-
1
-
-
0000130432
-
The renal lesion in angiokeratoma corporis diffusum
-
Colley JR, Miller DL, Hutt MS et al. The renal lesion in angiokeratoma corporis diffusum. Br Med J 1958; 1: 1266-1268.
-
(1958)
Br Med J
, vol.1
, pp. 1266-1268
-
-
Colley, J.R.1
Miller, D.L.2
Hutt, M.S.3
-
3
-
-
0034766525
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
-
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001; 38: 750-760. (Pubitemid 33032930)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.11
, pp. 750-760
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
4
-
-
0034754467
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females [1]
-
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001; 38: 769-775. (Pubitemid 33032933)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.11
, pp. 769-775
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
5
-
-
38049036770
-
Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
-
Wilcox WR, Oliveira JP, Hopkin RJ. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008; 93: 112-128.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 112-128
-
-
Wilcox, W.R.1
Oliveira, J.P.2
Hopkin, R.J.3
-
6
-
-
67651123138
-
Fabry disease: Progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
-
Schiffmann R, Warnock DG, Banikazemi M et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009; 24: 2102-2111.
-
(2009)
Nephrol Dial Transplant
, vol.24
, pp. 2102-2111
-
-
Schiffmann, R.1
Warnock, D.G.2
Banikazemi, M.3
-
8
-
-
43049092306
-
Renal biopsy findings in children and adolescents with fabry disease and minimal albuminuria
-
DOI 10.1053/j.ajkd.2007.12.032, PII S0272638608000668
-
Tøndel C, Bostad L, Hirth A et al. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria [published erratum appears in Am J Kidney Dis 2009; 53: 567] Am J Kidney Dis 2008; 51: 767-776. (Pubitemid 351626251)
-
(2008)
American Journal of Kidney Diseases
, vol.51
, Issue.5
, pp. 767-776
-
-
Tondel, C.1
Bostad, L.2
Hirth, A.3
Svarstad, E.4
-
9
-
-
77954321307
-
Scoring system for renal pathology in Fabry disease: Report of the International Study Group of Fabry Nephropathy (ISGFN)
-
Fogo AB, Bostad L, Svarstad E et al. Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN). Nephrol Dial Transplant 2010; 25: 2168-2177.
-
(2010)
Nephrol Dial Transplant
, vol.25
, pp. 2168-2177
-
-
Fogo, A.B.1
Bostad, L.2
Svarstad, E.3
-
10
-
-
0036122659
-
Natural history of fabry renal disease: Influence of α- galactosidase a activity and genetic mutations on clinical course
-
DOI 10.1097/00005792-200203000-00003
-
Branton MH, Schiffmann R, Sabnis SG et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 2002; 81: 122-138. (Pubitemid 34218568)
-
(2002)
Medicine
, 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
Goldfarb, L.7
Brady, R.O.8
Balow, J.E.9
Austin III, H.A.10
Kopp, J.B.11
-
11
-
-
31544456336
-
Long-term therapy with agalsidase alfa for Fabry disease: Safety and effects on renal function in a home infusion setting
-
DOI 10.1093/ndt/gfi152
-
Schiffmann R, Ries M, Timmons M et al. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 2006; 21: 345-354. (Pubitemid 43159987)
-
(2006)
Nephrology Dialysis Transplantation
, vol.21
, Issue.2
, pp. 345-354
-
-
Schiffmann, R.1
Ries, M.2
Timmons, M.3
Flaherty, J.T.4
Brady, R.O.5
-
12
-
-
1642496926
-
Effects of enzyme replacement therapy with agalsidase alfa on glomerular filtration rate in patients with Fabry disease: Preliminary data
-
Dehout F, Schwarting A, Beck M et al. Effects of enzyme replacement therapy with agalsidase alfa on glomerular filtration rate in patients with Fabry disease: preliminary data. Acta Paediatr 2003; discussion 5(Suppl 92): 14-15. (Pubitemid 38134743)
-
(2003)
Acta Paediatrica, International Journal of Paediatrics, Supplement
, vol.92
, Issue.443
, pp. 14-15
-
-
Dehout, F.1
Schwarting, A.2
Beck, M.3
Mehta, A.4
Ricci, R.5
Widmer, U.6
-
13
-
-
34248138939
-
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing
-
DOI 10.1681/ASN.2006111263
-
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 2007; 18: 1576-1583. (Pubitemid 46717525)
-
(2007)
Journal of the American Society of Nephrology
, vol.18
, Issue.5
, pp. 1576-1583
-
-
Schiffmann, R.1
Askari, H.2
Timmons, M.3
Robinson, C.4
Benko, W.5
Brady, R.O.6
Ries, M.7
-
14
-
-
65649096032
-
Agalsidase alfa and kidney dysfunction in Fabry disease
-
West M, Nicholls K, Mehta A et al. Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 2009; 20: 1132-1139.
-
(2009)
J Am Soc Nephrol
, vol.20
, pp. 1132-1139
-
-
West, M.1
Nicholls, K.2
Mehta, A.3
-
15
-
-
0017872842
-
Early renal changes in hemizygous and heterozygous patients with Fabry's disease
-
Gubler MC, Lenoir G, Grunfeld JP et al. Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int 1978; 13: 223-235. (Pubitemid 8304328)
-
(1978)
Kidney International
, vol.13
, Issue.3
, pp. 223-235
-
-
Gubler, M.C.1
Lenoir, G.2
Grunfeld, J.P.3
-
16
-
-
34447607076
-
Ein beitrag zur kenntnis der purpura haemorrhagica nodularis
-
Fabry J. Ein beitrag zur kenntnis der purpura haemorrhagica nodularis (Purpura papulosa hemorrhagica Hebrae). Arch Dermatol Syphilis 1898; 43: 187-200.
-
(1898)
Arch Dermatol Syphilis
, vol.43
, pp. 187-200
-
-
Fabry, J.1
-
17
-
-
78651001239
-
Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; Two autopsy reports
-
Pompen AW, Ruiter M, Wyers HJ. Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports. Acta Med Scand 1947; 128: 234-255.
-
(1947)
Acta Med Scand
, vol.128
, pp. 234-255
-
-
Pompen, A.W.1
Ruiter, M.2
Wyers, H.J.3
-
19
-
-
0031626770
-
Fetal pathology in Fabry's disease and mucopolysaccharidosis type i
-
Elleder M, Poupetova H, Kozich V. Fetal pathology in Fabry's disease and mucopolysaccharidosis type I. Cesk Patol 1998; 34: 7-12.
-
(1998)
Cesk Patol
, vol.34
, pp. 7-12
-
-
Elleder, M.1
Poupetova, H.2
Kozich, V.3
-
20
-
-
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 et al. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 1973; 81: 157-171.
-
(1973)
J Lab Clin Med
, vol.81
, pp. 157-171
-
-
Desnick, R.J.1
Allen, K.Y.2
Desnick, S.J.3
-
21
-
-
0022039364
-
Early prenatal diagnosis of inborn error of metabolism: A case report of a fetus affected with Fabry's disease
-
Tsutsumi O, Sato M, Sato K et al. Early prenatal diagnosis of inborn error of metabolism: a case report of a fetus affected with Fabry's disease. Asia Oceania J Obstet Gynaecol 1985; 11: 39-45.
-
(1985)
Asia Oceania J Obstet Gynaecol
, vol.11
, pp. 39-45
-
-
Tsutsumi, O.1
Sato, M.2
Sato, K.3
-
22
-
-
84985280160
-
The efficiency of systematic sampling in stereology and its prediction
-
Gundersen HJ, Jensen EB. The efficiency of systematic sampling in stereology and its prediction. J Microsc 1987; 147: 229-263.
-
(1987)
J Microsc
, vol.147
, pp. 229-263
-
-
Gundersen, H.J.1
Jensen, E.B.2
-
23
-
-
33745058119
-
The podocyte's response to injury: Role in proteinuria and glomerulosclerosis
-
DOI 10.1038/sj.ki.5000410, PII 5000410
-
Shankland SJ. The podocyte's response to injury: role in proteinuria and glomerulosclerosis. Kidney Int 2006; 69: 2131-2147. (Pubitemid 43882099)
-
(2006)
Kidney International
, vol.69
, Issue.12
, pp. 2131-2147
-
-
Shankland, S.J.1
-
25
-
-
49149125138
-
Albumin excretion rate in normal adolescents: Relation to insulin resistance and cardiovascular risk factors and comparisons to type 1 diabetes mellitus patients
-
Rademacher E, Mauer M, Jacobs DRJ et al. Albumin excretion rate in normal adolescents: relation to insulin resistance and cardiovascular risk factors and comparisons to type 1 diabetes mellitus patients. Clin J Am Soc Nephrol 2008; 3: 998-1005.
-
(2008)
Clin J Am Soc Nephrol
, vol.3
, pp. 998-1005
-
-
Rademacher, E.1
Mauer, M.2
Drj, J.3
-
26
-
-
18644369961
-
Widening of foot processes in normoalbuminuric adolescents with type 1 diabetes
-
DOI 10.1007/s00467-005-1829-5
-
Torbjörnsdotter TB, Perrin NE, Jaremko GA et al. Widening of foot processes in normoalbuminuric adolescents with type 1 diabetes. Pediatr Nephrol 2005; 20: 750-758. (Pubitemid 40663157)
-
(2005)
Pediatric Nephrology
, vol.20
, Issue.6
, pp. 750-758
-
-
Torbjornsdotter, T.B.1
Perrin, N.E.S.S.2
Jaremko, G.A.3
Berg, U.B.4
-
27
-
-
34248190164
-
Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with fabry disease
-
DOI 10.1681/ASN.2006080816
-
Germain DP, 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 2007; 18: 1547-1557. (Pubitemid 46717522)
-
(2007)
Journal of the American Society of Nephrology
, vol.18
, Issue.5
, pp. 1547-1557
-
-
Germain, D.P.1
Waldek, S.2
Banikazemi, M.3
Bushinsky, D.A.4
Charrow, J.5
Desnick, R.J.6
Lee, P.7
Loew, T.8
Vedder, A.C.9
Abichandani, R.10
Wilcox, W.R.11
Guffon, N.12
-
28
-
-
0036436320
-
Globotriaosylceramide accumulation in the fabry kidney is cleared from multiple cell types after enzyme replacement therapy
-
DOI 10.1046/j.1523-1755.2002.00675.x
-
Thurberg BL, Rennke H, Colvin RB et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 2002; 62: 1933-1946. (Pubitemid 35366149)
-
(2002)
Kidney International
, 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
Desnick, R.J.7
O'Callaghan, M.8
-
29
-
-
70349316414
-
Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease
-
Lubanda JC, Anijalg E, Bzdúch V et al. Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease. Genet Med 2009; 11: 256-264.
-
(2009)
Genet Med
, vol.11
, pp. 256-264
-
-
Lubanda, J.C.1
Anijalg, E.2
Bzdúch, V.3
-
30
-
-
78650371014
-
Prognostic indicators of renal disease progression in adults with Fabry disease: Natural history data from the Fabry registry
-
[PMID:20813854; e-pub ahead of print]
-
Wanner C, Oliveira JP, Ortiz A et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry registry. Clin J Am Soc Nephrol 2010 [PMID:20813854; e-pub ahead of print].
-
(2010)
Clin J Am Soc Nephrol
-
-
Wanner, C.1
Oliveira, J.P.2
Ortiz, A.3
-
31
-
-
33846908304
-
Agalsidase-beta therapy for advanced fabry disease: A randomized trial
-
Banikazemi M, Bultas J, Waldek S et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007; 146: 77-86. (Pubitemid 351640010)
-
(2007)
Annals of Internal Medicine
, 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
Finkel, R.7
Packman, S.8
Bichet, D.G.9
Warnock, D.G.10
Desnick, R.J.11
-
32
-
-
34547611903
-
Podocyte detachment and reduced glomerular capillary endothelial fenestration in human type 1 diabetic nephropathy
-
DOI 10.2337/db07-0019
-
Toyoda M, Najafian B, Kim Y et al. Podocyte detachment and reduced glomerular capillary endothelial fenestration in human type 1 diabetic nephropathy. Diabetes 2007; 56: 2155-2160. (Pubitemid 47195834)
-
(2007)
Diabetes
, vol.56
, Issue.8
, pp. 2155-2160
-
-
Toyoda, M.1
Najafian, B.2
Kim, Y.3
Caramori, M.L.4
Mauer, M.5
-
33
-
-
69849097516
-
Decreased nitric oxide bioavailability in a mouse model of Fabry disease
-
Shu L, Park JL, Byun J et al. Decreased nitric oxide bioavailability in a mouse model of Fabry disease. J Am Soc Nephrol 2009; 20: 1975-1985.
-
(2009)
J Am Soc Nephrol
, vol.20
, pp. 1975-1985
-
-
Shu, L.1
Park, J.L.2
Byun, J.3
-
34
-
-
0037530556
-
Glomerular structure in the normal human kidney: Differences between living and cadaver donors
-
DOI 10.1097/01.ASN.0000075554.31464.DA
-
Caramori ML, Basgen JM, Mauer M. Glomerular structure in the normal human kidney: differences between living and cadaver donors. J Am Soc Nephrol 2003; 14: 1901-1903. (Pubitemid 36750487)
-
(2003)
Journal of the American Society of Nephrology
, vol.14
, Issue.7
, pp. 1901-1903
-
-
Caramori, M.L.1
Basgen, J.M.2
Mauer, M.3
-
35
-
-
0036068369
-
Cellular basis of diabetic nephropathy: 1. Study design and renal structural-functional relationships in patients with long-standing type 1 diabetes
-
Caramori ML, Kim Y, Huang C et al. Cellular basis of diabetic nephropathy: 1. Study design and renal structural-functional relationships in patients with long-standing type 1 diabetes [published erratum appears in Diabetes 2002; 51: 1294] Diabetes 2002; 51: 506-513. (Pubitemid 34764810)
-
(2002)
Diabetes
, vol.51
, Issue.2
, pp. 506-513
-
-
Luiza Caramori, M.1
Kim, Y.2
Huang, C.3
Fish, A.J.4
Rich, S.S.5
Miller, M.E.6
Russell, G.7
Mauer, M.8
-
36
-
-
0021207350
-
Assessment of proteinuria using
-
random urine samples
-
Houser M. Assessment of proteinuria using random urine samples. J Pediatr 1984; 104: 845-848.
-
(1984)
J Pediatr
, vol.104
, pp. 845-848
-
-
Houser, M.1
|