-
1
-
-
84980085880
-
A case of angiokeratoma
-
1 Anderson, W.A., A case of angiokeratoma. Br J Dermatol 18 (1898), 113–117.
-
(1898)
Br J Dermatol
, vol.18
, pp. 113-117
-
-
Anderson, W.A.1
-
2
-
-
34447607076
-
Ein Betrag zur Kenntnis der Purpura hammarrhagica nodularis
-
2 Fabry, J., Ein Betrag zur Kenntnis der Purpura hammarrhagica nodularis. Arch Dermatol Syphilol 43 (1898), 187–200.
-
(1898)
Arch Dermatol Syphilol
, vol.43
, pp. 187-200
-
-
Fabry, J.1
-
3
-
-
78651001239
-
Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports
-
3 Pompen, A.W., Ruiter, M., Wyers, H.J., Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports. Acta Med Scand 128 (1947), 234–255.
-
(1947)
Acta Med Scand
, vol.128
, pp. 234-255
-
-
Pompen, A.W.1
Ruiter, M.2
Wyers, H.J.3
-
4
-
-
34250907258
-
-
Excision of skin in diagnosis of Fabry's angiokeratoma with cardio-vasorenal syndrome as phosphatide storage disease
-
4 Hornbostel, H., Scriba, K., (Trans.) Excision of skin in diagnosis of Fabry's angiokeratoma with cardio-vasorenal syndrome as phosphatide storage disease Klin Wochenschr 31 (1953), 68–69.
-
(1953)
Klin Wochenschr
, vol.31
, pp. 68-69
-
-
Hornbostel, H.1
Scriba, K.2
-
5
-
-
0001089467
-
Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid
-
5 Sweeley, C.C., Klionsky, B.L., Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem, 238, 1963, PC3148.
-
(1963)
J Biol Chem
, vol.238
, pp. PC3148
-
-
Sweeley, C.C.1
Klionsky, B.L.2
-
6
-
-
0014216741
-
Enzymatic defect in Fabry disease: ceramide trihexosidase deficiency
-
6 Brady, R., Gal, A.E., Bradley, R.M., Martensson, E., Warshaw, A.L., Laster, L., Enzymatic defect in Fabry disease: ceramide trihexosidase deficiency. N Engl J Med 276 (1967), 1163–1167.
-
(1967)
N Engl J Med
, vol.276
, pp. 1163-1167
-
-
Brady, R.1
Gal, A.E.2
Bradley, R.M.3
Martensson, E.4
Warshaw, A.L.5
Laster, L.6
-
7
-
-
0014964372
-
Fabry's disease: alpha-galactosidase deficiency
-
7 Kint, J.A., Fabry's disease: alpha-galactosidase deficiency. Science 167 (1970), 1268–1269.
-
(1970)
Science
, vol.167
, pp. 1268-1269
-
-
Kint, J.A.1
-
8
-
-
0001125489
-
The genetics of angiokeratoma corporis diffusum (Fabry's disease), and its linkage with Xg(a) locus
-
8 Opitz, J.M., Stiles, F.C., Wise, D., et al. The genetics of angiokeratoma corporis diffusum (Fabry's disease), and its linkage with Xg(a) locus. Am J Hum Genet 17 (1965), 325–342.
-
(1965)
Am J Hum Genet
, vol.17
, pp. 325-342
-
-
Opitz, J.M.1
Stiles, F.C.2
Wise, D.3
-
9
-
-
0022409712
-
Fabry disease: isolation of a cDNA clone encoding human alpha- galactosidase A
-
9 Calhoun, D.H., Bishop, D.F., Bernstein, H.S., Quinn, M., Hantzopoulos, P., Desnick, R.J., Fabry disease: isolation of a cDNA clone encoding human alpha- galactosidase A. Proc Natl Acad Sci U S A 82 (1985), 7364–7368.
-
(1985)
Proc Natl Acad Sci U S A
, vol.82
, pp. 7364-7368
-
-
Calhoun, D.H.1
Bishop, D.F.2
Bernstein, H.S.3
Quinn, M.4
Hantzopoulos, P.5
Desnick, R.J.6
-
10
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
10 Meikle, P.J., Hopwood, J.J., Clague, A.E., Carey, W.F., Prevalence of lysosomal storage disorders. JAMA 281 (1999), 249–254.
-
(1999)
JAMA
, vol.281
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
11
-
-
33745280137
-
High incidence of later-onset fabry disease revealed by newborn screening
-
11 Spada, M., Pagliardini, S., Yasuda, M., et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 79 (2006), 31–40.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
-
12
-
-
84883270482
-
Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study
-
12 Inoue, T., Hattori, K., Ihara, K., Ishii, A., Nakamura, K., Hirose, S., Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study. J Hum Genet 58 (2013), 548–552.
-
(2013)
J Hum Genet
, vol.58
, pp. 548-552
-
-
Inoue, T.1
Hattori, K.2
Ihara, K.3
Ishii, A.4
Nakamura, K.5
Hirose, S.6
-
13
-
-
84880616117
-
Fabry disease: incidence of the common later-onset alpha-galactosidase A IVS4+919G→A mutation in Taiwanese newborns—superiority of DNA-based to enzyme-based newborn screening for common mutations
-
13 Chien, Y.H., Lee, N.C., Chiang, S.C., Desnick, R.J., Hwu, W.L., Fabry disease: incidence of the common later-onset alpha-galactosidase A IVS4+919G→A mutation in Taiwanese newborns—superiority of DNA-based to enzyme-based newborn screening for common mutations. Mol Med 18 (2012), 780–784.
-
(2012)
Mol Med
, vol.18
, pp. 780-784
-
-
Chien, Y.H.1
Lee, N.C.2
Chiang, S.C.3
Desnick, R.J.4
Hwu, W.L.5
-
14
-
-
84872956926
-
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study
-
14 Rolfs, A., Fazekas, F., Grittner, U., et al. Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study. Stroke 44 (2013), 340–349.
-
(2013)
Stroke
, vol.44
, pp. 340-349
-
-
Rolfs, A.1
Fazekas, F.2
Grittner, U.3
-
15
-
-
84883811102
-
Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy
-
15 Terryn, W., Deschoenmakere, G., De Keyser, J., et al. Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy. Int J Cardiol 167 (2013), 2555–2560.
-
(2013)
Int J Cardiol
, vol.167
, pp. 2555-2560
-
-
Terryn, W.1
Deschoenmakere, G.2
De Keyser, J.3
-
16
-
-
84860723130
-
Identification of a novel mutation and prevalence study for Fabry disease in Japanese dialysis patients
-
16 Nishino, T., Obata, Y., Furusu, A., et al. Identification of a novel mutation and prevalence study for Fabry disease in Japanese dialysis patients. Ren Fail 34 (2012), 566–570.
-
(2012)
Ren Fail
, vol.34
, pp. 566-570
-
-
Nishino, T.1
Obata, Y.2
Furusu, A.3
-
17
-
-
84898657027
-
Risk of death in heart disease is associated with elevated urinary globotriaosylceramide
-
17 Schiffmann, R., Forni, S., Swift, C., et al. Risk of death in heart disease is associated with elevated urinary globotriaosylceramide. J Am Heart Assoc, 3, 2014, e000394.
-
(2014)
J Am Heart Assoc
, vol.3
, pp. e000394
-
-
Schiffmann, R.1
Forni, S.2
Swift, C.3
-
18
-
-
84942922322
-
Clinical research in vulnerable populations: variability and focus of institutional review boards' responses
-
18 Kastner, B., Behre, S., Lutz, N., et al. Clinical research in vulnerable populations: variability and focus of institutional review boards' responses. PLoS One, 10, 2015, e0135997.
-
(2015)
PLoS One
, vol.10
, pp. e0135997
-
-
Kastner, B.1
Behre, S.2
Lutz, N.3
-
19
-
-
33947687663
-
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
-
19 Eng, C.M., Fletcher, J., Wilcox, W.R., et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 30 (2007), 184–192.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 184-192
-
-
Eng, C.M.1
Fletcher, J.2
Wilcox, W.R.3
-
20
-
-
84992744235
-
The modulatory effects of the polymorphisms in GLA 5'-untranslated region upon gene expression are cell-type specific
-
20 Ferreira, S., Reguenga, C., Oliveira, J.P., The modulatory effects of the polymorphisms in GLA 5'-untranslated region upon gene expression are cell-type specific. JIMD Rep 23 (2015), 27–34.
-
(2015)
JIMD Rep
, vol.23
, pp. 27-34
-
-
Ferreira, S.1
Reguenga, C.2
Oliveira, J.P.3
-
21
-
-
84900314408
-
Fabry disease: a new approach for the screening of females in high-risk groups
-
21 Pasqualim, G., Simon, L., Sperb-Ludwig, F., et al. Fabry disease: a new approach for the screening of females in high-risk groups. Clin Biochem 47 (2014), 657–662.
-
(2014)
Clin Biochem
, vol.47
, pp. 657-662
-
-
Pasqualim, G.1
Simon, L.2
Sperb-Ludwig, F.3
-
22
-
-
84964696389
-
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype
-
22 Schelleckes, M., Lenders, M., Guske, K., et al. Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype. Orphanet J Rare Dis, 9, 2014, 178.
-
(2014)
Orphanet J Rare Dis
, vol.9
, pp. 178
-
-
Schelleckes, M.1
Lenders, M.2
Guske, K.3
-
23
-
-
0041800664
-
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region
-
23 Bishop, D.F., Kornreich, R., Desnick, R.J., Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. Proc Natl Acad Sci U S A 85 (1988), 3903–3907.
-
(1988)
Proc Natl Acad Sci U S A
, vol.85
, pp. 3903-3907
-
-
Bishop, D.F.1
Kornreich, R.2
Desnick, R.J.3
-
24
-
-
1442299241
-
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase
-
24 Garman, S.C., Garboczi, D.N., The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol 337 (2004), 319–335.
-
(2004)
J Mol Biol
, vol.337
, pp. 319-335
-
-
Garman, S.C.1
Garboczi, D.N.2
-
25
-
-
33749629725
-
Fabry disease in mice protects against lethal disease caused by Shiga toxin-expressing enterohemorrhagic Escherichia coli
-
25 Cilmi, S.A., Karalius, B.J., Choy, W., Smith, R.N., Butterton, J.R., Fabry disease in mice protects against lethal disease caused by Shiga toxin-expressing enterohemorrhagic Escherichia coli. J Infect Dis 194 (2006), 1135–1140.
-
(2006)
J Infect Dis
, vol.194
, pp. 1135-1140
-
-
Cilmi, S.A.1
Karalius, B.J.2
Choy, W.3
Smith, R.N.4
Butterton, J.R.5
-
26
-
-
0000889058
-
α-Galactosidase A deficiency: Fabry disease
-
C.R. Scriver A.L. Beaudet W.S. Sly D. Valle 8 ed. McGraw-Hill New York
-
26 Desnick, R.J., Ioannou, Y.A., Eng, C.M., α-Galactosidase A deficiency: Fabry disease. Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., (eds.) The Metabolic and Molecular Bases of Inherited Disease, 8 ed., 2001, McGraw-Hill, New York, 3733–3774.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
27
-
-
20344382763
-
Pediatric Fabry disease
-
27 Ries, M., Gupta, S., Moore, D.F., et al. Pediatric Fabry disease. Pediatrics 115 (2005), e344–e355.
-
(2005)
Pediatrics
, vol.115
, pp. e344-e355
-
-
Ries, M.1
Gupta, S.2
Moore, D.F.3
-
28
-
-
67651123138
-
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
-
28 Schiffmann, R., Warnock, D.G., Banikazemi, M., et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 24 (2009), 2102–2111.
-
(2009)
Nephrol Dial Transplant
, vol.24
, pp. 2102-2111
-
-
Schiffmann, R.1
Warnock, D.G.2
Banikazemi, M.3
-
29
-
-
33846447796
-
The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels
-
29 Vedder, A.C., Linthorst, G.E., van Breemen, M.J., et al. The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis 30 (2007), 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
-
30
-
-
33645411928
-
Quantitative dysmorphology assessment in Fabry disease
-
30 Ries, M., Moore, D.F., Robinson, C.J., et al. Quantitative dysmorphology assessment in Fabry disease. Genet Med 8 (2006), 96–101.
-
(2006)
Genet Med
, vol.8
, pp. 96-101
-
-
Ries, M.1
Moore, D.F.2
Robinson, C.J.3
-
31
-
-
84947505460
-
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial
-
31 Wijburg, F.A., Benichou, B., Bichet, D.G., et al. Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. PLoS One, 10, 2015, e0124987.
-
(2015)
PLoS One
, vol.10
, pp. e0124987
-
-
Wijburg, F.A.1
Benichou, B.2
Bichet, D.G.3
-
32
-
-
33947575305
-
Gastrointestinal symptoms in Fabry disease: everything is possible, including treatment
-
32 Hoffmann, B., Keshav, S., Gastrointestinal symptoms in Fabry disease: everything is possible, including treatment. Acta Paediatr Suppl 96 (2007), 84–86.
-
(2007)
Acta Paediatr Suppl
, vol.96
, pp. 84-86
-
-
Hoffmann, B.1
Keshav, S.2
-
33
-
-
0028858962
-
Histopathologic and ultrastructural studies of angiokeratoma corporis diffusum in Kanzaki disease
-
33 Yokota, M., Koji, M., Yotsumoto, S., Histopathologic and ultrastructural studies of angiokeratoma corporis diffusum in Kanzaki disease. J Dermatol 22 (1995), 10–18.
-
(1995)
J Dermatol
, vol.22
, pp. 10-18
-
-
Yokota, M.1
Koji, M.2
Yotsumoto, S.3
-
34
-
-
84907114447
-
Corneal changes in Fabry's disease: a clinico-pathologic case report of a heterozygote
-
34 Macrae, W.G., Ghosh, M., McCulloch, C., Corneal changes in Fabry's disease: a clinico-pathologic case report of a heterozygote. Ophthalmic Paediatr Genet 5 (1985), 185–190.
-
(1985)
Ophthalmic Paediatr Genet
, vol.5
, pp. 185-190
-
-
Macrae, W.G.1
Ghosh, M.2
McCulloch, C.3
-
35
-
-
0036122659
-
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course
-
35 Branton, M.H., Schiffmann, R., Sabnis, S.G., et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81 (2002), 122–138.
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 122-138
-
-
Branton, M.H.1
Schiffmann, R.2
Sabnis, S.G.3
-
36
-
-
55849108852
-
Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry
-
36 Hopkin, R.J., Bissler, J., Banikazemi, M., et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 64 (2008), 550–555.
-
(2008)
Pediatr Res
, vol.64
, pp. 550-555
-
-
Hopkin, R.J.1
Bissler, J.2
Banikazemi, M.3
-
37
-
-
55749096248
-
Onset and progression of the Anderson-Fabry disease related cardiomyopathy
-
37 Kampmann, C., Linhart, A., Baehner, F., et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 130 (2008), 367–373.
-
(2008)
Int J Cardiol
, vol.130
, pp. 367-373
-
-
Kampmann, C.1
Linhart, A.2
Baehner, F.3
-
38
-
-
0032944086
-
Quantitative analysis of epidermal innervation in Fabry disease
-
38 Scott, L.J., Griffin, J.W., Luciano, C., et al. Quantitative analysis of epidermal innervation in Fabry disease. Neurology 52 (1999), 1249–1254.
-
(1999)
Neurology
, vol.52
, pp. 1249-1254
-
-
Scott, L.J.1
Griffin, J.W.2
Luciano, C.3
-
39
-
-
0036843206
-
Physiologic characterization of neuropathy in Fabry disease
-
39 Luciano, C.A., Russell, J.W., Banerjee, T., et al. Physiologic characterization of neuropathy in Fabry disease. Muscle Nerve 26 (2002), 622–629.
-
(2002)
Muscle Nerve
, vol.26
, pp. 622-629
-
-
Luciano, C.A.1
Russell, J.W.2
Banerjee, T.3
-
40
-
-
53749104902
-
Fabry's disease
-
40 Zarate, Y.A., Hopkin, R.J., Fabry's disease. Lancet 372 (2008), 1427–1435.
-
(2008)
Lancet
, vol.372
, pp. 1427-1435
-
-
Zarate, Y.A.1
Hopkin, R.J.2
-
41
-
-
78649677073
-
Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease
-
41 Marshall, J., Ashe, K.M., Bangari, D., et al. Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease. PLoS One, 5, 2010, e15033.
-
(2010)
PLoS One
, vol.5
, pp. e15033
-
-
Marshall, J.1
Ashe, K.M.2
Bangari, D.3
-
42
-
-
33845884323
-
Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease
-
42 Ries, M., Kim, H.J., Zalewski, C.K., et al. Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. Brain 130 (2007), 143–150.
-
(2007)
Brain
, vol.130
, pp. 143-150
-
-
Ries, M.1
Kim, H.J.2
Zalewski, C.K.3
-
43
-
-
29944437554
-
Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey
-
43 Ramaswami, U., Whybra, C., Parini, R., et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 95 (2006), 86–92.
-
(2006)
Acta Paediatr
, vol.95
, pp. 86-92
-
-
Ramaswami, U.1
Whybra, C.2
Parini, R.3
-
44
-
-
44449143398
-
Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy
-
44 Ortiz, A., Oliveira, J.P., Waldek, S., Warnock, D.G., Cianciaruso, B., Wanner, C., Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 23 (2008), 1600–1607.
-
(2008)
Nephrol Dial Transplant
, vol.23
, pp. 1600-1607
-
-
Ortiz, A.1
Oliveira, J.P.2
Waldek, S.3
Warnock, D.G.4
Cianciaruso, B.5
Wanner, C.6
-
45
-
-
44449086408
-
Vasopressin receptor mutations in nephrogenic diabetes insipidus
-
45 Bichet, D.G., Vasopressin receptor mutations in nephrogenic diabetes insipidus. Semin Nephrol 28 (2008), 245–251.
-
(2008)
Semin Nephrol
, vol.28
, pp. 245-251
-
-
Bichet, D.G.1
-
46
-
-
34247327312
-
The heart in Anderson-Fabry disease and other lysosomal storage disorders
-
46 Linhart, A., Elliott, P.M., The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 93 (2007), 528–535.
-
(2007)
Heart
, vol.93
, pp. 528-535
-
-
Linhart, A.1
Elliott, P.M.2
-
47
-
-
84939811174
-
Pathology and function of conduction tissue in Fabry disease cardiomyopathy
-
47 Frustaci, A., Morgante, E., Russo, M.A., et al. Pathology and function of conduction tissue in Fabry disease cardiomyopathy. Circ Arrhythm Electrophysiol 8 (2015), 799–805.
-
(2015)
Circ Arrhythm Electrophysiol
, vol.8
, pp. 799-805
-
-
Frustaci, A.1
Morgante, E.2
Russo, M.A.3
-
48
-
-
84922042485
-
Microvascular angina as prehypertrophic presentation of Fabry disease cardiomyopathy
-
48 Frustaci, A., Russo, M.A., Francone, M., Chimenti, C., Microvascular angina as prehypertrophic presentation of Fabry disease cardiomyopathy. Circulation 130 (2014), 1530–1531.
-
(2014)
Circulation
, vol.130
, pp. 1530-1531
-
-
Frustaci, A.1
Russo, M.A.2
Francone, M.3
Chimenti, C.4
-
49
-
-
0032803988
-
Dynamic left ventricular arterial pressure gradient and sick sinus syndrome with heterozygous Fabry's disease improved following implantation of a dual chamber pacemaker
-
49 Nakayama, Y., Tsumura, K., Yamashita, N., Yoshimaru, K., Dynamic left ventricular arterial pressure gradient and sick sinus syndrome with heterozygous Fabry's disease improved following implantation of a dual chamber pacemaker. Pacing Clin Electrophysiol 22 (1999), 1114–1115.
-
(1999)
Pacing Clin Electrophysiol
, vol.22
, pp. 1114-1115
-
-
Nakayama, Y.1
Tsumura, K.2
Yamashita, N.3
Yoshimaru, K.4
-
50
-
-
33846082470
-
Significance of asymmetric basal posterior wall thinning in patients with cardiac Fabry's disease
-
50 Kawano, M., Takenaka, T., Otsuji, Y., et al. Significance of asymmetric basal posterior wall thinning in patients with cardiac Fabry's disease. Am J Cardiol 99 (2007), 261–263.
-
(2007)
Am J Cardiol
, vol.99
, pp. 261-263
-
-
Kawano, M.1
Takenaka, T.2
Otsuji, Y.3
-
51
-
-
62449143800
-
Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry
-
51 Sims, K., Politei, J., Banikazemi, M., Lee, P., Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 40 (2009), 788–794.
-
(2009)
Stroke
, vol.40
, pp. 788-794
-
-
Sims, K.1
Politei, J.2
Banikazemi, M.3
Lee, P.4
-
52
-
-
33749067655
-
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease
-
52 Ries, M., Clarke, J.T., Whybra, C., et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 118 (2006), 924–932.
-
(2006)
Pediatrics
, vol.118
, pp. 924-932
-
-
Ries, M.1
Clarke, J.T.2
Whybra, C.3
-
53
-
-
0037938617
-
Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease
-
53 Moore, D.F., Ye, F., Schiffmann, R., Butman, J.A., Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol 24 (2003), 1096–1101.
-
(2003)
AJNR Am J Neuroradiol
, vol.24
, pp. 1096-1101
-
-
Moore, D.F.1
Ye, F.2
Schiffmann, R.3
Butman, J.A.4
-
54
-
-
84920409668
-
Cerebrovascular involvement in Fabry disease: current status of knowledge
-
54 Kolodny, E., Fellgiebel, A., Hilz, M.J., et al. Cerebrovascular involvement in Fabry disease: current status of knowledge. Stroke 46 (2015), 302–313.
-
(2015)
Stroke
, vol.46
, pp. 302-313
-
-
Kolodny, E.1
Fellgiebel, A.2
Hilz, M.J.3
-
55
-
-
0347123263
-
White matter lesions in Fabry disease occur in ‘prior’ selectively hypometabolic and hyperperfused brain regions
-
55 Moore, D.F., Altarescu, G., Barker, W.C., Patronas, N.J., Herscovitch, P., Schiffmann, R., White matter lesions in Fabry disease occur in ‘prior’ selectively hypometabolic and hyperperfused brain regions. Brain Res Bull 62 (2003), 231–240.
-
(2003)
Brain Res Bull
, vol.62
, pp. 231-240
-
-
Moore, D.F.1
Altarescu, G.2
Barker, W.C.3
Patronas, N.J.4
Herscovitch, P.5
Schiffmann, R.6
-
56
-
-
0029891216
-
Cerebrovascular complications of Fabry's disease
-
56 Mitsias, P., Levine, S.R., Cerebrovascular complications of Fabry's disease. Ann Neurol 40 (1996), 8–17.
-
(1996)
Ann Neurol
, vol.40
, pp. 8-17
-
-
Mitsias, P.1
Levine, S.R.2
-
57
-
-
33751512520
-
Endocrine dysfunction in patients with Fabry disease
-
57 Faggiano, A., Pisani, A., Milone, F., et al. Endocrine dysfunction in patients with Fabry disease. J Clin Endocrinol Metab 91 (2006), 4319–4325.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4319-4325
-
-
Faggiano, A.1
Pisani, A.2
Milone, F.3
-
58
-
-
33847327950
-
Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities
-
58 Moore, D.F., Krokhin, O.V., Beavis, R.C., et al. Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities. Proc Natl Acad Sci U S A 104 (2007), 2873–2878.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 2873-2878
-
-
Moore, D.F.1
Krokhin, O.V.2
Beavis, R.C.3
-
59
-
-
33845698287
-
Myeloperoxidase predicts risk of vasculopathic events in hemizygous males with Fabry disease
-
59 Kaneski, C.R., Moore, D.F., Ries, M., Zirzow, G.C., Schiffmann, R., Myeloperoxidase predicts risk of vasculopathic events in hemizygous males with Fabry disease. Neurology 67 (2006), 2045–2047.
-
(2006)
Neurology
, vol.67
, pp. 2045-2047
-
-
Kaneski, C.R.1
Moore, D.F.2
Ries, M.3
Zirzow, G.C.4
Schiffmann, R.5
-
60
-
-
0028574103
-
Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings
-
60 Chabas, A., Coll, M.J., Aparicio, M., Rodriguez Diaz, E., Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. J Inherit Metab Dis 17 (1994), 724–731.
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 724-731
-
-
Chabas, A.1
Coll, M.J.2
Aparicio, M.3
Rodriguez Diaz, E.4
-
61
-
-
84890880686
-
A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
-
61 van der Tol, L., Smid, B.E., Poorthuis, B.J., et al. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance. J Med Genet 51 (2014), 1–9.
-
(2014)
J Med Genet
, vol.51
, pp. 1-9
-
-
van der Tol, L.1
Smid, B.E.2
Poorthuis, B.J.3
-
62
-
-
33646685716
-
The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked
-
62 Dobyns, W.B., The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr Suppl 95 (2006), 11–15.
-
(2006)
Acta Paediatr Suppl
, vol.95
, pp. 11-15
-
-
Dobyns, W.B.1
-
63
-
-
84955190990
-
X chromosome inactivation in female patients with Fabry disease
-
63 Echevarria, L., Benistan, K., Toussaint, A., et al. X chromosome inactivation in female patients with Fabry disease. Clin Genet 89 (2016), 44–54.
-
(2016)
Clin Genet
, vol.89
, pp. 44-54
-
-
Echevarria, L.1
Benistan, K.2
Toussaint, A.3
-
64
-
-
33846265851
-
Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life
-
64 Wang, R.Y., Lelis, A., Mirocha, J., Wilcox, W.R., Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 9 (2007), 34–45.
-
(2007)
Genet Med
, vol.9
, pp. 34-45
-
-
Wang, R.Y.1
Lelis, A.2
Mirocha, J.3
Wilcox, W.R.4
-
65
-
-
38049036770
-
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry
-
65 Wilcox, W.R., Oliveira, J.P., Hopkin, R.J., et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 93 (2008), 112–128.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 112-128
-
-
Wilcox, W.R.1
Oliveira, J.P.2
Hopkin, R.J.3
-
66
-
-
33645830674
-
Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation
-
66 Shen, Y., Bodary, P.F., Vargas, F.B., et al. Alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation. Stroke 37 (2006), 1106–1108.
-
(2006)
Stroke
, vol.37
, pp. 1106-1108
-
-
Shen, Y.1
Bodary, P.F.2
Vargas, F.B.3
-
67
-
-
13444283308
-
Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency
-
67 Bodary, P.F., Shen, Y., Vargas, F.B., et al. Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency. Circulation 111 (2005), 629–632.
-
(2005)
Circulation
, vol.111
, pp. 629-632
-
-
Bodary, P.F.1
Shen, Y.2
Vargas, F.B.3
-
68
-
-
21144431735
-
Effect of genetic modifiers on cerebral lesions in Fabry disease
-
68 Altarescu, G., Moore, D.F., Schiffmann, R., Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 64 (2005), 2148–2150.
-
(2005)
Neurology
, vol.64
, pp. 2148-2150
-
-
Altarescu, G.1
Moore, D.F.2
Schiffmann, R.3
-
69
-
-
84924358989
-
Thromboembolic events in Fabry disease and the impact of factor V Leiden
-
69 Lenders, M., Karabul, N., Duning, T., et al. Thromboembolic events in Fabry disease and the impact of factor V Leiden. Neurology 84 (2015), 1009–1016.
-
(2015)
Neurology
, vol.84
, pp. 1009-1016
-
-
Lenders, M.1
Karabul, N.2
Duning, T.3
-
70
-
-
84900341800
-
Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease
-
70 Uceyler, N., Homola, G.A., Guerrero Gonzalez, H., et al. Increased arterial diameters in the posterior cerebral circulation in men with Fabry disease. PLoS One, 9, 2014, e87054.
-
(2014)
PLoS One
, vol.9
, pp. e87054
-
-
Uceyler, N.1
Homola, G.A.2
Guerrero Gonzalez, H.3
-
71
-
-
4344633906
-
Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease
-
71 Ries, M., Bettis, K.E., Choyke, P., et al. Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease. Kidney Int 66 (2004), 978–982.
-
(2004)
Kidney Int
, vol.66
, pp. 978-982
-
-
Ries, M.1
Bettis, K.E.2
Choyke, P.3
-
72
-
-
84884493018
-
T1 mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sex
-
72 Thompson, R.B., Chow, K., Khan, A., et al. T1 mapping with cardiovascular MRI is highly sensitive for Fabry disease independent of hypertrophy and sex. Circ Cardiovasc Imaging 6 (2013), 637–645.
-
(2013)
Circ Cardiovasc Imaging
, vol.6
, pp. 637-645
-
-
Thompson, R.B.1
Chow, K.2
Khan, A.3
-
73
-
-
79958810192
-
Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment
-
73 Niemann, M., Herrmann, S., Hu, K., et al. Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. JACC Cardiovasc Imaging 4 (2011), 592–601.
-
(2011)
JACC Cardiovasc Imaging
, vol.4
, pp. 592-601
-
-
Niemann, M.1
Herrmann, S.2
Hu, K.3
-
74
-
-
0027419497
-
Lysosomal glycosphingolipid storage in chloroquine-induced alpha-galactosidase-deficient human endothelial cells with transformation by simian virus 40: in vitro model of Fabry disease
-
74 Inagaki, M., Katsumoto, T., Nanba, E., Ohno, K., Suehiro, S., Takeshita, K., Lysosomal glycosphingolipid storage in chloroquine-induced alpha-galactosidase-deficient human endothelial cells with transformation by simian virus 40: in vitro model of Fabry disease. Acta Neuropathol 85 (1993), 272–279.
-
(1993)
Acta Neuropathol
, vol.85
, pp. 272-279
-
-
Inagaki, M.1
Katsumoto, T.2
Nanba, E.3
Ohno, K.4
Suehiro, S.5
Takeshita, K.6
-
75
-
-
0021066103
-
Silicon nephropathy mimicking Fabry's disease
-
75 Banks, D.E., Milutinovic, J., Desnick, R.J., Grabowski, G.A., Lapp, N.L., Boehlecke, B.A., Silicon nephropathy mimicking Fabry's disease. Am J Nephrol 3 (1983), 279–284.
-
(1983)
Am J Nephrol
, vol.3
, pp. 279-284
-
-
Banks, D.E.1
Milutinovic, J.2
Desnick, R.J.3
Grabowski, G.A.4
Lapp, N.L.5
Boehlecke, B.A.6
-
76
-
-
84921670805
-
The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies
-
76 Ferreira, S., Ortiz, A., Germain, D.P., et al. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies. Mol Genet Metab 114 (2015), 248–258.
-
(2015)
Mol Genet Metab
, vol.114
, pp. 248-258
-
-
Ferreira, S.1
Ortiz, A.2
Germain, D.P.3
-
77
-
-
84948722982
-
Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders
-
77 Calzavara-Pinton, P.G., Colombi, M., Carlino, A., et al. Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders. Arch Dermatol 131 (1995), 57–62.
-
(1995)
Arch Dermatol
, vol.131
, pp. 57-62
-
-
Calzavara-Pinton, P.G.1
Colombi, M.2
Carlino, A.3
-
78
-
-
10044248133
-
Beta-mannosidosis with angiokeratoma corporis diffusum
-
78 Suzuki, N., Konohana, I., Fukushige, T., Kanzaki, T., Beta-mannosidosis with angiokeratoma corporis diffusum. J Dermatol 31 (2004), 931–935.
-
(2004)
J Dermatol
, vol.31
, pp. 931-935
-
-
Suzuki, N.1
Konohana, I.2
Fukushige, T.3
Kanzaki, T.4
-
79
-
-
17744366780
-
A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation
-
79 Kodama, K., Kobayashi, H., Abe, R., et al. A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation. Br J Dermatol 144 (2001), 363–368.
-
(2001)
Br J Dermatol
, vol.144
, pp. 363-368
-
-
Kodama, K.1
Kobayashi, H.2
Abe, R.3
-
80
-
-
0031844115
-
Angiokeratoma corporis diffusum associated with galactosialidosis
-
80 Kawachi, Y., Matsu-ura, K., Sakuraba, H., Otsuka, F., Angiokeratoma corporis diffusum associated with galactosialidosis. Dermatology 197 (1998), 52–54.
-
(1998)
Dermatology
, vol.197
, pp. 52-54
-
-
Kawachi, Y.1
Matsu-ura, K.2
Sakuraba, H.3
Otsuka, F.4
-
81
-
-
0028097391
-
Angiokeratoma corporis diffusum in fucosidosis
-
81 George, S., Graham-Brown, R.A., Angiokeratoma corporis diffusum in fucosidosis. J R Soc Med, 87, 1994, 707.
-
(1994)
J R Soc Med
, vol.87
, pp. 707
-
-
George, S.1
Graham-Brown, R.A.2
-
82
-
-
0026573206
-
Angiokeratoma corporis diffusum in a patient with normal enzyme activities and Turner's syndrome
-
82 Gasparini, G., Sarchi, G., Cavicchini, S., Bertagnolio, B., Angiokeratoma corporis diffusum in a patient with normal enzyme activities and Turner's syndrome. Clin Exp Dermatol 17 (1992), 56–59.
-
(1992)
Clin Exp Dermatol
, vol.17
, pp. 56-59
-
-
Gasparini, G.1
Sarchi, G.2
Cavicchini, S.3
Bertagnolio, B.4
-
83
-
-
0024356478
-
Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1
-
83 Beratis, N.G., Varvarigou-Frimas, A., Beratis, S., Sklower, S.L., Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1. Clin Genet 36 (1989), 59–64.
-
(1989)
Clin Genet
, vol.36
, pp. 59-64
-
-
Beratis, N.G.1
Varvarigou-Frimas, A.2
Beratis, S.3
Sklower, S.L.4
-
84
-
-
0030807841
-
Idiopathic angiokeratoma corporis diffusum
-
84 Fimiani, M., Mazzatenta, C., Rubegni, P., Andreassi, L., Idiopathic angiokeratoma corporis diffusum. Clin Exp Dermatol 22 (1997), 205–206.
-
(1997)
Clin Exp Dermatol
, vol.22
, pp. 205-206
-
-
Fimiani, M.1
Mazzatenta, C.2
Rubegni, P.3
Andreassi, L.4
-
85
-
-
84878623291
-
Angiokeratoma corporis diffusum in a patient with Hodgkin lymphoma: a new paraneoplastic skin manifestation?
-
85 Han, F., Wang, P., Li, Z., et al. Angiokeratoma corporis diffusum in a patient with Hodgkin lymphoma: a new paraneoplastic skin manifestation?. Br J Dermatol 168 (2013), 1351–1353.
-
(2013)
Br J Dermatol
, vol.168
, pp. 1351-1353
-
-
Han, F.1
Wang, P.2
Li, Z.3
-
86
-
-
84942826843
-
Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches
-
86 Di Meo, I., Lamperti, C., Tiranti, V., Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches. EMBO Mol Med 7 (2015), 1257–1266.
-
(2015)
EMBO Mol Med
, vol.7
, pp. 1257-1266
-
-
Di Meo, I.1
Lamperti, C.2
Tiranti, V.3
-
87
-
-
84924798837
-
The clinical approach to small fibre neuropathy and painful channelopathy
-
87 Themistocleous, A.C., Ramirez, J.D., Serra, J., Bennett, D.L., The clinical approach to small fibre neuropathy and painful channelopathy. Pract Neurol 14 (2014), 368–379.
-
(2014)
Pract Neurol
, vol.14
, pp. 368-379
-
-
Themistocleous, A.C.1
Ramirez, J.D.2
Serra, J.3
Bennett, D.L.4
-
88
-
-
0034427078
-
Angiokeratoma corporis diffusum (Anderson-Fabry's disease): a case report
-
88 Massi, D., Martinelli, F., Battini, M.L., et al. Angiokeratoma corporis diffusum (Anderson-Fabry's disease): a case report. J Eur Acad Dermatol Venereol 14 (2000), 127–130.
-
(2000)
J Eur Acad Dermatol Venereol
, vol.14
, pp. 127-130
-
-
Massi, D.1
Martinelli, F.2
Battini, M.L.3
-
89
-
-
1642455933
-
Sequelae of storage in Fabry disease—pathology and comparison with other lysosomal storage diseases
-
discussion 45
-
89 Elleder, M., Sequelae of storage in Fabry disease—pathology and comparison with other lysosomal storage diseases. Acta Paediatr Suppl 92 (2003), 46–53 discussion 45.
-
(2003)
Acta Paediatr Suppl
, vol.92
, pp. 46-53
-
-
Elleder, M.1
-
90
-
-
33644830752
-
Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement
-
90 Schiffmann, R., Rapkiewicz, A., Abu-Asab, M., et al. Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. Virchows Arch 448 (2006), 337–343.
-
(2006)
Virchows Arch
, vol.448
, pp. 337-343
-
-
Schiffmann, R.1
Rapkiewicz, A.2
Abu-Asab, M.3
-
91
-
-
49749106291
-
An autopsy case of Fabry disease with neuropathological investigation of the pathogenesis of associated dementia
-
91 Okeda, R., Nisihara, M., An autopsy case of Fabry disease with neuropathological investigation of the pathogenesis of associated dementia. Neuropathology 28 (2008), 532–540.
-
(2008)
Neuropathology
, vol.28
, pp. 532-540
-
-
Okeda, R.1
Nisihara, M.2
-
92
-
-
0036263495
-
Renal pathology in Fabry disease
-
92 Alroy, J., Sabnis, S., Kopp, J.B., Renal pathology in Fabry disease. J Am Soc Nephrol 13 (2002), S134–S138.
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. S134-S138
-
-
Alroy, J.1
Sabnis, S.2
Kopp, J.B.3
-
93
-
-
0034943172
-
Enhanced endothelium-dependent vasodilation in Fabry disease
-
93 Altarescu, G., Moore, D.F., Pursley, R., et al. Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 32 (2001), 1559–1562.
-
(2001)
Stroke
, vol.32
, pp. 1559-1562
-
-
Altarescu, G.1
Moore, D.F.2
Pursley, R.3
-
94
-
-
0035949721
-
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy
-
94 Moore, D.F., Scott, L.T., Gladwin, M.T., et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 104 (2001), 1506–1512.
-
(2001)
Circulation
, vol.104
, pp. 1506-1512
-
-
Moore, D.F.1
Scott, L.T.2
Gladwin, M.T.3
-
95
-
-
4744344117
-
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study
-
95 Moore, D.F., Ye, F., Brennan, M.L., et al. Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging 20 (2004), 674–683.
-
(2004)
J Magn Reson Imaging
, vol.20
, pp. 674-683
-
-
Moore, D.F.1
Ye, F.2
Brennan, M.L.3
-
96
-
-
84866548541
-
Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine
-
96 Rombach, S.M., van den Bogaard, B., de Groot, E., et al. Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine. Hypertension 60 (2012), 998–1005.
-
(2012)
Hypertension
, vol.60
, pp. 998-1005
-
-
Rombach, S.M.1
van den Bogaard, B.2
de Groot, E.3
-
97
-
-
0042882811
-
Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease
-
97 Stemper, B., Hilz, M.J., Postischemic cutaneous hyperperfusion in the presence of forearm hypoperfusion suggests sympathetic vasomotor dysfunction in Fabry disease. J Neurol 250 (2003), 970–976.
-
(2003)
J Neurol
, vol.250
, pp. 970-976
-
-
Stemper, B.1
Hilz, M.J.2
-
98
-
-
53749095321
-
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
-
98 Shen, J.S., Meng, X.L., Moore, D.F., et al. Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 95 (2008), 163–168.
-
(2008)
Mol Genet Metab
, vol.95
, pp. 163-168
-
-
Shen, J.S.1
Meng, X.L.2
Moore, D.F.3
-
99
-
-
84945476296
-
Increased oxidative stress contributes to cardiomyocyte dysfunction and death in patients with Fabry disease cardiomyopathy
-
99 Chimenti, C., Scopelliti, F., Vulpis, E., et al. Increased oxidative stress contributes to cardiomyocyte dysfunction and death in patients with Fabry disease cardiomyopathy. Hum Pathol 46 (2015), 1760–1768.
-
(2015)
Hum Pathol
, vol.46
, pp. 1760-1768
-
-
Chimenti, C.1
Scopelliti, F.2
Vulpis, E.3
-
100
-
-
0033950217
-
Profile of endothelial and leukocyte activation in Fabry patients
-
100 DeGraba, T., Azhar, S., Dignat-George, F., et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 47 (2000), 229–233.
-
(2000)
Ann Neurol
, vol.47
, pp. 229-233
-
-
DeGraba, T.1
Azhar, S.2
Dignat-George, F.3
-
101
-
-
34250809070
-
Elevated endothelial microparticles in Fabry children decreased after enzyme replacement therapy
-
101 Gelderman, M.P., Schiffmann, R., Simak, J., Elevated endothelial microparticles in Fabry children decreased after enzyme replacement therapy. Arterioscler Thromb Vasc Biol 27 (2007), e138–e139.
-
(2007)
Arterioscler Thromb Vasc Biol
, vol.27
, pp. e138-e139
-
-
Gelderman, M.P.1
Schiffmann, R.2
Simak, J.3
-
102
-
-
84940280306
-
Aspirin resistance in patients with impaired renal functions
-
102 Unal Aksu, H., Oner, E., Erturk, M., et al. Aspirin resistance in patients with impaired renal functions. Kardiol Pol 72 (2014), 331–338.
-
(2014)
Kardiol Pol
, vol.72
, pp. 331-338
-
-
Unal Aksu, H.1
Oner, E.2
Erturk, M.3
-
103
-
-
70349503926
-
Plasma markers of coagulation and endothelial activation in Fabry disease: impact of renal impairment
-
103 Vedder, A.C., Biro, E., Aerts, J.M., Nieuwland, R., Sturk, G., Hollak, C.E., Plasma markers of coagulation and endothelial activation in Fabry disease: impact of renal impairment. Nephrol Dial Transplant 24 (2009), 3074–3081.
-
(2009)
Nephrol Dial Transplant
, vol.24
, pp. 3074-3081
-
-
Vedder, A.C.1
Biro, E.2
Aerts, J.M.3
Nieuwland, R.4
Sturk, G.5
Hollak, C.E.6
-
104
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
104 Aerts, J.M., Groener, J.E., Kuiper, S., et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 105 (2008), 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
-
105
-
-
84898004609
-
Gene mutations versus clinically relevant phenotypes: lyso-gb3 defines Fabry disease
-
105 Niemann, M., Rolfs, A., Stork, S., et al. Gene mutations versus clinically relevant phenotypes: lyso-gb3 defines Fabry disease. Circ Cardiovasc Genet 7 (2014), 8–16.
-
(2014)
Circ Cardiovasc Genet
, vol.7
, pp. 8-16
-
-
Niemann, M.1
Rolfs, A.2
Stork, S.3
-
106
-
-
84930741305
-
Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry mice
-
106 Shen, J.S., Meng, X.L., Wight-Carter, M., et al. Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry mice. Hum Mol Genet 24 (2015), 3181–3191.
-
(2015)
Hum Mol Genet
, vol.24
, pp. 3181-3191
-
-
Shen, J.S.1
Meng, X.L.2
Wight-Carter, M.3
-
107
-
-
25444446897
-
The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women
-
107 Gupta, S., Ries, M., Kotsopoulos, S., Schiffmann, R., The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine 84 (2005), 261–268.
-
(2005)
Medicine
, vol.84
, pp. 261-268
-
-
Gupta, S.1
Ries, M.2
Kotsopoulos, S.3
Schiffmann, R.4
-
108
-
-
38849109999
-
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
-
108 Auray-Blais, C., Cyr, D., Ntwari, A., et al. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab 93 (2008), 331–340.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 331-340
-
-
Auray-Blais, C.1
Cyr, D.2
Ntwari, A.3
-
109
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: a randomized controlled trial
-
109 Schiffmann, R., Kopp, J.B., Austin, H.A. 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285 (2001), 2743–2749.
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin, H.A.3
-
110
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A—replacement therapy in Fabry's disease
-
110 Eng, C.M., Guffon, N., Wilcox, W.R., et al. Safety and efficacy of recombinant human alpha-galactosidase A—replacement therapy in Fabry's disease. N Engl J Med 345 (2001), 9–16.
-
(2001)
N Engl J Med
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
-
111
-
-
84897573302
-
Outcomes of patients treated through the Canadian Fabry disease initiative
-
111 Sirrs, S.M., Bichet, D.G., Casey, R., et al. Outcomes of patients treated through the Canadian Fabry disease initiative. Mol Genet Metab 111 (2014), 499–506.
-
(2014)
Mol Genet Metab
, vol.111
, pp. 499-506
-
-
Sirrs, S.M.1
Bichet, D.G.2
Casey, R.3
-
112
-
-
33846908304
-
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial
-
112 Banikazemi, M., Bultas, J., Waldek, S., et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146 (2007), 77–86.
-
(2007)
Ann Intern Med
, vol.146
, pp. 77-86
-
-
Banikazemi, M.1
Bultas, J.2
Waldek, S.3
-
113
-
-
34248190164
-
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
-
113 Germain, D.P., Waldek, S., Banikazemi, M., et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 18 (2007), 1547–1557.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1547-1557
-
-
Germain, D.P.1
Waldek, S.2
Banikazemi, M.3
-
114
-
-
31544456336
-
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting
-
114 Schiffmann, R., Ries, M., Timmons, M., Flaherty, J.T., Brady, R.O., Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21 (2006), 345–354.
-
(2006)
Nephrol Dial Transplant
, vol.21
, pp. 345-354
-
-
Schiffmann, R.1
Ries, M.2
Timmons, M.3
Flaherty, J.T.4
Brady, R.O.5
-
115
-
-
34248138939
-
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing
-
115 Schiffmann, R., Askari, H., Timmons, M., et al. Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J Am Soc Nephrol 18 (2007), 1576–1583.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1576-1583
-
-
Schiffmann, R.1
Askari, H.2
Timmons, M.3
-
116
-
-
34548474768
-
Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta
-
116 Tahir, H., Jackson, L.L., Warnock, D.G., Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol 18 (2007), 2609–2617.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 2609-2617
-
-
Tahir, H.1
Jackson, L.L.2
Warnock, D.G.3
-
117
-
-
84945443992
-
A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease
-
117 Schiffmann, R., Swift, C., Wang, X., Blankenship, D., Ries, M., A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease. J Inherit Metab Dis 38 (2015), 1129–1136.
-
(2015)
J Inherit Metab Dis
, vol.38
, pp. 1129-1136
-
-
Schiffmann, R.1
Swift, C.2
Wang, X.3
Blankenship, D.4
Ries, M.5
-
118
-
-
15044357727
-
Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)
-
118 Hoffmann, B., Garcia de Lorenzo, A., Mehta, A., Beck, M., Widmer, U., Ricci, R., Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 42 (2005), 247–252.
-
(2005)
J Med Genet
, vol.42
, pp. 247-252
-
-
Hoffmann, B.1
Garcia de Lorenzo, A.2
Mehta, A.3
Beck, M.4
Widmer, U.5
Ricci, R.6
-
119
-
-
19944375153
-
Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging study
-
119 Eto, Y., Ohashi, T., Utsunomiya, Y., et al. Enzyme replacement therapy in Japanese Fabry disease patients: the results of a phase 2 bridging study. J Inherit Metab Dis 28 (2005), 575–583.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 575-583
-
-
Eto, Y.1
Ohashi, T.2
Utsunomiya, Y.3
-
120
-
-
0344443401
-
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease
-
120 Schiffmann, R., Floeter, M.K., Dambrosia, J.M., et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 28 (2003), 703–710.
-
(2003)
Muscle Nerve
, vol.28
, pp. 703-710
-
-
Schiffmann, R.1
Floeter, M.K.2
Dambrosia, J.M.3
-
121
-
-
1842423556
-
Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy
-
121 Hilz, M.J., Brys, M., Marthol, H., Stemper, B., Dutsch, M., Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology 62 (2004), 1066–1072.
-
(2004)
Neurology
, vol.62
, pp. 1066-1072
-
-
Hilz, M.J.1
Brys, M.2
Marthol, H.3
Stemper, B.4
Dutsch, M.5
-
122
-
-
33745686659
-
Enzyme replacement therapy and intraepidermal innervation density in Fabry disease
-
122 Schiffmann, R., Hauer, P., Freeman, B., et al. Enzyme replacement therapy and intraepidermal innervation density in Fabry disease. Muscle Nerve 34 (2006), 53–56.
-
(2006)
Muscle Nerve
, vol.34
, pp. 53-56
-
-
Schiffmann, R.1
Hauer, P.2
Freeman, B.3
-
124
-
-
84930615574
-
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease
-
124 Germain, D.P., Charrow, J., Desnick, R.J., et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. J Med Genet 52 (2015), 353–358.
-
(2015)
J Med Genet
, vol.52
, pp. 353-358
-
-
Germain, D.P.1
Charrow, J.2
Desnick, R.J.3
-
125
-
-
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
-
125 Rombach, S.M., Smid, B.E., Linthorst, G.E., Dijkgraaf, M.G., Hollak, C.E., 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 37 (2014), 341–352.
-
(2014)
J Inherit Metab Dis
, vol.37
, pp. 341-352
-
-
Rombach, S.M.1
Smid, B.E.2
Linthorst, G.E.3
Dijkgraaf, M.G.4
Hollak, C.E.5
-
126
-
-
84875525202
-
Enzyme replacement therapy for Anderson-Fabry disease
-
126 El Dib, R.P., Nascimento, P., Pastores, G.M., Enzyme replacement therapy for Anderson-Fabry disease. Cochrane Database Syst Rev, 2, 2013, CD006663.
-
(2013)
Cochrane Database Syst Rev
, vol.2
, pp. CD006663
-
-
El Dib, R.P.1
Nascimento, P.2
Pastores, G.M.3
-
127
-
-
84911999718
-
Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study
-
127 Anderson, L.J., Wyatt, K.M., Henley, W., et al. Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study. J Inherit Metab Dis 37 (2014), 969–978.
-
(2014)
J Inherit Metab Dis
, vol.37
, pp. 969-978
-
-
Anderson, L.J.1
Wyatt, K.M.2
Henley, W.3
-
128
-
-
55249121867
-
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study
-
128 Buechner, S., Moretti, M., Burlina, A.P., et al. Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry 79 (2008), 1249–1254.
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, pp. 1249-1254
-
-
Buechner, S.1
Moretti, M.2
Burlina, A.P.3
-
129
-
-
84872458046
-
Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis
-
129 Alegra, T., Vairo, F., de Souza, M.V., Krug, B.C., Schwartz, I.V., Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis. Genet Mol Biol 35 (2012), 947–954.
-
(2012)
Genet Mol Biol
, vol.35
, pp. 947-954
-
-
Alegra, T.1
Vairo, F.2
de Souza, M.V.3
Krug, B.C.4
Schwartz, I.V.5
-
130
-
-
33846896857
-
Cellular and tissue distribution of intravenously administered agalsidase alfa
-
130 Murray, G.J., Anver, M.R., Kennedy, M.A., Quirk, J.M., Schiffmann, R., Cellular and tissue distribution of intravenously administered agalsidase alfa. Mol Genet Metab 90 (2007), 307–312.
-
(2007)
Mol Genet Metab
, vol.90
, pp. 307-312
-
-
Murray, G.J.1
Anver, M.R.2
Kennedy, M.A.3
Quirk, J.M.4
Schiffmann, R.5
-
131
-
-
41049103114
-
Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa
-
131 Ramaswami, U., Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa. Acta Paediatr Suppl 97 (2008), 38–40.
-
(2008)
Acta Paediatr Suppl
, vol.97
, pp. 38-40
-
-
Ramaswami, U.1
-
132
-
-
84954208512
-
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy
-
132 Warnock, D.G., Thomas, C.P., Vujkovac, B., et al. Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy. J Med Genet 52 (2015), 860–866.
-
(2015)
J Med Genet
, vol.52
, pp. 860-866
-
-
Warnock, D.G.1
Thomas, C.P.2
Vujkovac, B.3
-
133
-
-
84880089118
-
Kidney transplantation and enzyme replacement therapy in patients with Fabry disease
-
133 Cybulla, M., Kurschat, C., West, M., et al. Kidney transplantation and enzyme replacement therapy in patients with Fabry disease. J Nephrol 26 (2013), 645–651.
-
(2013)
J Nephrol
, vol.26
, pp. 645-651
-
-
Cybulla, M.1
Kurschat, C.2
West, M.3
-
134
-
-
0041418254
-
Use of gabapentin to reduce chronic neuropathic pain in Fabry disease
-
134 Ries, M., Mengel, E., Kutschke, G., et al. Use of gabapentin to reduce chronic neuropathic pain in Fabry disease. J Inherit Metab Dis 26 (2003), 413–414.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 413-414
-
-
Ries, M.1
Mengel, E.2
Kutschke, G.3
-
135
-
-
84928018148
-
Pressure for drug development in lysosomal storage disorders—a quantitative analysis thirty years beyond the US orphan drug act
-
135 Mechler, K., Mountford, W.K., Hoffmann, G.F., Ries, M., Pressure for drug development in lysosomal storage disorders—a quantitative analysis thirty years beyond the US orphan drug act. Orphanet J Rare Dis, 10, 2015, 46.
-
(2015)
Orphanet J Rare Dis
, vol.10
, pp. 46
-
-
Mechler, K.1
Mountford, W.K.2
Hoffmann, G.F.3
Ries, M.4
-
136
-
-
84934435392
-
Coformulation of a novel human alpha-galactosidase A with the pharmacological chaperone AT1001 leads to improved substrate reduction in Fabry mice
-
136 Xu, S., Lun, Y., Brignol, N., et al. Coformulation of a novel human alpha-galactosidase A with the pharmacological chaperone AT1001 leads to improved substrate reduction in Fabry mice. Mol Ther 23 (2015), 1169–1181.
-
(2015)
Mol Ther
, vol.23
, pp. 1169-1181
-
-
Xu, S.1
Lun, Y.2
Brignol, N.3
-
137
-
-
84981742779
-
Treatment of Fabry's disease with the pharmacologic chaperone migalastat
-
137 Germain, D.P., Hughes, D.A., Nicholls, K., et al. Treatment of Fabry's disease with the pharmacologic chaperone migalastat. N Engl J Med 375 (2016), 545–555.
-
(2016)
N Engl J Med
, vol.375
, pp. 545-555
-
-
Germain, D.P.1
Hughes, D.A.2
Nicholls, K.3
-
138
-
-
84863430009
-
Lentivector transduction improves outcomes over transplantation of human HSCs alone in NOD/SCID/Fabry mice
-
138 Pacienza, N., Yoshimitsu, M., Mizue, N., et al. Lentivector transduction improves outcomes over transplantation of human HSCs alone in NOD/SCID/Fabry mice. Mol Ther 20 (2012), 1454–1461.
-
(2012)
Mol Ther
, vol.20
, pp. 1454-1461
-
-
Pacienza, N.1
Yoshimitsu, M.2
Mizue, N.3
|