-
1
-
-
0014216741
-
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency
-
Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L: Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 276: 1163-1167, 1967
-
(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
-
-
0034010398
-
Fabry disease in patients receiving maintenance dialysis
-
Utsumi K, Kase R, Takata T, Sakuraba H, Matsui N, Saito H, Nakumura T, Kawabe M, Iino Y, Katayama Y: Fabry disease in patients receiving maintenance dialysis. Clin Exp Nephrol 4: 49-51, 2000
-
(2000)
Clin Exp Nephrol
, vol.4
, pp. 49-51
-
-
Utsumi, K.1
Kase, R.2
Takata, T.3
Sakuraba, H.4
Matsui, N.5
Saito, H.6
Nakumura, T.7
Kawabe, M.8
Iino, Y.9
Katayama, Y.10
-
3
-
-
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 AL, Eng CM, Tanaka H, Tei C, Desnick RJ: Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 64: 801-807, 2003
-
(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
-
4
-
-
0041352960
-
Boeschoten EW: A-Galactosidase A deficiency in Dutch patients on dialysis: A critical appraisal of screening for Fabry disease
-
Linthorst GE, Hollak CE, Korevaar JC, Van Manen JG, Aerts JM, Boeschoten EW: a-Galactosidase A deficiency in Dutch patients on dialysis: A critical appraisal of screening for Fabry disease. Nephrol Dial Transplant 18: 1581-1584, 2003
-
(2003)
Nephrol Dial Transplant
, vol.18
, pp. 1581-1584
-
-
Linthorst, G.E.1
Hollak, C.E.2
Korevaar, J.C.3
van Manen, J.G.4
Aerts, J.M.5
-
5
-
-
11144355110
-
Results of a nationwide screening for Anderson-Fabry disease among dialysis patients
-
Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtländer T, Auinger M, Pagliardini S, Spada M, Demmelbauer K, Lorenz M, Hauser AC, Kofler HJ, Lhotta K, Neyer U, Pronai W, Wallner M, Wieser C, Wiesholzer M, Zodl H, Födinger M, Sunder-Plassmann G: Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 15: 1323-1329, 2004
-
(2004)
J Am Soc Nephrol
, vol.15
, pp. 1323-1329
-
-
Kotanko, P.1
Kramar, R.2
Devrnja, D.3
Paschke, E.4
Voigtländer, T.5
Auinger, M.6
Pagliardini, S.7
Spada, M.8
Demmelbauer, K.9
Lorenz, M.10
Hauser, A.C.11
Kofler, H.J.12
Lhotta, K.13
Neyer, U.14
Pronai, W.15
Wallner, M.16
Wieser, C.17
Wiesholzer, M.18
Zodl, H.19
Födinger, M.20
Sunder-Plassmann, G.21
more..
-
6
-
-
26244468125
-
Significance of screening for Fabry disease among male dialysis patients
-
Ichinose M, Nakayama M, Ohashi T, Utsunomiya Y, Kobayashi M, Eto Y: Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol 9: 228-232, 2005
-
(2005)
Clin Exp Nephrol
, vol.9
, pp. 228-232
-
-
Ichinose, M.1
Nakayama, M.2
Ohashi, T.3
Utsunomiya, Y.4
Kobayashi, M.5
Eto, Y.6
-
7
-
-
26844467378
-
Identification of Fabry's disease by the screening of a-galactosidase A activity in male and female hemodialysis patients
-
Tanaka M, Ohashi T, Kobayashi M, Eto Y, Miyamura N, Nishida K, Araki E, Itoh K, Matsushita K, Hara M, Kuwahara K, Nakano T, Yasumoto N, Nonoguchi H, Tomita K: Identification of Fabry's disease by the screening of a-galactosidase A activity in male and female hemodialysis patients. Clin Nephrol 64: 281-287, 2005
-
(2005)
Clin Nephrol
, vol.64
, pp. 281-287
-
-
Tanaka, M.1
Ohashi, T.2
Kobayashi, M.3
Eto, Y.4
Miyamura, N.5
Nishida, K.6
Araki, E.7
Itoh, K.8
Matsushita, K.9
Hara, M.10
Kuwahara, K.11
Nakano, T.12
Yasumoto, N.13
Nonoguchi, H.14
Tomita, K.15
-
8
-
-
23844500993
-
Fabry disease in patients with end-stage renal failure: The potential benefits of screening
-
Bekri S, Enica A, Ghafari T, Plaza G, Champenois I, Choukroun G, Unwin R, Jaeger P: Fabry disease in patients with end-stage renal failure: The potential benefits of screening. Nephron Clin Pract 101: c33-c38, 2005
-
(2005)
Nephron Clin Pract
, vol.101
-
-
Bekri, S.1
Enica, A.2
Ghafari, T.3
Plaza, G.4
Champenois, I.5
Choukroun, G.6
Unwin, R.7
Jaeger, P.8
-
9
-
-
33845986344
-
A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population
-
Merta M, Reiterova J, Ledvinova J, Poupetová H, Dobrovolny R, Rysavá R, Maixnerová D, Bultas J, Motán J, Slivkova J, Sobotova D, Smrzova J, Tesar V: A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant 22: 179-186, 2007
-
(2007)
Nephrol Dial Transplant
, vol.22
, pp. 179-186
-
-
Merta, M.1
Reiterova, J.2
Ledvinova, J.3
Poupetová, H.4
Dobrovolny, R.5
Rysavá, R.6
Maixnerová, D.7
Bultas, J.8
Motán, J.9
Slivkova, J.10
Sobotova, D.11
Smrzova, J.12
Tesar, V.13
-
10
-
-
70350052743
-
Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry disease
-
Fujii H, Kono K, Goto S, Onishi T, Kawai H, Hirata K, Hattori K, Nakamura K, Endo F, Fukagawa M: Prevalence and cardiovascular features of Japanese hemodialysis patients with Fabry disease. Am J Nephrol 30: 527-535, 2009
-
(2009)
Am J Nephrol
, vol.30
, pp. 527-535
-
-
Fujii, H.1
Kono, K.2
Goto, S.3
Onishi, T.4
Kawai, H.5
Hirata, K.6
Hattori, K.7
Nakamura, K.8
Endo, F.9
Fukagawa, M.10
-
11
-
-
77949891815
-
Sá-Miranda MC: Frequency of Fabry disease in male and female haemodialysis patients in Spain
-
Gaspar P, Herrera J, Rodrigues D, Cerezo S, Delgado R, Andrade CF, Forascepi R, Macias J, del Pino MD, Prados MD, de Alegria PR, Torres G, Vidau P, Sá-Miranda MC: Frequency of Fabry disease in male and female haemodialysis patients in Spain. BMC Med Genet 11: 19, 2010
-
(2010)
BMC Med Genet
, vol.11
, pp. 19
-
-
Gaspar, P.1
Herrera, J.2
Rodrigues, D.3
Cerezo, S.4
Delgado, R.5
Andrade, C.F.6
Forascepi, R.7
Macias, J.8
del Pino, M.D.9
Prados, M.D.10
de Alegria, P.R.11
Torres, G.12
Vidau, P.13
-
12
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van Roomen C, Mirzaian M, Wijburg FA, Linthorst GE, Vedder AC, Rombach SM, Cox-Brinkman J, Somerharju P, Boot RG, Hollak CE, Brady RO, Poorthuis BJ: Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 105: 2812-2817, 2008
-
(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
-
13
-
-
77953021876
-
Plasma globotriaosylsphingosine as a biomarker of Fabry disease
-
Togawa T, Kodama T, Suzuki T, Sugawara K, Tsukimura T, Ohashi T, Ishige N, Suzuki K, Kitagawa T, Sakuraba H: Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol Genet Metab 100: 257-261, 2010
-
(2010)
Mol Genet Metab
, vol.100
, pp. 257-261
-
-
Togawa, T.1
Kodama, T.2
Suzuki, T.3
Sugawara, K.4
Tsukimura, T.5
Ohashi, T.6
Ishige, N.7
Suzuki, K.8
Kitagawa, T.9
Sakuraba, H.10
-
14
-
-
77954959657
-
Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease
-
Rombach SM, Dekker N, Bouwman MG, Linthorst GE, Zwinderman AH, Wijburg FA, Kuiper S, Vd BerghWeerman MA, Groener JE, Poorthuis BJ, Hollak CE, Aerts JM: Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta 1802: 741-748, 2010
-
(2010)
Biochim Biophys Acta
, vol.1802
, pp. 741-748
-
-
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, W.M.A.8
Groener, J.E.9
Poorthuis, B.J.10
Hollak, C.E.11
Aerts, J.M.12
-
15
-
-
78650275925
-
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy
-
van Breemen MJ, Rombach SM, Dekker N, Poorthuis BJ, Linthorst GE, Zwinderman AH, Breunig F, Wanner C, Aerts JM, Hollak CE: Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta 1812: 70-76, 2011
-
(2011)
Biochim Biophys Acta
, vol.1812
, pp. 70-76
-
-
van Breemen, M.J.1
Rombach, S.M.2
Dekker, N.3
Poorthuis, B.J.4
Linthorst, G.E.5
Zwinderman, A.H.6
Breunig, F.7
Wanner, C.8
Aerts, J.M.9
Hollak, C.E.10
-
16
-
-
0015583864
-
Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes
-
Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W: Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 81: 157-171, 1973
-
(1973)
J Lab Clin Med
, vol.81
, pp. 157-171
-
-
Desnick, R.J.1
Allen, K.Y.2
Desnick, S.J.3
Raman, M.K.4
Bernlohr, R.W.5
Krivit, W.6
-
17
-
-
38949097593
-
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone
-
Shimotori M, Maruyama H, Nakamura G, Suyama T, Sakamoto F, Itoh M, Miyabayashi S, Ohnishi T, Sakai N, Wataya-Kaneda M, Kubota M, Takahashi T, Mori T, Tamura K, Kageyama S, Shio N, Maeba T, Yahagi H, Tanaka M, Oka M, Sugiyama H, Sugawara T, Mori N, Tsukamoto H, Tamagaki K, Tanda S, Suzuki Y, Shinonaga C, Miyazaki J, Ishii S, Gejyo F: Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone. Hum Mutat 29: 331, 2008
-
(2008)
Hum Mutat
, vol.29
, pp. 331
-
-
Shimotori, M.1
Maruyama, H.2
Nakamura, G.3
Suyama, T.4
Sakamoto, F.5
Itoh, M.6
Miyabayashi, S.7
Ohnishi, T.8
Sakai, N.9
Wataya-Kaneda, M.10
Kubota, M.11
Takahashi, T.12
Mori, T.13
Tamura, K.14
Kageyama, S.15
Shio, N.16
Maeba, T.17
Yahagi, H.18
Tanaka, M.19
Oka, M.20
Sugiyama, H.21
Sugawara, T.22
Mori, N.23
Tsukamoto, H.24
Tamagaki, K.25
Tanda, S.26
Suzuki, Y.27
Shinonaga, C.28
Miyazaki, J.29
Ishii, S.30
Gejyo, F.31
more..
-
18
-
-
84876014253
-
-
The Japanese Association of Medical Sciences: Guidelines for Genetic Tests and Diagnoses in Medical Practice, Available at, Accessed February 18, 2011
-
The Japanese Association of Medical Sciences: Guidelines for Genetic Tests and Diagnoses in Medical Practice, 2011. Available at: http://jams.med.or.jp/. Accessed February 18, 2011
-
(2011)
-
-
-
19
-
-
37349024698
-
Restless legs syndrome in Fabry disease: Clinical feature associated to neuropathic pain is overlooked
-
Domínguez RO, Michref A, Tanus E, Amartino H: [Restless legs syndrome in Fabry disease: Clinical feature associated to neuropathic pain is overlooked]. Rev Neurol 45: 474-478, 2007
-
(2007)
Rev Neurol
, vol.45
, pp. 474-478
-
-
Domínguez, R.O.1
Michref, A.2
Tanus, E.3
Amartino, H.4
-
20
-
-
15044359509
-
Restless legs syndrome, insomnia and quality of life in patients on maintenance dialysis
-
Mucsi I, Molnar MZ, Ambrus C, Szeifert L, Kovacs AZ, Zoller R, Barótfi S, Remport A, Novak M: Restless legs syndrome, insomnia and quality of life in patients on maintenance dialysis. Nephrol Dial Transplant 20: 571-577, 2005
-
(2005)
Nephrol Dial Transplant
, vol.20
, pp. 571-577
-
-
Mucsi, I.1
Molnar, M.Z.2
Ambrus, C.3
Szeifert, L.4
Kovacs, A.Z.5
Zoller, R.6
Barótfi, S.7
Remport, A.8
Novak, M.9
-
21
-
-
33645223499
-
Fabry disease: Identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
-
Shabbeer J, Yasuda M, Benson SD, Desnick RJ: Fabry disease: Identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics 2: 297-309, 2006
-
(2006)
Hum Genomics
, vol.2
, pp. 297-309
-
-
Shabbeer, J.1
Yasuda, M.2
Benson, S.D.3
Desnick, R.J.4
-
22
-
-
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, Baehner F, Kim K, Bajbouj M, Schwarting A, Gal A, Beck M: 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 65: 299-307, 2004
-
(2004)
Clin Genet
, vol.65
, pp. 299-307
-
-
Whybra, C.1
Kampmann, C.2
Krummenauer, F.3
Ries, M.4
Mengel, E.5
Miebach, E.6
Baehner, F.7
Kim, K.8
Bajbouj, M.9
Schwarting, A.10
Gal, A.11
Beck, M.12
-
23
-
-
77957592518
-
Mutations of the GLA gene in Korean patientswith Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns
-
Lee BH, Heo SH, Kim GH, Park JY, Kim WS, Kang DH, Choe KH, Kim WH, Yang SH, Yoo HW: Mutations of the GLA gene in Korean patientswith Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. J Hum Genet 55: 512-517, 2010
-
(2010)
J Hum Genet
, vol.55
, pp. 512-517
-
-
Lee, B.H.1
Heo, S.H.2
Kim, G.H.3
Park, J.Y.4
Kim, W.S.5
Kang, D.H.6
Choe, K.H.7
Kim, W.H.8
Yang, S.H.9
Yoo, H.W.10
-
24
-
-
84862797726
-
Fabry disease: Biochemical, pathological and structural studies of the a-galactosidase A with E66Q amino acid substitution
-
Togawa T, Tsukimura T, Kodama T, Tanaka T, Kawashima I, Saito S, Ohno K, Fukushige T, Kanekura T, Satomura A, Kang DH, Lee BH, Yoo HW, Doi K, Noiri E, Sakuraba H: Fabry disease: Biochemical, pathological and structural studies of the a-galactosidase A with E66Q amino acid substitution. Mol Genet Metab 105: 615-620, 2012
-
(2012)
Mol Genet Metab
, vol.105
, pp. 615-620
-
-
Togawa, T.1
Tsukimura, T.2
Kodama, T.3
Tanaka, T.4
Kawashima, I.5
Saito, S.6
Ohno, K.7
Fukushige, T.8
Kanekura, T.9
Satomura, A.10
Kang, D.H.11
Lee, B.H.12
Yoo, H.W.13
Doi, K.14
Noiri, E.15
Sakuraba, H.16
-
25
-
-
38749085341
-
Screening for Fabry disease in patients with chronic kidney disease: Limitations of plasma a-galactosidase assay as a screening test
-
Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, Sirrs S: Screening for Fabry disease in patients with chronic kidney disease: Limitations of plasma a-galactosidase assay as a screening test. Clin J Am Soc Nephrol 3: 139-145, 2008
-
(2008)
Clin J Am Soc Nephrol
, vol.3
, pp. 139-145
-
-
Andrade, J.1
Waters, P.J.2
Singh, R.S.3
Levin, A.4
Toh, B.C.5
Vallance, H.D.6
Sirrs, S.7
-
26
-
-
79955678318
-
Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group
-
Gal A, Hughes DA, Winchester B: Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group. J Inherit Metab Dis 34: 509-514, 2011
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 509-514
-
-
Gal, A.1
Hughes, D.A.2
Winchester, B.3
-
27
-
-
78650740549
-
-
Fabry Disease, edited by Elstein D, Altarescu G, Beck M, Dordrecht, The Netherlands, Springer Science + Business Media B.V
-
Gal A: Molecular genetics of Fabry disease and genotype-phenotype correlation. In: Fabry Disease, edited by Elstein D, Altarescu G, Beck M, Dordrecht, The Netherlands, Springer Science + Business Media B.V., 2010, pp 3-19
-
(2010)
Molecular Genetics of Fabry Disease and Genotype-phenotype Correlation
, pp. 3-19
-
-
Gal, A.1
-
28
-
-
84860723130
-
Identification of a novel mutation and prevalence study for Fabry disease in Japanese dialysis patients
-
Nishino T, Obata Y, Furusu A, Hirose M, Shinzato K, Hattori K, Nakamura K, Matsumoto T, Endo F, Kohno S: Identification of a novel mutation and prevalence study for Fabry disease in Japanese dialysis patients. Ren Fail 34: 566-570, 2012
-
(2012)
Ren Fail
, vol.34
, pp. 566-570
-
-
Nishino, T.1
Obata, Y.2
Furusu, A.3
Hirose, M.4
Shinzato, K.5
Hattori, K.6
Nakamura, K.7
Matsumoto, T.8
Endo, F.9
Kohno, S.10
-
29
-
-
84867665739
-
The frequency of Fabry diseasewith the E66Q variant in the a-galactosidase A gene in Japanese dialysis patients: A case report and a literature review
-
Kikumoto Y, Sugiyama H, Morinaga H, Inoue T, Takiue K, Kitagawa M, Saito D, Takatori Y, Kinomura M, Kitamura S, Akagi S, Sada K, Nakao K, Maeshima Y, Kitayama H, Makino H: The frequency of Fabry diseasewith the E66Q variant in the a-galactosidase A gene in Japanese dialysis patients: A case report and a literature review. Clin Nephrol 78: 224-229, 2012
-
(2012)
Clin Nephrol
, vol.78
, pp. 224-229
-
-
Kikumoto, Y.1
Sugiyama, H.2
Morinaga, H.3
Inoue, T.4
Takiue, K.5
Kitagawa, M.6
Saito, D.7
Takatori, Y.8
Kinomura, M.9
Kitamura, S.10
Akagi, S.11
Sada, K.12
Nakao, K.13
Maeshima, Y.14
Kitayama, H.15
Makino, H.16
|