-
1
-
-
53749104902
-
Fabry's disease
-
Zarate YA, Hopkin RJ (2008) Fabry's disease. Lancet 372: 1427-1435.
-
(2008)
Lancet
, vol.372
, pp. 1427-1435
-
-
Zarate, Y.A.1
Hopkin, R.J.2
-
2
-
-
38049036770
-
Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
-
Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, et al. (2008) Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 93: 112-128.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 112-128
-
-
Wilcox, W.R.1
Oliveira, J.P.2
Hopkin, R.J.3
Ortiz, A.4
Banikazemi, M.5
-
3
-
-
0034754467
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
-
MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38: 769-775.
-
(2001)
J Med Genet
, vol.38
, pp. 769-775
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
4
-
-
33646679166
-
Disease manifestations and X inactivation in heterozygous females with Fabry disease
-
Maier EM, Osterrieder S, Whybra C, Ries M, Gal A, et al. (2006) Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr Suppl 95: 30-38.
-
(2006)
Acta Paediatr Suppl
, vol.95
, pp. 30-38
-
-
Maier, E.M.1
Osterrieder, S.2
Whybra, C.3
Ries, M.4
Gal, A.5
-
5
-
-
33846265851
-
Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life
-
Wang RY, Lelis A, Mirocha J, Wilcox WR (2007) Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 9: 34-45.
-
(2007)
Genet Med
, vol.9
, pp. 34-45
-
-
Wang, R.Y.1
Lelis, A.2
Mirocha, J.3
Wilcox, W.R.4
-
6
-
-
57349113073
-
Disease rarity, carrier status, and gender: A triple disadvantage for women with Fabry disease
-
Gibas AL, Klatt R, Johnson J, Clarke JT, Katz J (2008) Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease. J Genet Couns 17: 528-537.
-
(2008)
J Genet Couns
, vol.17
, pp. 528-537
-
-
Gibas, A.L.1
Klatt, R.2
Johnson, J.3
Clarke, J.T.4
Katz, J.5
-
7
-
-
33645781485
-
Natural history of Fabry disease in females in the Fabry Outcome Survey
-
Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, et al. (2006) Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 43: 347-352.
-
(2006)
J Med Genet
, vol.43
, pp. 347-352
-
-
Deegan, P.B.1
Baehner, A.F.2
Barba Romero, M.A.3
Hughes, D.A.4
Kampmann, C.5
-
8
-
-
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, et al. (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 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
-
9
-
-
84873025518
-
Podocyte biology and pathogenesis of kidney disease
-
Reiser J, Sever S (2013) Podocyte biology and pathogenesis of kidney disease. Annu Rev Med 64: 357-366.
-
(2013)
Annu Rev Med
, vol.64
, pp. 357-366
-
-
Reiser, J.1
Sever, S.2
-
10
-
-
79952192786
-
Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease
-
Najafian B, Svarstad E, Bostad L, Gubler MC, Tondel C, et al. (2011) Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int 79: 663-670.
-
(2011)
Kidney Int
, vol.79
, pp. 663-670
-
-
Najafian, B.1
Svarstad, E.2
Bostad, L.3
Gubler, M.C.4
Tondel, C.5
-
11
-
-
0036436320
-
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
-
Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, et al. (2002) Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62: 1933-1946.
-
(2002)
Kidney Int
, vol.62
, pp. 1933-1946
-
-
Thurberg, B.L.1
Rennke, H.2
Colvin, R.B.3
Dikman, S.4
Gordon, R.E.5
-
12
-
-
34248190164
-
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
-
Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, et al. (2007) Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 18: 1547-1557.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1547-1557
-
-
Germain, D.P.1
Waldek, S.2
Banikazemi, M.3
Bushinsky, D.A.4
Charrow, J.5
-
13
-
-
12344256754
-
Pathways to nephron loss starting from glomerular diseases-insights from animal models
-
Kriz W, LeHir M (2005) Pathways to nephron loss starting from glomerular diseases-insights from animal models. Kidney Int 67: 404-419.
-
(2005)
Kidney Int
, vol.67
, pp. 404-419
-
-
Kriz, W.1
LeHir, M.2
-
14
-
-
79960113480
-
Podocyte injury damages other podocytes
-
Matsusaka T, Sandgren E, Shintani A, Kon V, Pastan I, et al. (2011) Podocyte injury damages other podocytes. J Am Soc Nephrol 22: 1275-1285.
-
(2011)
J Am Soc Nephrol
, vol.22
, pp. 1275-1285
-
-
Matsusaka, T.1
Sandgren, E.2
Shintani, A.3
Kon, V.4
Pastan, I.5
-
15
-
-
84871906107
-
Agalsidase benefits renal histology in young patients with Fabry disease
-
Tondel C, Bostad L, Larsen KK, Hirth A, Vikse BE, et al. (2013) Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 24: 137-148.
-
(2013)
J Am Soc Nephrol
, vol.24
, pp. 137-148
-
-
Tondel, C.1
Bostad, L.2
Larsen, K.K.3
Hirth, A.4
Vikse, B.E.5
-
16
-
-
84874899789
-
Fabry nephropathy: Indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice
-
Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, et al. (2013) Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. Nephrol Dial Transplant 28: 505-517.
-
(2013)
Nephrol Dial Transplant
, vol.28
, pp. 505-517
-
-
Terryn, W.1
Cochat, P.2
Froissart, R.3
Ortiz, A.4
Pirson, Y.5
-
19
-
-
84874040904
-
The podocyte's response to stress: The enigma of foot process effacement
-
Kriz W, Shirato I, Nagata M, LeHir M, Lemley KV (2013) The podocyte's response to stress: the enigma of foot process effacement. Am J Physiol Renal Physiol 304: F333-347.
-
(2013)
Am J Physiol Renal Physiol
, vol.304
, pp. F333-F347
-
-
Kriz, W.1
Shirato, I.2
Nagata, M.3
LeHir, M.4
Lemley, K.V.5
-
20
-
-
79958856610
-
Quantitating glomerular endothelial fenestration: An unbiased stereological approach
-
Suppl 1
-
Najafian B, Mauer M (2011) Quantitating glomerular endothelial fenestration: an unbiased stereological approach. Am J Nephrol 33 Suppl 1: 34-39.
-
(2011)
Am J Nephrol
, vol.33
, pp. 34-39
-
-
Najafian, B.1
Mauer, M.2
-
21
-
-
34547611903
-
Podocyte detachment and reduced glomerular capillary endothelial fenestration in human type 1 diabetic nephropathy
-
Toyoda M, Najafian B, Kim Y, Caramori ML, Mauer M (2007) Podocyte detachment and reduced glomerular capillary endothelial fenestration in human type 1 diabetic nephropathy. Diabetes 56: 2155-2160.
-
(2007)
Diabetes
, vol.56
, pp. 2155-2160
-
-
Toyoda, M.1
Najafian, B.2
Kim, Y.3
Caramori, M.L.4
Mauer, M.5
-
22
-
-
57049180117
-
Podocyte foot process effacement as a diagnostic tool in focal segmental glomerulosclerosis
-
Deegens JK, Dijkman HB, Borm GF, Steenbergen EJ, van den Berg JG, et al. (2008) Podocyte foot process effacement as a diagnostic tool in focal segmental glomerulosclerosis. Kidney Int 74: 1568-1576.
-
(2008)
Kidney Int
, vol.74
, pp. 1568-1576
-
-
Deegens, J.K.1
Dijkman, H.B.2
Borm, G.F.3
Steenbergen, E.J.4
Van Den Berg, J.G.5
-
23
-
-
0032920291
-
Complement-mediated injury reversibly disrupts glomerular epithelial cell actin microfilaments and focal adhesions
-
Topham PS, Haydar SA, Kuphal R, Lightfoot JD, Salant DJ (1999) Complement-mediated injury reversibly disrupts glomerular epithelial cell actin microfilaments and focal adhesions. Kidney Int 55: 1763-1775.
-
(1999)
Kidney Int
, vol.55
, pp. 1763-1775
-
-
Topham, P.S.1
Haydar, S.A.2
Kuphal, R.3
Lightfoot, J.D.4
Salant, D.J.5
-
24
-
-
0017872842
-
Early renal changes in hemizygous and heterozygous patients with Fabry's disease
-
Gubler MC, Lenoir G, Grunfeld JP, Ulmann A, Droz D, et al. (1978) Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int 13: 223-235.
-
(1978)
Kidney Int
, vol.13
, pp. 223-235
-
-
Gubler, M.C.1
Lenoir, G.2
Grunfeld, J.P.3
Ulmann, A.4
Droz, D.5
-
25
-
-
52649095922
-
Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy
-
Valbuena C, Carvalho E, Bustorff M, Ganhao M, Relvas S, et al. (2008) Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy. Virchows Arch 453: 329-338.
-
(2008)
Virchows Arch
, vol.453
, pp. 329-338
-
-
Valbuena, C.1
Carvalho, E.2
Bustorff, M.3
Ganhao, M.4
Relvas, S.5
-
26
-
-
20044362239
-
From the periphery of the glomerular capillary wall toward the center of disease: Podocyte injury comes of age in diabetic nephropathy
-
Wolf G, Chen S, Ziyadeh FN (2005) From the periphery of the glomerular capillary wall toward the center of disease: podocyte injury comes of age in diabetic nephropathy. Diabetes 54: 1626-1634.
-
(2005)
Diabetes
, vol.54
, pp. 1626-1634
-
-
Wolf, G.1
Chen, S.2
Ziyadeh, F.N.3
-
27
-
-
77952713435
-
Expression of the disease on female carriers of X-linked lysosomal disorders: A brief review
-
Pinto LL, Vieira TA, Giugliani R, Schwartz IV (2010) Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review. Orphanet J - Rare Dis 5: 14.
-
(2010)
Orphanet J - Rare Dis
, vol.5
, pp. 14
-
-
Pinto, L.L.1
Vieira, T.A.2
Giugliani, R.3
Schwartz, I.V.4
-
28
-
-
33645082502
-
The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases
-
Migeon BR (2006) The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases. JAMA 295: 1428-1433.
-
(2006)
Jama
, vol.295
, pp. 1428-1433
-
-
Migeon, B.R.1
-
29
-
-
42949119819
-
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
-
Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, et al. (2008) Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 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
-
30
-
-
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, et al. (2004) 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)
Clin Genet
, vol.65
, pp. 299-307
-
-
Whybra, C.1
Kampmann, C.2
Krummenauer, F.3
Ries, M.4
Mengel, E.5
-
31
-
-
23844484627
-
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population
-
Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, et al. (2005) Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med (Berl) 83: 647-654.
-
(2005)
J Mol Med (Berl)
, vol.83
, pp. 647-654
-
-
Dobrovolny, R.1
Dvorakova, L.2
Ledvinova, J.3
Magage, S.4
Bultas, J.5
-
33
-
-
84861168490
-
Renal outcomes of agalsidase beta treatment for Fabry disease: Role of proteinuria and timing of treatment initiation
-
Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, et al. (2012) Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant 27: 1042-1049.
-
(2012)
Nephrol Dial Transplant
, vol.27
, pp. 1042-1049
-
-
Warnock, D.G.1
Ortiz, A.2
Mauer, M.3
Linthorst, G.E.4
Oliveira, J.P.5
-
35
-
-
0033786533
-
Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes
-
Ashton-Prolla P, Tong B, Shabbeer J, Astrin KH, Eng CM, et al. (2000) Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 48: 227-235.
-
(2000)
J Investig Med
, vol.48
, pp. 227-235
-
-
Ashton-Prolla, P.1
Tong, B.2
Shabbeer, J.3
Astrin, K.H.4
Eng, C.M.5
-
36
-
-
0030926514
-
Fabry disease: Thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes
-
Eng CM, Ashley GA, Burgert TS, Enriquez AL, D'Souza M, et al. (1997) Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 3: 174-182.
-
(1997)
Mol Med
, vol.3
, pp. 174-182
-
-
Eng, C.M.1
Ashley, G.A.2
Burgert, T.S.3
Enriquez, A.L.4
D'Souza, M.5
-
37
-
-
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, et al. (2005) Fabry disease in patients with end-stage renal failure: the potential benefits of screening. Nephron Clin Pract 101: c33-38.
-
(2005)
Nephron Clin Pract
, vol.101
, pp. c33-c38
-
-
Bekri, S.1
Enica, A.2
Ghafari, T.3
Plaza, G.4
Champenois, I.5
-
38
-
-
84880183995
-
A missense mutation of the alpha- galactosidase a gene in a chinese family of fabry disease with renal failure
-
Wang C, Wang Y, Zhu F, Xiong J (2013) A Missense Mutation of the alpha- Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure. Kidney Blood Press Res 37: 221-228.
-
(2013)
Kidney Blood Press Res
, vol.37
, pp. 221-228
-
-
Wang, C.1
Wang, Y.2
Zhu, F.3
Xiong, J.4
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