E., Austin H.A., Kopp J.B. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002, 81:122-138.
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 122-138
-
-
Branton, M.H.1
Schiffmann, R.2
Sabnis, S.G.3
Murray, G.J.4
Quirk, J.M.5
Altarescu, G.6
Goldfarb, L.7
Brady, R.O.8
Balow, J.E.9
Austin, H.A.10
Kopp, J.B.11
-
13
-
-
0017359682
-
Characterization of alpha-galactosidase isoenzymes in normal and Fabry human-Chinese Hamster somatic cell hybrids
-
Hamers M.N., Westerveld A., Khan M., Tager J.M. Characterization of alpha-galactosidase isoenzymes in normal and Fabry human-Chinese Hamster somatic cell hybrids. Hum. Genet. 1977, 36:289-297.
-
(1977)
Hum. Genet.
, vol.36
, pp. 289-297
-
-
Hamers, M.N.1
Westerveld, A.2
Khan, M.3
Tager, J.M.4
-
14
-
-
71849085606
-
Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease
-
Tajima Y., Kawashima I., Tsukimura T., Sugawara K., Kuroda M., Suzuki T., Togawa T., Chiba Y., Jigami Y., Ohno K., Fukushige T., Kanekura T., Itoh K., Ohashi T., Sakuraba H. Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease. Am. J. Hum. Genet. 2009, 85:569-580.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 569-580
-
-
Tajima, Y.1
Kawashima, I.2
Tsukimura, T.3
Sugawara, K.4
Kuroda, M.5
Suzuki, T.6
Togawa, T.7
Chiba, Y.8
Jigami, Y.9
Ohno, K.10
Fukushige, T.11
Kanekura, T.12
Itoh, K.13
Ohashi, T.14
Sakuraba, H.15
-
15
-
-
21144431735
-
Effect of genetic modifiers on cerebral lesions in Fabry disease
-
Altarescu G., Moore D.F., Schiffmann R. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 2005, 64:2148-2150.
-
(2005)
Neurology
, vol.64
, pp. 2148-2150
-
-
Altarescu, G.1
Moore, D.F.2
Schiffmann, R.3
-
16
-
-
84855601509
-
Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease
-
Oct 22 [Epub ahead of print]
-
Rohard I., Schaefer E., Kampmann C., Beck M., Gal A. Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease. J. Inherit. Metab. Dis. 2008, Oct 22 [Epub ahead of print]. 10.1007/s10545-008-0920-z.
-
(2008)
J. Inherit. Metab. Dis.
-
-
Rohard, I.1
Schaefer, E.2
Kampmann, C.3
Beck, M.4
Gal, A.5
-
17
-
-
0000889058
-
α-Galactosidase A deficiency: Fabry disease
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
-
Desnick R.J., Ioannou Y.A., Eng C.M. α-Galactosidase A deficiency: Fabry disease. The metabolic and molecular bases of inherited disease 1996, 2741-2784. McGraw-Hill, New York. 6th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
-
(1996)
The metabolic and molecular bases of inherited disease
, pp. 2741-2784
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
18
-
-
0001089467
-
Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid
-
Sweeley C.C., Klionsky B. Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J. Biol. Chem. 1963, 238:3148-3150.
-
(1963)
J. Biol. Chem.
, vol.238
, pp. 3148-3150
-
-
Sweeley, C.C.1
Klionsky, B.2
-
19
-
-
73749088671
-
Vasculopathy in patients with Fabry disease: current controversies and research directions
-
Rombach S.M., Twickler T.B., Aerts J.M., Linthorst G.E., Wijburg F.A., Hollak C.E. Vasculopathy in patients with Fabry disease: current controversies and research directions. Mol. Genet. Metab. 2010, 99:99-108.
-
(2010)
Mol. Genet. Metab.
, vol.99
, pp. 99-108
-
-
Rombach, S.M.1
Twickler, T.B.2
Aerts, J.M.3
Linthorst, G.E.4
Wijburg, F.A.5
Hollak, C.E.6
-
20
-
-
5444252085
-
Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease
-
Mills K., Vellodi A., Morris P., Cooper D., Morris M., Young E., Winchester B. Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. Eur. J. Pediatr. 2004, 163:595-603.
-
(2004)
Eur. J. Pediatr.
, vol.163
, pp. 595-603
-
-
Mills, K.1
Vellodi, A.2
Morris, P.3
Cooper, D.4
Morris, M.5
Young, E.6
Winchester, B.7
-
21
-
-
20444373723
-
Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard
-
Fauler G., Rechberger G.N., Devrnja D., Erwa W., Plecko B., Kotanko P., Breunig F., Paschke E. Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard. Rapid Commun. Mass Spectrom. 2005, 19:1499-1506.
-
(2005)
Rapid Commun. Mass Spectrom.
, vol.19
, pp. 1499-1506
-
-
Fauler, G.1
Rechberger, G.N.2
Devrnja, D.3
Erwa, W.4
Plecko, B.5
Kotanko, P.6
Breunig, F.7
Paschke, E.8
-
22
-
-
16244379886
-
Urinary lipid profiling for the identification of Fabry hemizygotes and heterozygotes
-
Fuller M., Sharp P.C., Rozaklis T., Whitfield P.D., Blacklock D., Hopwood J.J., Meikle P.J. Urinary lipid profiling for the identification of Fabry hemizygotes and heterozygotes. Clin. Chem. 2005, 51:688-694.
-
(2005)
Clin. Chem.
, vol.51
, pp. 688-694
-
-
Fuller, M.1
Sharp, P.C.2
Rozaklis, T.3
Whitfield, P.D.4
Blacklock, D.5
Hopwood, J.J.6
Meikle, P.J.7
-
23
-
-
33847796285
-
Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease
-
Auray-Blais C., Cyr D., Mills K., Giguère R., Drouin R. Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J. Inherit. Metab. Dis. 2007, 30:106.
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, pp. 106
-
-
Auray-Blais, C.1
Cyr, D.2
Mills, K.3
Giguère, R.4
Drouin, R.5
-
24
-
-
34147204029
-
HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma
-
Groener J.E., Poorthuis B.J., Kuiper S., Helmond M.T., Hollak C.E., Aerts J.M. HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma. Clin. Chem. 2007, 53:742-747.
-
(2007)
Clin. Chem.
, vol.53
, pp. 742-747
-
-
Groener, J.E.1
Poorthuis, B.J.2
Kuiper, S.3
Helmond, M.T.4
Hollak, C.E.5
Aerts, J.M.6
-
25
-
-
20844448872
-
Monitoring enzyme replacement therapy in Fabry disease-role of urine globotriaosylceramide
-
Whitfield P.D., Calvin J., Hogg S., O'Driscoll E., Halsall D., Burling K., Maguire G., Wright N., Cox T.M., Meikle P.J., Deegan P.B. 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
Maguire, G.7
Wright, N.8
Cox, T.M.9
Meikle, P.J.10
Deegan, P.B.11
-
26
-
-
16844377475
-
Is globotriaosylceramide a useful biomarker in Fabry disease?
-
Young E., Mills K., Morris P., Vellodi A., Lee P., Waldek S., Winchester B. Is globotriaosylceramide a useful biomarker in Fabry disease?. Acta Paediatr. 2005, 447(Suppl 94):51-54.
-
(2005)
Acta Paediatr.
, vol.447
, Issue.SUPPL. 94
, pp. 51-54
-
-
Young, E.1
Mills, K.2
Morris, P.3
Vellodi, A.4
Lee, P.5
Waldek, S.6
Winchester, B.7
-
27
-
-
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, 4:289-297.
-
(2006)
Cardiovasc. Hematol. Agents Med. Chem.
, vol.4
, pp. 289-297
-
-
Bekri, S.1
Lidove, O.2
Jaussaud, R.3
Knebelmann, B.4
Barbey, F.5
-
28
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
Aerts J.M., Groener J.E., Kuiper S., Donker-Koopman W.E., Strijland A., Ottenhoff R., van Roomen C., Mirzaian M., Wijburg F.A., Linthorst G.E., Vedder A.C., Rombach S.M., Cox-Brinkman J., Somerharju P., Boot R.G., Hollak C.E., Brady R.O., Poorthuis B.J. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc. Natl Acad. Sci. U. S. A. 2008, 105:2812-2817.
-
(2008)
Proc. Natl Acad. Sci. U. S. A.
, vol.105
, 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
-
29
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease
-
Eng C.M., Guffon N., Wilcox W.R., Germain D.P., Lee P., Waldek S., Caplan L., Linthorst G.E., Desnick R.J. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J. Med. 2001, 345:9-16.
-
(2001)
N Engl J. Med.
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
Waldek, S.6
Caplan, L.7
Linthorst, G.E.8
Desnick, R.J.9
-
30
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: a randomized controlled trial
-
Schiffmann R., Kopp J.B., Austin H.A., Sabnis S., Moore D.F., Weibel T., Balow J.E., Brady R.O. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001, 285:2743-2749.
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin, H.A.3
Sabnis, S.4
Moore, D.F.5
Weibel, T.6
Balow, J.E.7
Brady, R.O.8
-
31
-
-
0037219559
-
Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha galactosidase A mRNA
-
Blom D., Speijer D., Linthorst G.E., Donker-Koopman W.G., Strijland A., Aerts J.M. Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha galactosidase A mRNA. Am. J. Hum. Genet. 2003, 72:23-31.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 23-31
-
-
Blom, D.1
Speijer, D.2
Linthorst, G.E.3
Donker-Koopman, W.G.4
Strijland, A.5
Aerts, J.M.6
-
32
-
-
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.E., Groener J.E., Aerts J.M., Maas M., Poll L.W., Wiersma M.G., Häussinger D., Brett S., Bril N., vom Dahl S. 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, 108:830-835.
-
(2006)
Blood
, vol.108
, pp. 830-835
-
-
de Fost, M.1
Hollak, C.E.2
Groener, J.E.3
Aerts, J.M.4
Maas, M.5
Poll, L.W.6
Wiersma, M.G.7
Häussinger, D.8
Brett, S.9
Bril, N.10
vom Dahl, S.11
-
33
-
-
39549116083
-
Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2mg/kg
-
Vedder A.C., Linthorst G.E., Houge G., Groener J.E., Ormel E.E., Bouma B.J., Aerts J.M., Hirth A., Hollak C.E. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2mg/kg. PLoS ONE 2007, 2:e598.
-
(2007)
PLoS ONE
, vol.2
-
-
Vedder, A.C.1
Linthorst, G.E.2
Houge, G.3
Groener, J.E.4
Ormel, E.E.5
Bouma, B.J.6
Aerts, J.M.7
Hirth, A.8
Hollak, C.E.9
-
34
-
-
71649111830
-
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
-
Mehta A., Beck M., Elliott P., Giugliani R., Linhart A., Sunder-Plassmann G., Schiffmann R., Barbey F., Ries M., Clarke J.T., Fabry Outcome Survey investigators Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 2009, 374:1986-1996.
-
(2009)
Lancet
, vol.374
, pp. 1986-1996
-
-
Mehta, A.1
Beck, M.2
Elliott, P.3
Giugliani, R.4
Linhart, A.5
Sunder-Plassmann, G.6
Schiffmann, R.7
Barbey, F.8
Ries, M.9
Clarke, J.T.10
Fabry Outcome Survey investigators11
-
35
-
-
71649085292
-
Enzyme therapy for Fabry's disease: registered for success?
-
Knebelmann B., Kurschat C., Thadhani R. Enzyme therapy for Fabry's disease: registered for success?. Lancet 2009, 374:1950-1951.
-
(2009)
Lancet
, vol.374
, pp. 1950-1951
-
-
Knebelmann, B.1
Kurschat, C.2
Thadhani, R.3
-
36
-
-
4644316602
-
Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta
-
Linthorst G.E., Hollak C.E., Donker-Koopman W.E., Strijland A., Aerts J.M. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int. 2004, 66:1589-1595.
-
(2004)
Kidney Int.
, vol.66
, pp. 1589-1595
-
-
Linthorst, G.E.1
Hollak, C.E.2
Donker-Koopman, W.E.3
Strijland, A.4
Aerts, J.M.5
-
37
-
-
34848819423
-
Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy
-
Ohashi T., Sakuma M., Kitagawa T., Suzuki K., Ishige N., Eto Y. Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy. Mol. Genet. Metab. 2007, 92:271-273.
-
(2007)
Mol. Genet. Metab.
, vol.92
, pp. 271-273
-
-
Ohashi, T.1
Sakuma, M.2
Kitagawa, T.3
Suzuki, K.4
Ishige, N.5
Eto, Y.6
-
38
-
-
44949248124
-
Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3
-
Vedder A.C., Breunig F., Donker-Koopman W.E., Mills K., Young E., Winchester B., Ten Berge I.J., Groener J.E., Aerts J.M., Wanner C., Hollak C.E. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol. Genet. Metab. 2008, 94:319-325.
-
(2008)
Mol. Genet. Metab.
, vol.94
, pp. 319-325
-
-
Vedder, A.C.1
Breunig, F.2
Donker-Koopman, W.E.3
Mills, K.4
Young, E.5
Winchester, B.6
Ten Berge, I.J.7
Groener, J.E.8
Aerts, J.M.9
Wanner, C.10
Hollak, C.E.11
-
39
-
-
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., Norfleet A.M., O'Brien F. 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. 2009, 96:4-12.
-
(2009)
Mol. Genet. Metab.
, vol.96
, pp. 4-12
-
-
Bénichou, B.1
Goyal, S.2
Sung, C.3
Norfleet, A.M.4
O'Brien, F.5
-
40
-
-
57649139284
-
Immune response to enzyme replacement therapy in Fabry disease: impact on clinical outcome?
-
Hollak C.E., Linthorst G.E. Immune response to enzyme replacement therapy in Fabry disease: impact on clinical outcome?. Mol. Genet. Metab. 2009, 96:1-3.
-
(2009)
Mol. Genet. Metab.
, vol.96
, pp. 1-3
-
-
Hollak, C.E.1
Linthorst, G.E.2
-
41
-
-
77954959657
-
Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease
-
May 13 [Epub ahead of print]
-
Rombach S.M., Dekker N., Bouwman M.G., Linthorst G.E., Zwinderman A.H., Wijburg F.A., Kuiper S., Vd Bergh Weerman M.A., Groener J.E., Poorthuis B.J., Hollak C.E., Aerts J.M. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim. Biophys. Acta 2010, May 13 [Epub ahead of print]. 10.1016/j.bbadis.2010.05.003.
-
(2010)
Biochim. Biophys. Acta
-
-
Rombach, S.M.1
Dekker, N.2
Bouwman, M.G.3
Linthorst, G.E.4
Zwinderman, A.H.5
Wijburg, F.A.6
Kuiper, S.7
Vd Bergh Weerman, M.A.8
Groener, J.E.9
Poorthuis, B.J.10
Hollak, C.E.11
Aerts, J.M.12
-
42
-
-
0023216253
-
Globoid cell leukodystrophy is a generalized galactosylsphingosine (psychosine) storage disease
-
Kobayashi T., Shinoda H., Goto I., Yamanaka T., Suzuki Y. Globoid cell leukodystrophy is a generalized galactosylsphingosine (psychosine) storage disease. Biochem. Biophys. Res. Commun. 1987, 144:41-46.
-
(1987)
Biochem. Biophys. Res. Commun.
, vol.144
, pp. 41-46
-
-
Kobayashi, T.1
Shinoda, H.2
Goto, I.3
Yamanaka, T.4
Suzuki, Y.5
-
43
-
-
43549092043
-
The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: implication for Krabbe disease
-
Giri S., Khan M., Nath N., Singh I., Singh A.K. The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: implication for Krabbe disease. J. Neurochem. 2008, 105:1820-1833.
-
(2008)
J. Neurochem.
, vol.105
, pp. 1820-1833
-
-
Giri, S.1
Khan, M.2
Nath, N.3
Singh, I.4
Singh, A.K.5
-
44
-
-
66049163058
-
Psychosine accumulates in membrane microdomains in the brain of Krabbe patients, disrupting the raft architecture
-
White A.B., Givogri M.I., Lopez-Rosas A., Cao H., van Breemen R., Thinakaran G., Bongarzone E.R. Psychosine accumulates in membrane microdomains in the brain of Krabbe patients, disrupting the raft architecture. J. Neurosci. 2009, 29:6068-6077.
-
(2009)
J. Neurosci.
, vol.29
, pp. 6068-6077
-
-
White, A.B.1
Givogri, M.I.2
Lopez-Rosas, A.3
Cao, H.4
van Breemen, R.5
Thinakaran, G.6
Bongarzone, E.R.7
-
45
-
-
79958165587
-
Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy
-
May 26 [Epub ahead of print]
-
Sanchez-Niño M.D., Sanz A.B., Carrasco S., Saleem M.A., Mathieson P.W., Valdivielso J.M., Ruiz-Ortega M., Egido J., Ortiz A. Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol. Dial. Transplant. 2010, May 26 [Epub ahead of print]. 10.1093/ndt/gfq306.
-
(2010)
Nephrol. Dial. Transplant.
-
-
Sanchez-Niño, M.D.1
Sanz, A.B.2
Carrasco, S.3
Saleem, M.A.4
Mathieson, P.W.5
Valdivielso, J.M.6
Ruiz-Ortega, M.7
Egido, J.8
Ortiz, A.9
-
46
-
-
11144358101
-
The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy
-
Whybra C., Kampmann C., Krummenauer F., Ries M., Mengel E., Miebach E., et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin. Genet. 2004, 65(4):299-307.
-
(2004)
Clin. Genet.
, vol.65
, Issue.4
, pp. 299-307
-
-
Whybra, C.1
Kampmann, C.2
Krummenauer, F.3
Ries, M.4
Mengel, E.5
Miebach, E.6
|