-
1
-
-
0000889058
-
Alpha-Galactosidase A deficiency: Fabry disease
-
Scriver C, Beaudet A, Sly W, Valle D eds, McGraw-Hill, New York
-
Desnick RJ, Ioannou YA, Eng CM (2001) Alpha-Galactosidase A deficiency: Fabry disease. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3733-3774
-
(2001)
The Metabolic Bases of Inherited Disease, 8th Edn
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
2
-
-
0036122659
-
Natural history of Fabry renal disease: Influence of alpha-galactosidase A activity and genetic mutations on clinical course
-
Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G et al (2002) Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81(2):122-138
-
(2002)
Medicine (Baltimore)
, vol.81
, Issue.2
, 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
-
3
-
-
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 et al (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34(3):236-242
-
(2004)
Eur J Clin Invest
, vol.34
, Issue.3
, pp. 236-242
-
-
Mehta, A.1
Ricci, R.2
Widmer, U.3
Dehout, F.4
Garcia De Lorenzo, A.5
Kampmann, C.6
-
4
-
-
33645781485
-
Natural history of Fabry disease in females in the Fabry Outcome Survey
-
Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M (2006) Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 43(4):347-352
-
(2006)
J Med Genet
, vol.43
, Issue.4
, pp. 347-352
-
-
Deegan, P.B.1
Baehner, A.F.2
Barba Romero, M.A.3
Hughes, D.A.4
Kampmann, C.5
Beck, M.6
-
5
-
-
44449143398
-
Nephropathy in males and females with Fabry disease: Cross-sectional description of patients before treatment with enzyme replacement therapy
-
Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C (2008) Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 9(23):1600-1607
-
(2008)
Nephrol Dial Transplant
, vol.9
, Issue.23
, pp. 1600-1607
-
-
Ortiz, A.1
Oliveira, J.P.2
Waldek, S.3
Warnock, D.G.4
Cianciaruso, B.5
Wanner, C.6
-
6
-
-
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, Feldt-Rasmussen U et al (2008) Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry. Mol Genet Metab 93(2):112-128
-
(2008)
Mol Genet Metab
, vol.93
, Issue.2
, pp. 112-128
-
-
Wilcox, W.R.1
Oliveira, J.P.2
Hopkin, R.J.3
Ortiz, A.4
Banikazemi, M.5
Feldt-Rasmussen, U.6
-
7
-
-
85015409072
-
Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease
-
003 DOI 10.1007/s10545-007-0740-6
-
Kobayashi M, Ohashi T, Sakuma M, Ida H, Eto Y (2008) Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease. J Inherit Metab Dis online report #003 DOI 10.1007/s10545-007-0740-6
-
(2008)
J Inherit Metab Dis Online Report
-
-
Kobayashi, M.1
Ohashi, T.2
Sakuma, M.3
Ida, H.4
Eto, Y.5
-
8
-
-
67651123138
-
Fabry disease: Progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
-
Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S et al (2009) Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 24(7):2102-2111
-
(2009)
Nephrol Dial Transplant
, vol.24
, Issue.7
, pp. 2102-2111
-
-
Schiffmann, R.1
Warnock, D.G.2
Banikazemi, M.3
Bultas, J.4
Linthorst, G.E.5
Packman, S.6
-
9
-
-
67651111995
-
Nephropathy in Fabry disease: The importance of early diagnosis and testing in high-risk populations
-
Oqvist B, Brenner BM, Oliveira JP, Ortiz A, Schaefer R, Svarstad E et al (2009) Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations. Nephrol Dial Transplant 24(6):1736-1743
-
(2009)
Nephrol Dial Transplant
, vol.24
, Issue.6
, pp. 1736-1743
-
-
Oqvist, B.1
Brenner, B.M.2
Oliveira, J.P.3
Ortiz, A.4
Schaefer, R.5
Svarstad, E.6
-
10
-
-
78651001239
-
Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; Two autopsy reports
-
Pompen AW, Ruiter M, Wyers HJ (1947) Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports. Acta Med Scand 128(3):234-255
-
(1947)
Acta Med Scand
, vol.128
, Issue.3
, pp. 234-255
-
-
Pompen, A.W.1
Ruiter, M.2
Wyers, H.J.3
-
11
-
-
0000368888
-
Zur Pathogenese des Angiokeratoma corporis diffusum Fabry mit cardio vasorenalem symptomenkomplex [Article in German]
-
Scriba K (1950) Zur Pathogenese des Angiokeratoma corporis diffusum Fabry mit cardio vasorenalem symptomenkomplex [Article in German]. Verhandlg Deutsch Path Gesellsch 34:221-226
-
(1950)
Verhandlg Deutsch Path Gesellsch
, vol.34
, pp. 221-226
-
-
Scriba, K.1
-
12
-
-
12244274857
-
Angiokeratoma corporis diffusum universale (Fabry) with cardio-vaso-renal symptom complex as general disease (Article in German
-
Hornbostel H, Spier W, Koch H (1951) Angiokeratoma corporis diffusum universale (Fabry) with cardio-vaso-renal symptom complex as general disease (Article in German). Arztl Wochensch 6(3):49-55
-
(1951)
Arztl Wochensch
, vol.6
, Issue.3
, pp. 49-55
-
-
Hornbostel, H.1
Spier, W.2
Koch, H.3
-
13
-
-
12244289154
-
Fabry's disease (angiokeratoma corporis diffusum universale). An unusual syndrome with multisystem involvement and unique skin manifestations
-
Karr WJ Jr. (1959) Fabry's disease (angiokeratoma corporis diffusum universale). An unusual syndrome with multisystem involvement and unique skin manifestations. Am J Med 27:829-835
-
(1959)
Am J Med
, vol.27
, pp. 829-835
-
-
Karr, Jr.W.J.1
-
14
-
-
73649168584
-
Angiokeratoma corporis diffusum. A clinical study of eight affected families
-
Wise D, Wallace HJ, Jellinek EH (1962) Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med 31:177-206
-
(1962)
Q J Med
, vol.31
, pp. 177-206
-
-
Wise, D.1
Wallace, H.J.2
Jellinek, E.H.3
-
15
-
-
0014241223
-
Angiokeratoma corporis diffusum Fabry
-
De Groot WP (1968) Angiokeratoma corporis diffusum Fabry. Dermatologica 136(5): 432-433
-
(1968)
Dermatologica
, vol.136
, Issue.5
, pp. 432-433
-
-
De Groot, W.P.1
-
16
-
-
0000130432
-
The renal lesion in angiokeratoma corporis diffusum
-
Colley JR, Miller DL, Hutt MS, Wallace HJ, De Wardener HE (1958) The renal lesion in angiokeratoma corporis diffusum. Br Med J 1(5082):1266-1268
-
(1958)
Br Med J
, vol.1
, Issue.5082
, pp. 1266-1268
-
-
Colley, J.R.1
Miller, D.L.2
Hutt, M.S.3
Wallace, H.J.4
De Wardener, H.E.5
-
17
-
-
0000217430
-
Angokeratoma corporis diffusum universale (hereditary dystropic lipidosis
-
Rahman AN, Simeone FA, Hackel DB, Hall PW III, Hirsch EZ, Harris JW (1961) Angokeratoma corporis diffusum universale (hereditary dystropic lipidosis). Trans Am Assoc Physicians 74:366-377
-
(1961)
Trans Am Assoc Physicians
, vol.74
, pp. 366-377
-
-
Rahman, A.N.1
Simeone, F.A.2
Hackel, D.B.3
Hall III, P.W.4
Hirsch, E.Z.5
Harris, J.W.6
-
18
-
-
0000935857
-
Angiokeratoma corporis diffusum Fabry
-
De Groot WP (1964) Angiokeratoma corporis diffusum Fabry. Dermatologica 128: 321-349
-
(1964)
Dermatologica
, vol.128
, pp. 321-349
-
-
De Groot, W.P.1
-
19
-
-
0014055398
-
Angiokeratoma corporis diffusum universale (Fabry's disease) in female subjects
-
Burda CD, Winder PR (1967) Angiokeratoma corporis diffusum universale (Fabry's disease) in female subjects. Am J Med 42(2):293-301
-
(1967)
Am J Med
, vol.42
, Issue.2
, pp. 293-301
-
-
Burda, C.D.1
Winder, P.R.2
-
20
-
-
0015209851
-
Ceramide trihexosidosis (Fabry's disease) without skin lesions
-
Clarke JT, Knaack J, Crawhall JC, Wolfe LS (1971) Ceramide trihexosidosis (Fabry's disease) without skin lesions. N Engl J Med 284(5):233-235
-
(1971)
N Engl J Med
, vol.284
, Issue.5
, pp. 233-235
-
-
Clarke, J.T.1
Knaack, J.2
Crawhall, J.C.3
Wolfe, L.S.4
-
21
-
-
47749085854
-
Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes
-
Kitagawa T, Suzuki K, Ishige N, Ohashi T, Kobayashi M, Eto Y et al (2008) Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes. Pediatr Nephrol 23(9):1461-1471
-
(2008)
Pediatr Nephrol
, vol.23
, Issue.9
, pp. 1461-1471
-
-
Kitagawa, T.1
Suzuki, K.2
Ishige, N.3
Ohashi, T.4
Kobayashi, M.5
Eto, Y.6
-
22
-
-
44449115633
-
Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults
-
Ortiz A, Oliveira JP, Wanner C, Brenner BM, Waldek S, Warnock DG (2008) Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults. Nat Clin Pract Nephrol 4(6):327-336
-
(2008)
Nat Clin Pract Nephrol
, vol.4
, Issue.6
, pp. 327-336
-
-
Ortiz, A.1
Oliveira, J.P.2
Wanner, C.3
Brenner, B.M.4
Waldek, S.5
Warnock, D.G.6
-
23
-
-
77950360034
-
A case of minimal change disease in a Fabry patient
-
Zarate YA, Patterson L, Yin H, Hopkin RJ (2009) A case of minimal change disease in a Fabry patient. Pediatr Nephrol 25(3):553-556
-
(2009)
Pediatr Nephrol
, vol.25
, Issue.3
, pp. 553-556
-
-
Zarate, Y.A.1
Patterson, L.2
Yin, H.3
Hopkin, R.J.4
-
24
-
-
0031054175
-
Subclinical Fabry's disease occurring in the context of IgA nephropathy
-
Kawamura O, Sakuraba H, Itoh K, Suzuki Y, Doi M, Kuwabara H et al (1997) Subclinical Fabry's disease occurring in the context of IgA nephropathy. Clin Nephrol 47(2): 71-75
-
(1997)
Clin Nephrol
, vol.47
, Issue.2
, pp. 71-75
-
-
Kawamura, O.1
Sakuraba, H.2
Itoh, K.3
Suzuki, Y.4
Doi, M.5
Kuwabara, H.6
-
25
-
-
32944477237
-
Fabry nephropathy in a female with superposed IgA glomerulonephritis [in Italian]
-
Pisani A, Sessa A, Sabbatini M, Andreucci MV, Fusco C, Balletta M et al (2005) Fabry nephropathy in a female with superposed IgA glomerulonephritis [in Italian]. G Ital Nefrol 22(4):385-389
-
(2005)
G Ital Nefrol
, vol.22
, Issue.4
, pp. 385-389
-
-
Pisani, A.1
Sessa, A.2
Sabbatini, M.3
Andreucci, M.V.4
Fusco, C.5
Balletta, M.6
-
26
-
-
33747011065
-
IgA nephropathy in two adolescent sisters heterozygous for Fabry disease
-
Whybra C, Schwarting A, Kriegsmann J, Gal A, Mengel E, Kampmann C et al (2006) IgA nephropathy in two adolescent sisters heterozygous for Fabry disease. Pediatr Nephrol 21(9):1251-1256
-
(2006)
Pediatr Nephrol
, vol.21
, Issue.9
, pp. 1251-1256
-
-
Whybra, C.1
Schwarting, A.2
Kriegsmann, J.3
Gal, A.4
Mengel, E.5
Kampmann, C.6
-
27
-
-
52649095922
-
Kidney biospy findings in heterozygous Fabry disease females with early nephropathy
-
Valbuena C, Carvalho E, Bustorff M, Ganhão M, Relvas S, Nogueira R et al (2008) Kidney biospy findings in heterozygous Fabry disease females with early nephropathy. Virchows Arch 453(4):329-338
-
(2008)
Virchows Arch
, vol.453
, Issue.4
, pp. 329-338
-
-
Valbuena, C.1
Carvalho, E.2
Bustorff, M.3
Ganhão, M.4
Relvas, S.5
Nogueira, R.6
-
28
-
-
0035156739
-
Coexistence of Fabry's disease and necrotizing and crescentic glomerulonephritis
-
Singh HK, Nickeleit V, Kriegsmann J, Harris AA, Jennette JC, Mihatsch MJ (2001) Coexistence of Fabry's disease and necrotizing and crescentic glomerulonephritis. Clin Nephrol 55(1):73-79
-
(2001)
Clin Nephrol
, vol.55
, Issue.1
, pp. 73-79
-
-
Singh, H.K.1
Nickeleit, V.2
Kriegsmann, J.3
Harris, A.A.4
Jennette, J.C.5
Mihatsch, M.J.6
-
29
-
-
0036420135
-
Crescentic glomerulonephri-tis in a patient with heterozygous Fabry's disease
-
Shimazu K, Tomiyoshi Y, Aoki S, Sakemi T, Sugihara H (2002) Crescentic glomerulonephri-tis in a patient with heterozygous Fabry's disease. Nephron 92(2):456-458
-
(2002)
Nephron
, vol.92
, Issue.2
, pp. 456-458
-
-
Shimazu, K.1
Tomiyoshi, Y.2
Aoki, S.3
Sakemi, T.4
Sugihara, H.5
-
30
-
-
0344442240
-
Fabry's disease, glomerulonephritis with crescentic and granulomatous interstitial nephritis. Case of one family [in German]
-
Kriegsmann J, Otto M, Wandel E, Schwarting A, Faust J, Hansen T et al (2003) Fabry's disease, glomerulonephritis with crescentic and granulomatous interstitial nephritis. Case of one family [in German]. Pathologe 24(6):439-443
-
(2003)
Pathologe
, vol.24
, Issue.6
, pp. 439-443
-
-
Kriegsmann, J.1
Otto, M.2
Wandel, E.3
Schwarting, A.4
Faust, J.5
Hansen, T.6
-
31
-
-
0020582130
-
Kidney involvement in systemic lupus erythemato-sus and Fabry's disease
-
Rosenmann E, Kobrin I, Cohen T (1983) Kidney involvement in systemic lupus erythemato-sus and Fabry's disease. Nephron 34(3):180-184
-
(1983)
Nephron
, vol.34
, Issue.3
, pp. 180-184
-
-
Rosenmann, E.1
Kobrin, I.2
Cohen, T.3
-
32
-
-
0026951828
-
A case of Fabry's disease associated with lupus nephritis [in Japenese]
-
Majima K, Ishizaki T, Inoue T, Hori Y, Egami J, Oohara A et al (1992) A case of Fabry's disease associated with lupus nephritis [in Japenese]. Nippon Jinzo Gakkai Shi 34(11): 1189-1194
-
(1992)
Nippon Jinzo Gakkai Shi
, vol.34
, Issue.11
, pp. 1189-1194
-
-
Majima, K.1
Ishizaki, T.2
Inoue, T.3
Hori, Y.4
Egami, J.5
Oohara, A.6
-
33
-
-
4344633906
-
Parapelvic kidney cysts: A distinguishing feature with high prevalence in Fabry disease
-
Ries M, Bettis KE, Choyke P, Kopp JB, Austin HA III, Brady RO et al (2004) Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease. Kidney Int 66(3):978-982
-
(2004)
Kidney Int
, vol.66
, Issue.3
, pp. 978-982
-
-
Ries, M.1
Bettis, K.E.2
Choyke, P.3
Kopp, J.B.4
Austin III, H.A.5
Brady, R.O.6
-
34
-
-
0021066103
-
Silicon nephropathy mimicking Fabry's disease
-
Banks DE, Milutinovic J, Desnick RJ, Grabowski GA, Lapp NL, Boehlecke BA (1983) Silicon nephropathy mimicking Fabry's disease. Am J Nephrol 3(5):279-284
-
(1983)
Am J Nephrol
, vol.3
, Issue.5
, 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
-
35
-
-
36048963312
-
A wild zebra chase
-
Woywodt A, Hellweg S, Schwarz A, Schaefer RM, Mengel M (2007) A wild zebra chase. Nephrol Dial Transplant 22(10):3074-3077
-
(2007)
Nephrol Dial Transplant
, vol.22
, Issue.10
, pp. 3074-3077
-
-
Woywodt, A.1
Hellweg, S.2
Schwarz, A.3
Schaefer, R.M.4
Mengel, M.5
-
36
-
-
0037343474
-
Chloroquine-induced phospholipidosis of the kidney mimicking Fabry's disease: Case report and review of the literature
-
Muller-Hocker J, Schmid H, Weiss M, Dendorfer U, Braun GS (2003) Chloroquine-induced phospholipidosis of the kidney mimicking Fabry's disease: case report and review of the literature. Hum Pathol 34(3):285-289
-
(2003)
Hum Pathol
, vol.34
, Issue.3
, pp. 285-289
-
-
Muller-Hocker, J.1
Schmid, H.2
Weiss, M.3
Dendorfer, U.4
Braun, G.S.5
-
37
-
-
18744415726
-
Chloroquine-induced lipidosis mimicking Fabry disease
-
Albay D, Adler SG, Philipose J, Calescibetta CC, Romansky SG, Cohen AH (2005) Chloroquine-induced lipidosis mimicking Fabry disease. Mod Pathol 18(5):733-738
-
(2005)
Mod Pathol
, vol.18
, Issue.5
, pp. 733-738
-
-
Albay, D.1
Adler, S.G.2
Philipose, J.3
Calescibetta, C.C.4
Romansky, S.G.5
Cohen, A.H.6
-
38
-
-
33750984779
-
Iatrogenic phospho-lipidosis mimicking Fabry disease
-
Bracamonte ER, Kowalewska J, Starr J, Gitomer J, Alpers CE (2006) Iatrogenic phospho-lipidosis mimicking Fabry disease. Am J Kidney Dis 48(5):844-850
-
(2006)
Am J Kidney Dis
, vol.48
, Issue.5
, pp. 844-850
-
-
Bracamonte, E.R.1
Kowalewska, J.2
Starr, J.3
Gitomer, J.4
Alpers, C.E.5
-
39
-
-
0018080546
-
Myeloid bodies in the renal tubules of humans: Relationship to gentamicin therapy
-
Houghton DC, Campbell-Boswell MV, Bennett WM, Porter GA, Brooks RE (1978) Myeloid bodies in the renal tubules of humans: relationship to gentamicin therapy. Clin Nephrol 10(4):140-145
-
(1978)
Clin Nephrol
, vol.10
, Issue.4
, pp. 140-145
-
-
Houghton, D.C.1
Campbell-Boswell, M.V.2
Bennett, W.M.3
Porter, G.A.4
Brooks, R.E.5
-
40
-
-
69849103601
-
Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease
-
Ferreira S, Valbuena C, Carvalho F, Oliveira JP (2009) Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. Hum Genet 126(2):352
-
(2009)
Hum Genet
, vol.126
, Issue.2
, pp. 352
-
-
Ferreira, S.1
Valbuena, C.2
Carvalho, F.3
Oliveira, J.P.4
-
41
-
-
0036147094
-
Enzyme replacement therapy for Fabry disease, an inherited nephropathy
-
Desnick RJ, Banikazemi M, Wasserstein M (2002) Enzyme replacement therapy for Fabry disease, an inherited nephropathy. Clin Nephrol 57(1):1-8
-
(2002)
Clin Nephrol
, vol.57
, Issue.1
, pp. 1-8
-
-
Desnick, R.J.1
Banikazemi, M.2
Wasserstein, M.3
-
42
-
-
0021240035
-
Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease
-
Chatterjee S, Gupta P, Pyeritz RE, Kwiterovich PO Jr. (1984) Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease. Am J Clin Pathol 82(1):24-28
-
(1984)
Am J Clin Pathol
, vol.82
, Issue.1
, pp. 24-28
-
-
Chatterjee, S.1
Gupta, P.2
Pyeritz, R.E.3
Kwiterovich, Jr.P.O.4
-
43
-
-
52649120451
-
The renal lesion in angiokeratoma corporis diffusum (Fabry's disease
-
Henry EW, Rally CR (1963) The renal lesion in angiokeratoma corporis diffusum (Fabry's disease). Can Med Assoc J 3(89):206-213
-
(1963)
Can Med Assoc J
, vol.3
, Issue.89
, pp. 206-213
-
-
Henry, E.W.1
Rally, C.R.2
-
44
-
-
0015867775
-
Renal pathologic lesions and functional alterations in a man with Fabry's disease
-
Pabico RC, Atancio BC, McKenna BA, Pamukcoglu T, Yodaiken R (1973) Renal pathologic lesions and functional alterations in a man with Fabry's disease. Am J Med 55(3): 415-425
-
(1973)
Am J Med
, vol.55
, Issue.3
, pp. 415-425
-
-
Pabico, R.C.1
Atancio, B.C.2
McKenna, B.A.3
Pamukcoglu, T.4
Yodaiken, R.5
-
45
-
-
33746139661
-
Fabry disease and nephrogenic diabetes insipidus
-
Wornell P, Dyack S, Crocker J, Yu W, Accott P (2006) Fabry disease and nephrogenic diabetes insipidus. Pediatr Nephrol 21:1185-1188
-
(2006)
Pediatr Nephrol
, vol.21
, pp. 1185-1188
-
-
Wornell, P.1
Dyack, S.2
Crocker, J.3
Yu, W.4
Accott, P.5
-
46
-
-
0041519228
-
Renal involvement in Anderson-Fabry disease
-
Sessa A, Meroni M, Battini G, Righetti M, Maglio A, Tosoni A et al (2003) Renal involvement in Anderson-Fabry disease. J Nephrol 16(2):310-313
-
(2003)
J Nephrol
, vol.16
, Issue.2
, pp. 310-313
-
-
Sessa, A.1
Meroni, M.2
Battini, G.3
Righetti, M.4
Maglio, A.5
Tosoni, A.6
-
47
-
-
20344382763
-
Pediatric Fabry disease
-
Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ et al (2005) Pediatric Fabry disease. Pediatrics 115(3):344-355
-
(2005)
Pediatrics
, vol.115
, Issue.3
, pp. 344-355
-
-
Ries, M.1
Gupta, S.2
Moore, D.F.3
Sachdev, V.4
Quirk, J.M.5
Murray, G.J.6
-
48
-
-
29944437554
-
Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey
-
Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder-Plassmann G et al (2006) Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 95(1):86-92
-
(2006)
Acta Paediatr
, vol.95
, Issue.1
, pp. 86-92
-
-
Ramaswami, U.1
Whybra, C.2
Parini, R.3
Pintos-Morell, G.4
Mehta, A.5
Sunder-Plassmann, G.6
-
49
-
-
55849108852
-
Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry
-
Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP et al (2008) Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 64(5):550-555
-
(2008)
Pediatr Res
, vol.64
, Issue.5
, pp. 550-555
-
-
Hopkin, R.J.1
Bissler, J.2
Banikazemi, M.3
Clarke, L.4
Eng, C.M.5
Germain, D.P.6
-
50
-
-
0036266877
-
Natural history and treatment of renal involvement in Fabry disease
-
Branton M, Schiffmann R, Kopp JB (2002) Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol 13(Suppl 2):S139-S143
-
(2002)
J Am Soc Nephrol
, vol.13
, Issue.SUPPL. 2
-
-
Branton, M.1
Schiffmann, R.2
Kopp, J.B.3
-
51
-
-
0242487692
-
The early clinical phenotype of Fabry disease: A study on 35 European children and adolescents
-
Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I et al (2003) The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 162(11):767-772
-
(2003)
Eur J Pediatr
, vol.162
, Issue.11
, pp. 767-772
-
-
Ries, M.1
Ramaswami, U.2
Parini, R.3
Lindblad, B.4
Whybra, C.5
Willers, I.6
-
53
-
-
65649142017
-
A new equation to estimate glomerular filtration rate
-
Levey AS, Stevens LA, Schmid CH, Zhang Y, Castro AF III, Feldman HI et al (2009) A new equation to estimate glomerular filtration rate. Ann Intern Med 150(9):604-612
-
(2009)
Ann Intern Med
, vol.150
, Issue.9
, pp. 604-612
-
-
Levey, A.S.1
Stevens, L.A.2
Schmid, C.H.3
Zhang, Y.4
Castro III, A.F.5
Feldman, H.I.6
-
54
-
-
20244373336
-
Anemia is a new complication in Fabry disease: Data from the Fabry Outcome Survey
-
Kleinert J, Dehout F, Schwarting A, de Lorenzo AG, Ricci R, Kampmann C et al (2005) Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey. Kidney Int 67(5):1955-1960
-
(2005)
Kidney Int
, vol.67
, Issue.5
, pp. 1955-1960
-
-
Kleinert, J.1
Dehout, F.2
Schwarting, A.3
De Lorenzo, A.G.4
Ricci, R.5
Kampmann, C.6
-
55
-
-
51749086113
-
Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease
-
Oliveira JP, Valbuena C, Baldaia Moreira A, Fonseca E, Soares C, Leao Teles E et al (2008) Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease. Virchows Arch 453(3):291-300
-
(2008)
Virchows Arch
, vol.453
, Issue.3
, pp. 291-300
-
-
Oliveira, J.P.1
Valbuena, C.2
Baldaia Moreira, A.3
Fonseca, E.4
Soares, C.5
Leao Teles, E.6
-
56
-
-
0021882052
-
Response to acute protein load in kidney donors and in apparently normal postacute glomerulonephritis patients: Evidence for glomerular hyperfiltration
-
Rodriguez-Iturbe B, Herrera J, Garcia R (1985) Response to acute protein load in kidney donors and in apparently normal postacute glomerulonephritis patients: evidence for glomerular hyperfiltration. Lancet 2(8453):461-464
-
(1985)
Lancet
, vol.2
, Issue.8453
, pp. 461-464
-
-
Rodriguez-Iturbe, B.1
Herrera, J.2
Garcia, R.3
-
57
-
-
65649096032
-
Agalsidase alfa and kidney dysfunction in Fabry disease
-
West M, Nicholls K, Mehta A, Clarke JT, Steiner R, Beck M et al (2009) Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 20(5):1132-1139
-
(2009)
J Am Soc Nephrol
, vol.20
, Issue.5
, pp. 1132-1139
-
-
West, M.1
Nicholls, K.2
Mehta, A.3
Clarke, J.T.4
Steiner, R.5
Beck, M.6
-
58
-
-
0017195506
-
A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine
-
Schwartz GJ, Haycock GB, Edelmann CM Jr., Spitzer A (1976) A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. Pediatrics 58(2):259-263
-
(1976)
Pediatrics
, vol.58
, Issue.2
, pp. 259-263
-
-
Schwartz, G.J.1
Haycock, G.B.2
Edelmann Jr., C.M.3
Spitzer, A.4
-
59
-
-
43049092306
-
Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria
-
Tondel C, Bostad L, Hirth A, Svarstad E (2008) Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis 51(5): 767-776
-
(2008)
Am J Kidney Dis
, vol.51
, Issue.5
, pp. 767-776
-
-
Tondel, C.1
Bostad, L.2
Hirth, A.3
Svarstad, E.4
-
60
-
-
33744958852
-
Assessing kidney function-measured and estimated glomerular filtration rate
-
Stevens LA, Coresh J, Greene T, Levey AS (2006) Assessing kidney function-measured and estimated glomerular filtration rate. N Engl J Med 354(23):2473-2483
-
(2006)
N Engl J Med
, vol.354
, Issue.23
, pp. 2473-2483
-
-
Stevens, L.A.1
Coresh, J.2
Greene, T.3
Levey, A.S.4
-
61
-
-
84908219488
-
Statistical methods for assessing agreement between two methods of clinical measurement
-
Bland JM, Altman DG (1986) Statistical methods for assessing agreement between two methods of clinical measurement. Lancet 1(8476):307-310
-
(1986)
Lancet
, vol.1
, Issue.8476
, pp. 307-310
-
-
Bland, J.M.1
Altman, D.G.2
-
62
-
-
62149125881
-
New equations to estimate GFR in children with CKD
-
Schwartz GJ, Munoz A, Schneider MF, Mak RH, Kaskel F, Warady BA et al (2009) New equations to estimate GFR in children with CKD. J Am Soc Nephrol 20(3):629-637
-
(2009)
J Am Soc Nephrol
, vol.20
, Issue.3
, pp. 629-637
-
-
Schwartz, G.J.1
Munoz, A.2
Schneider, M.F.3
Mak, R.H.4
Kaskel, F.5
Warady, B.A.6
-
63
-
-
0017120159
-
Estimation of glomerular filtration rate from plasma creatinine concentration in children
-
Counahan R, Chantler C, Ghazali S, Kirkwood B, Rose F, Barratt TM (1976) Estimation of glomerular filtration rate from plasma creatinine concentration in children. Arch Dis Child 51(11):875-878
-
(1976)
Arch Dis Child
, vol.51
, Issue.11
, pp. 875-878
-
-
Counahan, R.1
Chantler, C.2
Ghazali, S.3
Kirkwood, B.4
Rose, F.5
Barratt, T.M.6
-
64
-
-
33749067655
-
Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease
-
Ries M, Clarke JT, Whybra C, Timmons M, Robinson C, Schlaggar BL et al (2006) Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 118(3):924-932
-
(2006)
Pediatrics
, vol.118
, Issue.3
, pp. 924-932
-
-
Ries, M.1
Clarke, J.T.2
Whybra, C.3
Timmons, M.4
Robinson, C.5
Schlaggar, B.L.6
-
65
-
-
33746318436
-
Prevalence of uncontrolled hypertension in patients with Fabry disease
-
Kleinert J, Dehout F, Schwarting A, de Lorenzo AG, Ricci R, Kampmann C et al (2006) Prevalence of uncontrolled hypertension in patients with Fabry disease. Am J Hypertens 19(8):782-787
-
(2006)
Am J Hypertens
, vol.19
, Issue.8
, pp. 782-787
-
-
Kleinert, J.1
Dehout, F.2
Schwarting, A.3
De Lorenzo, A.G.4
Ricci, R.5
Kampmann, C.6
-
66
-
-
1642418412
-
Fabry disease: Renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes
-
Glass RB, Astrin KH, Norton KI, Parsons R, Eng CM, Banikazemi M et al (2004) Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes. J Comput Assist Tomogr 28(2):158-168
-
(2004)
J Comput Assist Tomogr
, vol.28
, Issue.2
, pp. 158-168
-
-
Glass, R.B.1
Astrin, K.H.2
Norton, K.I.3
Parsons, R.4
Eng, C.M.5
Banikazemi, M.6
-
67
-
-
0023216284
-
Natural history and treatment of uremia secondary to Fabry's disease: An European experience
-
Donati D, Novario R, Gastaldi L (1987) Natural history and treatment of uremia secondary to Fabry's disease: an European experience. Nephron 46(4):353-359
-
(1987)
Nephron
, vol.46
, Issue.4
, pp. 353-359
-
-
Donati, D.1
Novario, R.2
Gastaldi, L.3
-
68
-
-
0014171084
-
Angiokeratoma corporis diffusum-Fabry's disease
-
Colombi A, Kostyal A, Bracher R, Gloor F, Mazzi R, Tholen H (1967) Angiokeratoma corporis diffusum-Fabry's disease. Helv Med Acta 34(1):67-83
-
(1967)
Helv Med Acta
, vol.34
, Issue.1
, pp. 67-83
-
-
Colombi, A.1
Kostyal, A.2
Bracher, R.3
Gloor, F.4
Mazzi, R.5
Tholen, H.6
-
69
-
-
0034766525
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
-
MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38(11):750-760
-
(2001)
J Med Genet
, vol.38
, Issue.11
, pp. 750-760
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
70
-
-
59649100878
-
Kidney transplant outcomes in patients with Fabry disease
-
Shah T, Gill J, Malhotra N, Takemoto SK, Bunnapradist S (2009) Kidney transplant outcomes in patients with Fabry disease. Transplantation 87(2):280-285
-
(2009)
Transplantation
, vol.87
, Issue.2
, pp. 280-285
-
-
Shah, T.1
Gill, J.2
Malhotra, N.3
Takemoto, S.K.4
Bunnapradist, S.5
-
71
-
-
12644253826
-
Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry
-
Tsakiris D, Simpson HK, Jones EH, Briggs JD, Elinder CG, Mendel S et al (1996) Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrol Dial Transplant 11(Suppl 7):4-20
-
(1996)
Nephrol Dial Transplant
, vol.11
, Issue.SUPPL. 7
, pp. 4-20
-
-
Tsakiris, D.1
Simpson, H.K.2
Jones, E.H.3
Briggs, J.D.4
Elinder, C.G.5
Mendel, S.6
-
72
-
-
0036145366
-
Patients with Fabry disease on dialysis in the United States
-
Thadhani R, Wolf M, West ML, Tonelli M, Ruthazer R, Pastores GM et al (2002) Patients with Fabry disease on dialysis in the United States. Kidney Int 61(1):249-255
-
(2002)
Kidney Int
, vol.61
, Issue.1
, pp. 249-255
-
-
Thadhani, R.1
Wolf, M.2
West, M.L.3
Tonelli, M.4
Ruthazer, R.5
Pastores, G.M.6
-
73
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281(3):249-254
-
(1999)
JAMA
, vol.281
, Issue.3
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.3
Carey, W.F.4
-
74
-
-
0032780351
-
The frequency of lysosomal storage diseases in the Netherlands
-
Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S et al (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105(1-2):151-156
-
(1999)
Hum Genet
, vol.105
, Issue.1-2
, pp. 151-156
-
-
Poorthuis, B.J.1
Wevers, R.A.2
Kleijer, W.J.3
Groener, J.E.4
De Jong, J.G.5
Van Weely, S.6
-
75
-
-
0034660663
-
Excellent outcome of renal transplantation in patients with Fabry's disease
-
Ojo A, Meier-Kriesche HU, Friedman G, Hanson J, Cibrik D, Leichtman A et al (2000) Excellent outcome of renal transplantation in patients with Fabry's disease. Transplantation 69(11):2337-2339
-
(2000)
Transplantation
, vol.69
, Issue.11
, pp. 2337-2339
-
-
Ojo, A.1
Meier-Kriesche, H.U.2
Friedman, G.3
Hanson, J.4
Cibrik, D.5
Leichtman, A.6
-
76
-
-
5444240959
-
Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease
-
Sessa A, Meroni M, Battini G, Righetti M, Mignani R (2004) Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease. Semin Nephrol 24(5):532-536
-
(2004)
Semin Nephrol
, vol.24
, Issue.5
, pp. 532-536
-
-
Sessa, A.1
Meroni, M.2
Battini, G.3
Righetti, M.4
Mignani, R.5
-
77
-
-
1442299241
-
The molecular defect leading to Fabry disease: Structure of human alpha-galactosidase
-
Garman SC, Garboczi DN (2004) The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol 337(2):319-335
-
(2004)
J Mol Biol
, vol.337
, Issue.2
, pp. 319-335
-
-
Garman, S.C.1
Garboczi, D.N.2
-
78
-
-
23944489917
-
Fabry disease: Correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes
-
Matsuzawa F, Aikawa SI, Doi H, Okumiya T, Sakuraba H (2005) Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes. Hum Genet 117(4):317-328
-
(2005)
Hum Genet
, vol.117
, Issue.4
, pp. 317-328
-
-
Matsuzawa, F.1
Aikawa, S.I.2
Doi, H.3
Okumiya, T.4
Sakuraba, H.5
-
79
-
-
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 (1973) Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 81(2):157-171
-
(1973)
J Lab Clin Med
, vol.81
, Issue.2
, 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
-
80
-
-
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 et al (2003) Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a 'renal variant' phenotype. Kidney Int 64(3):801-807
-
(2003)
Kidney Int
, vol.64
, Issue.3
, pp. 801-807
-
-
Nakao, S.1
Kodama, C.2
Takenaka, T.3
Tanaka, A.4
Yasumoto, Y.5
Yoshida, A.6
-
81
-
-
11144355110
-
Results of a nationwide screening for Anderson-Fabry disease among dialysis patients
-
Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtlander T, Auinger M et al (2004) Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 15(5):1323-1329
-
(2004)
J Am Soc Nephrol
, vol.15
, Issue.5
, pp. 1323-1329
-
-
Kotanko, P.1
Kramar, R.2
Devrnja, D.3
Paschke, E.4
Voigtlander, T.5
Auinger, M.6
-
82
-
-
59249084843
-
Anderson-Fabry disease: A case-finding study among male kidney transplant recipients in Austria
-
Kleinert J, Kotanko P, Spada M, Pagliardini S, Paschke E, Paul K et al (2009) Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria. Transpl Int 22(3):287-292
-
(2009)
Transpl Int
, vol.22
, Issue.3
, pp. 287-292
-
-
Kleinert, J.1
Kotanko, P.2
Spada, M.3
Pagliardini, S.4
Paschke, E.5
Paul, K.6
-
83
-
-
33845986344
-
A nationwide blood spot screening study for Fabry disease in the Czech Republic haemo-dialysis patient population
-
Merta M, Reiterova J, Ledvinova J, Poupetova H, Dobrovolny R, Rysava R et al (2007) A nationwide blood spot screening study for Fabry disease in the Czech Republic haemo-dialysis patient population. Nephrol Dial Transplant 22(1):179-186
-
(2007)
Nephrol Dial Transplant
, vol.22
, Issue.1
, pp. 179-186
-
-
Merta, M.1
Reiterova, J.2
Ledvinova, J.3
Poupetova, H.4
Dobrovolny, R.5
Rysava, R.6
-
84
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H et al (2006) High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 79(1):31-40
-
(2006)
Am J Hum Genet
, vol.79
, Issue.1
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
Tukel, T.4
Thiagarajan, G.5
Sakuraba, H.6
-
85
-
-
0034010398
-
Fabry disease in patients receiving maintenance dialysis
-
Utsumi K, Kase R, Takata T, Sakuraba H, Matsui N, Saito H et al (2000) Fabry disease in patients receiving maintenance dialysis. Clin Exp Nephrol 4(1):46-51
-
(2000)
Clin Exp Nephrol
, vol.4
, Issue.1
, pp. 46-51
-
-
Utsumi, K.1
Kase, R.2
Takata, T.3
Sakuraba, H.4
Matsui, N.5
Saito, H.6
-
86
-
-
26244468125
-
Significance of screening for Fabry disease among male dialysis patients
-
Ichinose M, Nakayama M, Ohashi T, Utsunomiya Y, Kobayashi M, Eto Y (2005) Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol 9(3):228-232
-
(2005)
Clin Exp Nephrol
, vol.9
, Issue.3
, pp. 228-232
-
-
Ichinose, M.1
Nakayama, M.2
Ohashi, T.3
Utsunomiya, Y.4
Kobayashi, M.5
Eto, Y.6
-
87
-
-
26844467378
-
Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients
-
Tanaka M, Ohashi T, Kobayashi M, Eto Y, Miyamura N, Nishida K et al (2005) Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. Clin Nephrol 64(4):281-287
-
(2005)
Clin Nephrol
, vol.64
, Issue.4
, pp. 281-287
-
-
Tanaka, M.1
Ohashi, T.2
Kobayashi, M.3
Eto, Y.4
Miyamura, N.5
Nishida, K.6
-
88
-
-
38749085341
-
Screening for Fabry disease in patients with chronic kidney disease: Limitations of plasma alpha-galactosidase assay as a screening test
-
Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD et al (2008) Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. Clin J Am Soc Nephrol 3(1):139-145
-
(2008)
Clin J Am Soc Nephrol
, vol.3
, Issue.1
, 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
-
89
-
-
0029023150
-
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
-
Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M et al (1995) An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333(5):288-293
-
(1995)
N Engl J Med
, vol.333
, Issue.5
, pp. 288-293
-
-
Nakao, S.1
Takenaka, T.2
Maeda, M.3
Kodama, C.4
Tanaka, A.5
Tahara, M.6
-
90
-
-
0037177166
-
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
-
Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ et al (2002) Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105(12):1407-1411
-
(2002)
Circulation
, vol.105
, Issue.12
, pp. 1407-1411
-
-
Sachdev, B.1
Takenaka, T.2
Teraguchi, H.3
Tei, C.4
Lee, P.5
McKenna, W.J.6
-
91
-
-
0035178136
-
Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease
-
Yoshitama T, Nakao S, Takenaka T, Teraguchi H, Sasaki T, Kodama C et al (2001) Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease. Am J Cardiol 87(1):71-75
-
(2001)
Am J Cardiol
, vol.87
, Issue.1
, pp. 71-75
-
-
Yoshitama, T.1
Nakao, S.2
Takenaka, T.3
Teraguchi, H.4
Sasaki, T.5
Kodama, C.6
-
92
-
-
15244338811
-
Cardiac abnormalities in Fabry disease: Natural history in hemizygote males suggests that cardiac pathology is universally present
-
Altarescu G, Elstein D (2005) Cardiac abnormalities in Fabry disease: natural history in hemizygote males suggests that cardiac pathology is universally present. Haema 8(1): 103-108
-
(2005)
Haema
, vol.8
, Issue.1
, pp. 103-108
-
-
Altarescu, G.1
Elstein, D.2
-
93
-
-
43949098964
-
Terminal stage cardiac findings in patients with cardiac Fabry disease: An electrocardio-graphic, echocardiographic, and autopsy study
-
Takenaka T, Teraguchi H, Yoshida A, Taguchi S, Ninomiya K, Umekita Y et al (2008) Terminal stage cardiac findings in patients with cardiac Fabry disease: An electrocardio-graphic, echocardiographic, and autopsy study. J Cardiol 51(1):50-59
-
(2008)
J Cardiol
, vol.51
, Issue.1
, pp. 50-59
-
-
Takenaka, T.1
Teraguchi, H.2
Yoshida, A.3
Taguchi, S.4
Ninomiya, K.5
Umekita, Y.6
-
94
-
-
0001089467
-
Fabry's disease: Classification as a sphingolipidosis and partial characterization of a novel glycolipid
-
Sweeley CC, Klionsky B (1963) Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem 238:3148-3150
-
(1963)
J Biol Chem
, vol.238
, pp. 3148-3150
-
-
Sweeley, C.C.1
Klionsky, B.2
-
95
-
-
0014578585
-
Tissue distribution of glycosphingolipids in a case of Fabry's disease
-
Schibanoff JM, Kamoshita S, O'Brien JS (1969) Tissue distribution of glycosphingolipids in a case of Fabry's disease. J Lipid Res 10(5):515-520
-
(1969)
J Lipid Res
, vol.10
, Issue.5
, pp. 515-520
-
-
Schibanoff, J.M.1
Kamoshita, S.2
O'Brien, J.S.3
-
96
-
-
0017872842
-
Early renal changes in hemizygous and heterozygous patients with Fabry's disease
-
Gubler MC, Lenoir G, Grunfeld JP, Ulmann A, Droz D, Habib R (1978) Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int 13(3):223-235
-
(1978)
Kidney Int
, vol.13
, Issue.3
, pp. 223-235
-
-
Gubler, M.C.1
Lenoir, G.2
Grunfeld, J.P.3
Ulmann, A.4
Droz, D.5
Habib, R.6
-
97
-
-
0035988269
-
Renal ultrastructural findings in Anderson-Fabry disease
-
Sessa A, Toson A, Nebuloni M, Pallotti F, Giordano F, Battini G et al (2002) Renal ultrastructural findings in Anderson-Fabry disease. J Nephrol 15(2):109-112
-
(2002)
J Nephrol
, vol.15
, Issue.2
, pp. 109-112
-
-
Sessa, A.1
Toson, A.2
Nebuloni, M.3
Pallotti, F.4
Giordano, F.5
Battini, G.6
-
98
-
-
0031626770
-
Fetal pathology in Fabry's disease and mucopolysaccharidosis type i [in Czech]
-
Elleder M, Poupetova H, Kozich V (1998) Fetal pathology in Fabry's disease and mucopolysaccharidosis type I [in Czech]. Cesk Patol 34(1):7-12
-
(1998)
Cesk Patol
, vol.34
, Issue.1
, pp. 7-12
-
-
Elleder, M.1
Poupetova, H.2
Kozich, V.3
-
99
-
-
0014005674
-
Neutral glycolipids of human kidney isolation, identification, and fatty acid composition
-
Mårtensson E (1966) Neutral glycolipids of human kidney isolation, identification, and fatty acid composition. Biochim Biophys Acta 116(2):296-308
-
(1966)
Biochim Biophys Acta
, vol.116
, Issue.2
, pp. 296-308
-
-
Mårtensson, E.1
-
100
-
-
77957247287
-
The chemical structure of human kidney globoside
-
Makita A, Iwanaga M, Yamakawa T (1964) The chemical structure of human kidney globoside. J Biochem 55:202-204
-
(1964)
J Biochem
, vol.55
, pp. 202-204
-
-
Makita, A.1
Iwanaga, M.2
Yamakawa, T.3
-
101
-
-
0034685913
-
Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids
-
Kojima Y, Fukumoto S, Furukawa K, Okajima T, Wiels J, Yokoyama K et al (2000) Molecular cloning of globotriaosylceramide/CD77 synthase, a glycosyltransferase that initiates the synthesis of globo series glycosphingolipids. J Biol Chem 275(20):15152-15156
-
(2000)
J Biol Chem
, vol.275
, Issue.20
, pp. 15152-15156
-
-
Kojima, Y.1
Fukumoto, S.2
Furukawa, K.3
Okajima, T.4
Wiels, J.5
Yokoyama, K.6
-
102
-
-
0034091578
-
Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation
-
Abe A, Gregory S, Lee L, Killen PD, Brady RO, Kulkarni A et al (2000) Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. J Clin Invest 105(11):1563-1571
-
(2000)
J Clin Invest
, vol.105
, Issue.11
, pp. 1563-1571
-
-
Abe, A.1
Gregory, S.2
Lee, L.3
Killen, P.D.4
Brady, R.O.5
Kulkarni, A.6
-
103
-
-
0034728914
-
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox T, Lachmann R, Hollak C, Aerts J, van Weely S, Hrebicek M et al (2000) Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355(9214):1481-1485
-
(2000)
Lancet
, vol.355
, Issue.9214
, pp. 1481-1485
-
-
Cox, T.1
Lachmann, R.2
Hollak, C.3
Aerts, J.4
Van Weely, S.5
Hrebicek, M.6
-
104
-
-
0023657116
-
Roles of globotriosyl-and galabiosylceramide in verotoxin binding and high affinity interferon receptor
-
Cohen A, Hannigan GE, Williams BR, Lingwood CA (1987) Roles of globotriosyl-and galabiosylceramide in verotoxin binding and high affinity interferon receptor. J Biol Chem 262(35):17088-17091
-
(1987)
J Biol Chem
, vol.262
, Issue.35
, pp. 17088-17091
-
-
Cohen, A.1
Hannigan, G.E.2
Williams, B.R.3
Lingwood, C.A.4
-
105
-
-
0037484358
-
Shigatoxin-1 binding and receptor expression in human kidneys do not change with age
-
Ergonul Z, Clayton F, Fogo AB, Kohan DE (2003) Shigatoxin-1 binding and receptor expression in human kidneys do not change with age. Pediatr Nephrol 18(3):246-253
-
(2003)
Pediatr Nephrol
, vol.18
, Issue.3
, pp. 246-253
-
-
Ergonul, Z.1
Clayton, F.2
Fogo, A.B.3
De, K.4
-
106
-
-
0034129328
-
Many cell types are Shiga toxin targets
-
Meyers KE, Kaplan BS (2000) Many cell types are Shiga toxin targets. Kidney Int 57(6):2650-2651
-
(2000)
Kidney Int
, vol.57
, Issue.6
, pp. 2650-2651
-
-
Meyers, K.E.1
Kaplan, B.S.2
-
107
-
-
59149106521
-
Downregulation of alpha-galactosidase A upregulates CD77: Functional impact for Fabry nephropathy
-
Thomaidis T, Relle M, Golbas M, Brochhausen C, Galle PR, Beck M et al (2009) Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy. Kidney Int 75(4):399-407
-
(2009)
Kidney Int
, vol.75
, Issue.4
, pp. 399-407
-
-
Thomaidis, T.1
Relle, M.2
Golbas, M.3
Brochhausen, C.4
Galle, P.R.5
Beck, M.6
-
108
-
-
0037181493
-
Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry
-
Mills K, Johnson A, Winchester B (2002) Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry. FEBS Lett 515(1-3):171-176
-
(2002)
FEBS Lett
, vol.515
, Issue.1-3
, pp. 171-176
-
-
Mills, K.1
Johnson, A.2
Winchester, B.3
-
109
-
-
16244379886
-
Urinary lipid profiling for the identification of Fabry hemizygotes and heterozygotes
-
Fuller M, Sharp PC, Rozaklis T, Whitfield PD, Blacklock D, Hopwood JJ et al (2005) Urinary lipid profiling for the identification of Fabry hemizygotes and heterozygotes. Clin Chem 51(4):688-694
-
(2005)
Clin Chem
, vol.51
, Issue.4
, pp. 688-694
-
-
Fuller, M.1
Sharp, P.C.2
Rozaklis, T.3
Whitfield, P.D.4
Blacklock, D.5
Hopwood, J.J.6
-
110
-
-
0016802543
-
La transplantation rénale chez les sujets atteints de maladie de Fabry. Transplantation du rein d'un sujet hétérozygote à un sujet sain [in French]
-
Grunfeld JP, Le Porrier M, Droz D, Bensaude I, Hinglais N, Crosnier J (1975) La transplantation rénale chez les sujets atteints de maladie de Fabry. Transplantation du rein d'un sujet hétérozygote à un sujet sain [in French]. Nouv Presse Med 4(29):2081-2085
-
(1975)
Nouv Presse Med
, vol.4
, Issue.29
, pp. 2081-2085
-
-
Grunfeld, J.P.1
Le Porrier, M.2
Droz, D.3
Bensaude, I.4
Hinglais, N.5
Crosnier, J.6
-
111
-
-
0035157578
-
Renal pathological changes in Fabry disease
-
discussion 65
-
Sessa A, Meroni M, Battini G, Maglio A, Brambilla PL, Bertella M et al (2001) Renal pathological changes in Fabry disease. J Inherit Metab Dis 24(Suppl 2):66-70, discussion 65
-
(2001)
J Inherit Metab Dis
, vol.24
, Issue.SUPPL. 2
, pp. 66-70
-
-
Sessa, A.1
Meroni, M.2
Battini, G.3
Maglio, A.4
Brambilla, P.L.5
Bertella, M.6
-
113
-
-
33748881819
-
Fabry disease: A morphologic study of 11 cases
-
Fischer EG, Moore MJ, Lager DJ (2006) Fabry disease: a morphologic study of 11 cases. Mod Pathol 19(10):1295-1301
-
(2006)
Mod Pathol
, vol.19
, Issue.10
, pp. 1295-1301
-
-
Fischer, E.G.1
Moore, M.J.2
Lager, D.J.3
-
114
-
-
0018905057
-
Clinicopathologic, enzymatic, and genetic features in a case of Fabry's disease
-
Burkholder PM, Updike SJ, Ware RA, Reese OG (1980) Clinicopathologic, enzymatic, and genetic features in a case of Fabry's disease. Arch Pathol Lab Med 104(1):17-25
-
(1980)
Arch Pathol Lab Med
, vol.104
, Issue.1
, pp. 17-25
-
-
Burkholder, P.M.1
Updike, S.J.2
Ware, R.A.3
Reese, O.G.4
-
115
-
-
0019427530
-
Light-and electron-microscopic histochemistry of Fabry's disease
-
Faraggiana T, Churg J, Grishman E, Strauss L, Prado A, Bishop DF et al (1981) Light-and electron-microscopic histochemistry of Fabry's disease. Am J Pathol 103(2):247-262
-
(1981)
Am J Pathol
, vol.103
, Issue.2
, pp. 247-262
-
-
Faraggiana, T.1
Churg, J.2
Grishman, E.3
Strauss, L.4
Prado, A.5
Bishop, D.F.6
-
116
-
-
0028866658
-
A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody
-
Fukushima M, Tsuchiyama Y, Nakato T, Yokoi T, Ikeda H, Yoshida S et al (1995) A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody. Am J Kidney Dis 26(6):952-955
-
(1995)
Am J Kidney Dis
, vol.26
, Issue.6
, pp. 952-955
-
-
Fukushima, M.1
Tsuchiyama, Y.2
Nakato, T.3
Yokoi, T.4
Ikeda, H.5
Yoshida, S.6
-
117
-
-
34848836985
-
Cellular and tissue localization of globotriaosylceramide in Fabry disease
-
Askari H, Kaneski CR, Semino-Mora C, Desai P, Ang A, Kleiner DE et al (2007) Cellular and tissue localization of globotriaosylceramide in Fabry disease. Virchows Arch 451(4):823-834
-
(2007)
Virchows Arch
, vol.451
, Issue.4
, pp. 823-834
-
-
Askari, H.1
Kaneski, C.R.2
Semino-Mora, C.3
Desai, P.4
Ang, A.5
Kleiner, D.E.6
-
118
-
-
0028216629
-
Generation of one set of murine monoclonal antibodies specific for globo-series glycolipids: Evidence for differential distribution of the glycolipids in rat small intestine
-
Kotani M, Kawashima I, Ozawa H, Ogura K, Ariga T, Tai T (1994) Generation of one set of murine monoclonal antibodies specific for globo-series glycolipids: evidence for differential distribution of the glycolipids in rat small intestine. Arch Biochem Biophys 310(1):89-96
-
(1994)
Arch Biochem Biophys
, vol.310
, Issue.1
, pp. 89-96
-
-
Kotani, M.1
Kawashima, I.2
Ozawa, H.3
Ogura, K.4
Ariga, T.5
Tai, T.6
-
119
-
-
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, Collins AB et al (2002) Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62(6):1933-1946
-
(2002)
Kidney Int
, vol.62
, Issue.6
, pp. 1933-1946
-
-
Thurberg, B.L.1
Rennke, H.2
Colvin, R.B.3
Dikman, S.4
Gordon, R.E.5
Collins, A.B.6
-
120
-
-
77954321307
-
Scoring system for renal pathology in Fabry disease: Report of the International Study Group of Fabry Nephropathy (ISGFN)
-
(in press)
-
Fogo AB, Bostad L, Svarstad E, Cook WJ, Moll S, Barbey F et al (2010) Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN). Nephrol Dial Transplant 25 (in press)
-
(2010)
Nephrol Dial Transplant
, vol.25
-
-
Fogo, A.B.1
Bostad, L.2
Svarstad, E.3
Cook, W.J.4
Moll, S.5
Barbey, F.6
-
121
-
-
22244463241
-
Ultrastructural study of renal involvement in two females with Anderson-Fabry disease
-
Tosoni A, Nebuloni M, Zerbi P, Vago L, Comotti C, Sessa A (2005) Ultrastructural study of renal involvement in two females with Anderson-Fabry disease. Ultrastruct Pathol 29(3-4):203-207
-
(2005)
Ultrastruct Pathol
, vol.29
, Issue.3-4
, pp. 203-207
-
-
Tosoni, A.1
Nebuloni, M.2
Zerbi, P.3
Vago, L.4
Comotti, C.5
Sessa, A.6
-
122
-
-
84891388754
-
Fabry disease, a rare thesausrismosis [in Portugese]
-
Faria V (1970) Fabry disease, a rare thesausrismosis [in Portugese]. Jornal do Médico. [Case report] 72(1423):5-11
-
(1970)
Jornal Do Médico. [Case Report]
, vol.72
, Issue.1423
, pp. 5-11
-
-
Faria, V.1
-
123
-
-
34250353162
-
Staging of Fabry disease using renal biopsies
-
S
-
Oliveira JP (2007) Staging of Fabry disease using renal biopsies. Clin Therap 29(Suppl A):S
-
(2007)
Clin Therap
, vol.29
, Issue.SUPPL. A
-
-
Oliveira, J.P.1
-
124
-
-
0347989591
-
Fabry disease: Renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications
-
Meehan SM, Junsanto T, Rydel JJ, Desnick RJ (2004) Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. Am J Kidney Dis 43(1):164-171
-
(2004)
Am J Kidney Dis
, vol.43
, Issue.1
, pp. 164-171
-
-
Meehan, S.M.1
Junsanto, T.2
Rydel, J.J.3
Desnick, R.J.4
-
125
-
-
15444367892
-
Fabry disease: Diagnosis and management, with emphasis on the renal manifestations
-
Warnock DG (2005) Fabry disease: diagnosis and management, with emphasis on the renal manifestations. Curr Opin Nephrol Hypertens 14(2):87-95
-
(2005)
Curr Opin Nephrol Hypertens
, vol.14
, Issue.2
, pp. 87-95
-
-
Warnock, D.G.1
-
126
-
-
32444451549
-
Mechanisms of progression and regression of renal lesions of chronic nephropathies and diabetes
-
Remuzzi G, Benigni A, Remuzzi A (2006) Mechanisms of progression and regression of renal lesions of chronic nephropathies and diabetes. J Clin Invest 116(2):288-296
-
(2006)
J Clin Invest
, vol.116
, Issue.2
, pp. 288-296
-
-
Remuzzi, G.1
Benigni, A.2
Remuzzi, A.3
-
127
-
-
0038188560
-
Retarding progression of chronic renal disease: The neglected issue of residual proteinuria
-
Ruggenenti P, Perna A, Remuzzi G (2003) Retarding progression of chronic renal disease: the neglected issue of residual proteinuria. Kidney Int 63(6):2254-2261
-
(2003)
Kidney Int
, vol.63
, Issue.6
, pp. 2254-2261
-
-
Ruggenenti, P.1
Perna, A.2
Remuzzi, G.3
-
128
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S et al (2001) Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 345(1):9-16
-
(2001)
N Engl J Med
, vol.345
, Issue.1
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
Waldek, S.6
-
129
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA III, Sabnis S, Moore DF, Weibel T et al (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285(21): 2743-2749
-
(2001)
JAMA
, vol.285
, Issue.21
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin III, H.A.3
Sabnis, S.4
Moore, D.F.5
Weibel, T.6
-
130
-
-
34248190164
-
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
-
Germain D, Waldek S, Banikazemi M, Bushinsky D, Charrow J, Lee P 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(5):1547-1557
-
(2007)
J Am Soc Nephrol
, vol.18
, Issue.5
, pp. 1547-1557
-
-
Germain, D.1
Waldek, S.2
Banikazemi, M.3
Bushinsky, D.4
Charrow, J.5
Lee, P.6
-
131
-
-
3142554529
-
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
-
Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE et al (2004) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75(1):65-74
-
(2004)
Am J Hum Genet
, vol.75
, Issue.1
, pp. 65-74
-
-
Wilcox, W.R.1
Banikazemi, M.2
Guffon, N.3
Waldek, S.4
Lee, P.5
Linthorst, G.E.6
-
132
-
-
18244397953
-
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement
-
Moore DF, Altarescu G, Ling GS, Jeffries N, Frei KP, Weibel T et al (2002) Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 33(2):525-531
-
(2002)
Stroke
, vol.33
, Issue.2
, pp. 525-531
-
-
Moore, D.F.1
Altarescu, G.2
Ling, G.S.3
Jeffries, N.4
Frei, K.P.5
Weibel, T.6
-
133
-
-
2542436148
-
Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease
-
Hilz MJ, Kolodny EH, Brys M, Stemper B, Haendl T, Marthol H (2004) Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease. J Neurol 251(5):564-570
-
(2004)
J Neurol
, vol.251
, Issue.5
, pp. 564-570
-
-
Hilz, M.J.1
Kolodny, E.H.2
Brys, M.3
Stemper, B.4
Haendl, T.5
Marthol, H.6
-
134
-
-
16844371912
-
Vascular complications of Fabry disease: Enzyme replacement and other therapies
-
discussion 9-10
-
Hughes DA, Mehta AB (2005) Vascular complications of Fabry disease: enzyme replacement and other therapies. Acta Paediatr Suppl 94(447):28-33, discussion 9-10
-
(2005)
Acta Paediatr Suppl
, vol.94
, Issue.447
, pp. 28-33
-
-
Hughes, D.A.1
Mehta, A.B.2
-
135
-
-
33644524081
-
Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A
-
Elliott PM, Kindler H, Shah JS, Sachdev B, Rimoldi OE, Thaman R et al (2006) Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A. Heart 92(3):357-360
-
(2006)
Heart
, vol.92
, Issue.3
, pp. 357-360
-
-
Elliott, P.M.1
Kindler, H.2
Shah, J.S.3
Sachdev, B.4
Rimoldi, O.E.5
Thaman, R.6
-
136
-
-
0037452544
-
Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
-
Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M et al (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138(4):338-346
-
(2003)
Ann Intern Med
, vol.138
, Issue.4
, pp. 338-346
-
-
Desnick, R.J.1
Brady, R.2
Barranger, J.3
Collins, A.J.4
Germain, D.P.5
Goldman, M.6
-
137
-
-
53749095321
-
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
-
Shen JS, Meng XL, Moore DF, Quirk JM, Shayman JA, Schiffmann R et al (2008) Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 95(3):163-168
-
(2008)
Mol Genet Metab
, vol.95
, Issue.3
, pp. 163-168
-
-
Shen, J.S.1
Meng, X.L.2
Moore, D.F.3
Quirk, J.M.4
Shayman, J.A.5
Schiffmann, R.6
-
138
-
-
33845698287
-
Myeloperoxidase predicts risk of vasculopathic events in hemizygous males with Fabry disease
-
Kaneski CR, Moore DF, Ries M, Zirzow GC, Schiffmann R (2006) Myeloperoxidase predicts risk of vasculopathic events in hemizygous males with Fabry disease. Neurology 67(11):2045-2047
-
(2006)
Neurology
, vol.67
, Issue.11
, pp. 2045-2047
-
-
Kaneski, C.R.1
Moore, D.F.2
Ries, M.3
Zirzow, G.C.4
Schiffmann, R.5
-
140
-
-
0035912555
-
Progression, remission, regression of chronic renal diseases
-
Ruggenenti P, Schieppati A, Remuzzi G (2001) Progression, remission, regression of chronic renal diseases. Lancet 357(9268):1601-1608
-
(2001)
Lancet
, vol.357
, Issue.9268
, pp. 1601-1608
-
-
Ruggenenti, P.1
Schieppati, A.2
Remuzzi, G.3
-
141
-
-
20244382844
-
The relationship between magnitude of proteinuria reduction and risk of end-stage renal disease: Results of the African American study of kidney disease and hypertension
-
Lea J, Greene T, Hebert L, Lipkowitz M, Massry S, Middleton J et al (2005) The relationship between magnitude of proteinuria reduction and risk of end-stage renal disease: results of the African American study of kidney disease and hypertension. Arch Intern Med 165(8): 947-953
-
(2005)
Arch Intern Med
, vol.165
, Issue.8
, pp. 947-953
-
-
Lea, J.1
Greene, T.2
Hebert, L.3
Lipkowitz, M.4
Massry, S.5
Middleton, J.6
-
142
-
-
48049100806
-
Role of remission clinics in the longitudinal treatment of CKD
-
Ruggenenti P, Perticucci E, Cravedi P, Gambara V, Costantini M, Sharma SK et al (2008) Role of remission clinics in the longitudinal treatment of CKD. J Am Soc Nephrol 19(6):1213-1224
-
(2008)
J Am Soc Nephrol
, vol.19
, Issue.6
, pp. 1213-1224
-
-
Ruggenenti, P.1
Perticucci, E.2
Cravedi, P.3
Gambara, V.4
Costantini, M.5
Sharma, S.K.6
-
143
-
-
34548474768
-
Antiproteinuric therapy and Fabry nephropathy: Sustained reduction in proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta
-
Tahir H, Jackson LL, Warnock DG (2007) Antiproteinuric therapy and Fabry nephropathy: Sustained reduction in proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol 18:2609-2617
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 2609-2617
-
-
Tahir, H.1
Jackson, L.L.2
Warnock, D.G.3
-
144
-
-
33846908304
-
Agalsidase-beta therapy for advanced Fabry disease: A randomized trial
-
Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M et al (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146(2):77-86
-
(2007)
Ann Intern Med
, vol.146
, Issue.2
, pp. 77-86
-
-
Banikazemi, M.1
Bultas, J.2
Waldek, S.3
Wilcox, W.R.4
Whitley, C.B.5
McDonald, M.6
-
145
-
-
33645528253
-
Clinical benefit of enzyme replacement therapy in Fabry disease
-
Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C (2006) Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 69(7):1216-1221
-
(2006)
Kidney Int
, vol.69
, Issue.7
, pp. 1216-1221
-
-
Breunig, F.1
Weidemann, F.2
Strotmann, J.3
Knoll, A.4
Wanner, C.5
-
146
-
-
34248138939
-
Weekly enzyme replacement therapy may slow decline of renal function in Fabry patients who are on long-term biweekly dosing
-
Schiffmann R, Askari H, Timmons M, Robinson C, Benko W, Brady R et al (2007) Weekly enzyme replacement therapy may slow decline of renal function in Fabry patients who are on long-term biweekly dosing. J Am Soc Nephrol 18(5):1576-1583
-
(2007)
J Am Soc Nephrol
, vol.18
, Issue.5
, pp. 1576-1583
-
-
Schiffmann, R.1
Askari, H.2
Timmons, M.3
Robinson, C.4
Benko, W.5
Brady, R.6
-
147
-
-
31544456336
-
Long-term therapy with agalsidase alfa for Fabry disease: Safety and effects on renal function in a home infusion setting
-
Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO (2006) Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21(2):345-354
-
(2006)
Nephrol Dial Transplant
, vol.21
, Issue.2
, pp. 345-354
-
-
Schiffmann, R.1
Ries, M.2
Timmons, M.3
Flaherty, J.T.4
Brady, R.O.5
-
151
-
-
0037038234
-
Clinical practice. Nondiabetic kidney disease
-
Levey AS (2002) Clinical practice. Nondiabetic kidney disease. N Engl J Med 347(19):1505-1511
-
(2002)
N Engl J Med
, vol.347
, Issue.19
, pp. 1505-1511
-
-
Levey, A.S.1
-
152
-
-
0035922441
-
Effects of losartan on renal and cardiovascular outcomes in patients with type 2 diabetes and nephropathy
-
Brenner BM, Cooper ME, de Zeeuw D, Keane WF, Mitch WE, Parving HH et al (2001) Effects of losartan on renal and cardiovascular outcomes in patients with type 2 diabetes and nephropathy. N Engl J Med 345(12):861-869
-
(2001)
N Engl J Med
, vol.345
, Issue.12
, pp. 861-869
-
-
Brenner, B.M.1
Cooper, M.E.2
De Zeeuw, D.3
Keane, W.F.4
Mitch, W.E.5
Parving, H.H.6
-
153
-
-
0035922447
-
Renoprotective effect of the angiotensin-receptor antagonist irbesartan in patients with nephropathy due to type 2 diabetes
-
Lewis EJ, Hunsicker LG, Clarke WR, Berl T, Pohl MA, Lewis JB et al (2001) Renoprotective effect of the angiotensin-receptor antagonist irbesartan in patients with nephropathy due to type 2 diabetes. N Engl J Med 345(12):851-860
-
(2001)
N Engl J Med
, vol.345
, Issue.12
, pp. 851-860
-
-
Lewis, E.J.1
Hunsicker, L.G.2
Clarke, W.R.3
Berl, T.4
Pohl, M.A.5
Lewis, J.B.6
-
154
-
-
0035922435
-
Prevention of end-stage renal disease due to type 2 diabetes
-
Hofstetter TH (2001) Prevention of end-stage renal disease due to type 2 diabetes. N Engl J Med 345(12):910-912
-
(2001)
N Engl J Med
, vol.345
, Issue.12
, pp. 910-912
-
-
Hofstetter, T.H.1
-
155
-
-
70350310100
-
Strict blood-pressure control and progression of renal failure in children
-
The ESCAPE Trial Group
-
The ESCAPE Trial Group (2009) Strict blood-pressure control and progression of renal failure in children. N Engl J Med 361(17):1639-1650
-
(2009)
N Engl J Med
, vol.361
, Issue.17
, pp. 1639-1650
-
-
-
156
-
-
34249882718
-
Progression risk, urinary protein excretion, and treatment effects of Angiotensin-converting enzyme inhibitors in nondiabetic kidney disease
-
Kent DM, Jafar TH, Hayward RA, Tighiouart H, Landa M, de Jong P et al (2007) Progression risk, urinary protein excretion, and treatment effects of Angiotensin-converting enzyme inhibitors in nondiabetic kidney disease. J Am Soc Nephrol 18(6):1959-1965
-
(2007)
J Am Soc Nephrol
, vol.18
, Issue.6
, pp. 1959-1965
-
-
Kent, D.M.1
Jafar, T.H.2
Hayward, R.A.3
Tighiouart, H.4
Landa, M.5
De Jong, P.6
-
157
-
-
34047265646
-
Albuminuria: A target for treatment of type 2 diabetic nephropathy
-
de Zeeuw D (2007) Albuminuria: a target for treatment of type 2 diabetic nephropathy. Semin Nephrol 27(2):172-181
-
(2007)
Semin Nephrol
, vol.27
, Issue.2
, pp. 172-181
-
-
De Zeeuw, D.1
-
158
-
-
33748746594
-
Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement
-
Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ et al (2006) Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 8(9):539-548
-
(2006)
Genet Med
, vol.8
, Issue.9
, pp. 539-548
-
-
Eng, C.M.1
Germain, D.P.2
Banikazemi, M.3
Warnock, D.G.4
Wanner, C.5
Hopkin, R.J.6
-
159
-
-
73349142401
-
Mineralocorticoid receptor blockers and chronic kidney disease
-
Jain G, Campbell RC, Warnock DG (2009) Mineralocorticoid receptor blockers and chronic kidney disease. Clin J Am Soc Nephrol 4:1685-1691
-
(2009)
Clin J Am Soc Nephrol
, vol.4
, pp. 1685-1691
-
-
Jain, G.1
Campbell, R.C.2
Warnock, D.G.3
-
160
-
-
67651096945
-
Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease
-
Fervenza FC, Torra R, Warnock DG (2008) Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease. Biologics 2(4):1-22
-
(2008)
Biologics
, vol.2
, Issue.4
, pp. 1-22
-
-
Fervenza, F.C.1
Torra, R.2
Warnock, D.G.3
|