-
1
-
-
0000889058
-
a-Galactosidase a deficiency: Fabry disease
-
Scriver CR, Sly WS, Beaudet AL, Valle D, eds, 8th ed. New York: McGraw-Hill;
-
Desnick R, Ioannou Y, Eng C. a-Galactosidase a deficiency: Fabry disease. In: Scriver CR, Sly WS, Beaudet AL, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001:3733-3734.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3733-3734
-
-
Desnick, R.1
Ioannou, Y.2
Eng, C.3
-
2
-
-
0037177166
-
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
-
Sachdev B, Takenaka T, Teraguchi T, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002;105:1407-1411.
-
(2002)
Circulation
, vol.105
, pp. 1407-1411
-
-
Sachdev, B.1
Takenaka, T.2
Teraguchi, T.3
-
3
-
-
27844440793
-
Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study
-
Rolfs A, Böttcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study. Lancet. 2005;366:1794-1796.
-
(2005)
Lancet
, vol.366
, pp. 1794-1796
-
-
Rolfs, A.1
Böttcher, T.2
Zschiesche, M.3
-
4
-
-
15444367892
-
Fabry disease: Diagnosis and management, with emphasis on the renal manifestations
-
Warnock D. Fabry disease: Diagnosis and management, with emphasis on the renal manifestations. Cur Opin Nephrol Hypertens. 2005;14:87-95.
-
(2005)
Cur Opin Nephrol Hypertens
, vol.14
, pp. 87-95
-
-
Warnock, D.1
-
5
-
-
0037452544
-
Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
-
Desnick RJ, et al. Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346.
-
(2003)
Ann Intern Med
, vol.138
, Issue.4
, pp. 338-346
-
-
Desnick, R.J.1
-
6
-
-
0015209851
-
Ceramide trihexosidosis (Fabry's disease) without skin lesions
-
Clarke JT, Knaack J, Crawhall JC, Wolfe LS. Ceramide trihexosidosis (Fabry's disease) without skin lesions. N Engl J Med. 1971;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
-
7
-
-
0029023150
-
An atypical variant of Fabry disease in men with left ventricular hypertrophy
-
Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry disease in men with left ventricular hypertrophy. N Engl J Med. 1995;333:288-293.
-
(1995)
N Engl J Med
, vol.333
, pp. 288-293
-
-
Nakao, S.1
Takenaka, T.2
Maeda, M.3
-
8
-
-
2342524106
-
Fabry disease in childhood
-
Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr, 2004;144(5 Suppl.): S20-S26.
-
(2004)
J Pediatr
, vol.144
, Issue.5 SUPPL.
-
-
Desnick, R.J.1
Brady, R.O.2
-
9
-
-
0031297359
-
Kidney involvement in Anderson-Fabry disease
-
Meroni M, Sessa A, Battini G, Tazzari S, Torri Tarelli L. Kidney involvement in Anderson-Fabry disease. Contrib Nephrol. 1997;122:178-84.
-
(1997)
Contrib Nephrol
, vol.122
, pp. 178-184
-
-
Meroni, M.1
Sessa, A.2
Battini, G.3
Tazzari, S.4
Torri Tarelli, L.5
-
10
-
-
12444319931
-
Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype
-
Nakao S, Kodama C, Takenaka T, et al. Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int. 2003;64(3):801-807.
-
(2003)
Kidney Int
, vol.64
, Issue.3
, pp. 801-807
-
-
Nakao, S.1
Kodama, C.2
Takenaka, T.3
-
11
-
-
0041352960
-
Alpha-galactosidase A deficiency in Dutch patients on dialysis: A critical appraisal of screening for Fabry disease
-
Linthorst GE, Hollak CE, Korevaar JC, et al. Alpha-galactosidase A deficiency in Dutch patients on dialysis: A critical appraisal of screening for Fabry disease. Nephrol Dial Transplant. 2003;18:1581-1584.
-
(2003)
Nephrol Dial Transplant
, vol.18
, pp. 1581-1584
-
-
Linthorst, G.E.1
Hollak, C.E.2
Korevaar, J.C.3
-
12
-
-
0033585476
-
Prevalence of lysosomal storage disorders
-
Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA. 1999;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
-
13
-
-
11144355110
-
Results of a nationwide screening for Anderson-Fabry disease among dialysis patients
-
Kotanko P, Kramar R, Devrnja D, et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol. 2004;15:1323-1329.
-
(2004)
J Am Soc Nephrol
, vol.15
, pp. 1323-1329
-
-
Kotanko, P.1
Kramar, R.2
Devrnja, D.3
-
14
-
-
0036145366
-
Patients with Fabry disease on dialysis in the United States
-
Thadhani R, Wolf M, West ML, et al. Patients with Fabry disease on dialysis in the United States. Kidney Int. 2002;61(1):249-255.
-
(2002)
Kidney Int
, vol.61
, Issue.1
, pp. 249-255
-
-
Thadhani, R.1
Wolf, M.2
West, M.L.3
-
15
-
-
54249152139
-
-
Nunes ACF, Delgado V, Porsch DB, et al. Fabry disease and hemodialysis: Determining a procedure for blood collecting on a Brazilian screening. Book of Abstracts. Rio de Janeiro, Brazil: World Congress of Nephrology; 2007: 279.
-
Nunes ACF, Delgado V, Porsch DB, et al. Fabry disease and hemodialysis: Determining a procedure for blood collecting on a Brazilian screening. Book of Abstracts. Rio de Janeiro, Brazil: World Congress of Nephrology; 2007: 279.
-
-
-
-
16
-
-
0034970245
-
Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper
-
Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta. 2001;308(1-2):195-196.
-
(2001)
Clin Chim Acta
, vol.308
, Issue.1-2
, pp. 195-196
-
-
Chamoles, N.A.1
Blanco, M.2
Gaggioli, D.3
-
17
-
-
0025360465
-
The neurological complications of Anderson-Fabry disease (alpha-Galactosidase A deficiency): Investigation of symptomatic and presymptomatic patients
-
Morgan SH, Rudge P, Smith SJ, et al. The neurological complications of Anderson-Fabry disease (alpha-Galactosidase A deficiency): Investigation of symptomatic and presymptomatic patients. Q J Med. 1990;75:491-507.
-
(1990)
Q J Med
, vol.75
, pp. 491-507
-
-
Morgan, S.H.1
Rudge, P.2
Smith, S.J.3
-
18
-
-
0041930936
-
How to improve the early diagnosis of Fabry disease?
-
Grünfeld J-P. How to improve the early diagnosis of Fabry disease? Kidney Int. 2003;64:1136-1137.
-
(2003)
Kidney Int
, vol.64
, pp. 1136-1137
-
-
Grünfeld, J.-P.1
-
19
-
-
54249137033
-
-
Biagini G, Pecoits RRPF, and Weber HHMW. Prevalence of Fabry disease in patients with chronic renal insufficiency undergoing hemodialysis in the State of Paraná - Brazil. Book of Abstracts. Rio de Janeiro, Brazil: World Congress of Nephrology; 2007: 386.
-
Biagini G, Pecoits RRPF, and Weber HHMW. Prevalence of Fabry disease in patients with chronic renal insufficiency undergoing hemodialysis in the State of Paraná - Brazil. Book of Abstracts. Rio de Janeiro, Brazil: World Congress of Nephrology; 2007: 386.
-
-
-
-
20
-
-
54249087358
-
-
Delgado V, Nunes ACF, Canuto M, et al. Fabry disease epidemiology in Rio de Janeiro State: Partial outcome of screening in patients on dialysis treatment. Book of Abstracts. Rio de Janeiro, Brazil: World Congress of Nephrology; 2007: 280.
-
Delgado V, Nunes ACF, Canuto M, et al. Fabry disease epidemiology in Rio de Janeiro State: Partial outcome of screening in patients on dialysis treatment. Book of Abstracts. Rio de Janeiro, Brazil: World Congress of Nephrology; 2007: 280.
-
-
-
-
21
-
-
54249096276
-
-
Tumialán C, Carvalho C, Chavez R., et al. Prevalence in Peru of Fabry disease among males with chronic renal insufficiency. Book of Abstracts. San Jose, Costa Rica: X Latin American Symposium in Lysosomal Storage Disease; 2005: 191.
-
Tumialán C, Carvalho C, Chavez R., et al. Prevalence in Peru of Fabry disease among males with chronic renal insufficiency. Book of Abstracts. San Jose, Costa Rica: X Latin American Symposium in Lysosomal Storage Disease; 2005: 191.
-
-
-
-
22
-
-
54249115688
-
-
Martínez JA, Ardila ME, Gamarra G, at al. Prevalence of Fabry disease in Colombia - preliminary report. Book of Abstracts. San Jose, Costa Rica: X Latin American Symposium in Lysosomal Storage Disease; 2005: 237.
-
Martínez JA, Ardila ME, Gamarra G, at al. Prevalence of Fabry disease in Colombia - preliminary report. Book of Abstracts. San Jose, Costa Rica: X Latin American Symposium in Lysosomal Storage Disease; 2005: 237.
-
-
-
-
23
-
-
26244468125
-
Significance of screening for Fabry disease among male dialysis patients
-
Ichinose M, Nakayama M, Ohashi T, et al. Significance of screening for Fabry disease among male dialysis patients. Clin Exp Nephrol. 2005;9:228-232.
-
(2005)
Clin Exp Nephrol
, vol.9
, pp. 228-232
-
-
Ichinose, M.1
Nakayama, M.2
Ohashi, T.3
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