-
1
-
-
0014216741
-
Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency
-
Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L: Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 276:1163-1167, 1967
-
(1967)
N Engl J Med
, vol.276
, pp. 1163-1167
-
-
Brady, R.O.1
Gal, A.E.2
Bradley, R.M.3
Martensson, E.4
Warshaw, A.L.5
Laster, L.6
-
2
-
-
0014964372
-
Fabry disease: α-Galactosidase deficiency
-
Klint JA: Fabry disease: α-Galactosidase deficiency. Science 167:1268-1269, 1970
-
(1970)
Science
, vol.167
, pp. 1268-1269
-
-
Klint, J.A.1
-
3
-
-
0000889058
-
α-galactosidase A deficiency: Fabry disease
-
Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds). New York, NY, McGraw-Hill
-
Desnick RJ, Ioannou YA, Eng CM: α-Galactosidase A deficiency: Fabry disease, in Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds): The Metabolic and Molecular Bases of Inherited Disease (ed 8). New York, NY, McGraw-Hill, 2001, pp 3733-3774
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease (Ed 8)
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
4
-
-
0001190230
-
A morphological study of the renal lesion in angiokeratoma corporis diffusum universale (Fabry's disease)
-
McNary W, Lowenstein L: A morphological study of the renal lesion in angiokeratoma corporis diffusum universale (Fabry's disease). J Urol 93:641, 1965
-
(1965)
J Urol
, vol.93
, pp. 641
-
-
McNary, W.1
Lowenstein, L.2
-
5
-
-
0015867775
-
Renal pathologic lesions and functional alterations in a man with Fabry's disease
-
Pabico RC, Atancio BC, McKenna BA, Pamukcoglu T, Yodaiken R: Renal pathologic lesions and functional alterations in a man with Fabry's disease. Am J Med 55:415-425, 1973
-
(1973)
Am J Med
, vol.55
, pp. 415-425
-
-
Pabico, R.C.1
Atancio, B.C.2
McKenna, B.A.3
Pamukcoglu, T.4
Yodaiken, R.5
-
6
-
-
0017132042
-
Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies
-
Desnick RJ, Blieden LC, Sharp HL, Hofschire PJ, Moller JH: Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies. Circulation 54:818-825, 1976
-
(1976)
Circulation
, vol.54
, pp. 818-825
-
-
Desnick, R.J.1
Blieden, L.C.2
Sharp, H.L.3
Hofschire, P.J.4
Moller, J.H.5
-
7
-
-
0002403834
-
The sex chromosome and X chromosome inactivation
-
Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds). New York, NY, McGraw-Hill
-
Willard HF: The sex chromosome and X chromosome inactivation, in Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds): The Metabolic and Molecular Bases of Inherited Disease (ed 8). New York, NY, McGraw-Hill, 2001, pp 1191-1212
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease (Ed 8)
, pp. 1191-1212
-
-
Willard, H.F.1
-
8
-
-
0000130432
-
The renal lesion in angiokeratoma corporis diffusum
-
Colley J, Miller D, Huntt M, Wallace H: The renal lesion in angiokeratoma corporis diffusum. Br Med J 1:1266-1268, 1958
-
(1958)
Br Med J
, vol.1
, pp. 1266-1268
-
-
Colley, J.1
Miller, D.2
Huntt, M.3
Wallace, H.4
-
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 122:178-184, 1997
-
(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
-
-
0001511860
-
Heritable metabolic diseases
-
Jennette JC, Olson JL, Schwartz MM, Silva FG (eds). Philadelphia, PA, Lippincott-Raven
-
Bernstein J, Churg J: Heritable metabolic diseases, in Jennette JC, Olson JL, Schwartz MM, Silva FG (eds): Heptinstall's Pathology of the Kidney. Philadelphia, PA, Lippincott-Raven, 1999, pp 1289-1292
-
(1999)
Heptinstall's Pathology of the Kidney
, pp. 1289-1292
-
-
Bernstein, J.1
Churg, J.2
-
11
-
-
0036122659
-
Natural history of Fabry renal disease: Influence of α -galactosidase A activity and genetic mutations on clinical course
-
Branton MH, Schiffmann R, Sabnis SG, et al: Natural history of Fabry renal disease: Influence of α-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81:122-138, 2002
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 122-138
-
-
Branton, M.H.1
Schiffmann, R.2
Sabnis, S.G.3
-
12
-
-
0036436320
-
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
-
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 62:1933-1946, 2002
-
(2002)
Kidney Int
, vol.62
, pp. 1933-1946
-
-
Thurberg, B.L.1
Rennke, H.2
Colvin, R.B.3
-
13
-
-
0014171084
-
Angiokeratoma corporis diffusum-Fabry's disease
-
Colombi A, Kostyal A, Bracher R, Gloor F, Mazzi R, Tholen H: Angiokeratoma corporis diffusum-Fabry's disease. Helv Med Acta 34:67-83, 1967
-
(1967)
Helv Med Acta
, vol.34
, pp. 67-83
-
-
Colombi, A.1
Kostyal, A.2
Bracher, R.3
Gloor, F.4
Mazzi, R.5
Tholen, H.6
-
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 61:249-255, 2002
-
(2002)
Kidney Int
, vol.61
, pp. 249-255
-
-
Thadhani, R.1
Wolf, M.2
West, M.L.3
-
15
-
-
0034660663
-
Excellent outcome of renal transplantation in patients with Fabry's disease
-
Ojo A, Meier-Kriesche HU, Friedman G, et al: Excellent outcome of renal transplantation in patients with Fabry's disease. Transplantation 69:2337-2339, 2000
-
(2000)
Transplantation
, vol.69
, pp. 2337-2339
-
-
Ojo, A.1
Meier-Kriesche, H.U.2
Friedman, G.3
-
16
-
-
0025049304
-
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy
-
Elleder M, Bradova V, Smid F, et al: Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol 417:449-455, 1990
-
(1990)
Virchows Arch A Pathol Anat Histopathol
, vol.417
, pp. 449-455
-
-
Elleder, M.1
Bradova, V.2
Smid, F.3
-
17
-
-
0026099642
-
An atypical variant of Fabry's disease with manifestations confined to the myocardium
-
von Scheidt W, Eng CM, Fitzmaurice TF, et al: An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 324:395-399, 1991
-
(1991)
N Engl J Med
, vol.324
, pp. 395-399
-
-
Von Scheidt, W.1
Eng, C.M.2
Fitzmaurice, T.F.3
-
18
-
-
0025971051
-
Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A
-
Nagao Y, Nakashima H, Fukuhara Y, et al: Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A. Clin Genet 39:233-237, 1991
-
(1991)
Clin Genet
, vol.39
, pp. 233-237
-
-
Nagao, Y.1
Nakashima, H.2
Fukuhara, Y.3
-
19
-
-
0029023150
-
An atypical variant of Fabry's disease in men with left ventricular hypertrophy
-
Nakao S, Takenaka T, Maeda M, et al: An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333:288-293, 1995
-
(1995)
N Engl J Med
, vol.333
, pp. 288-293
-
-
Nakao, S.1
Takenaka, T.2
Maeda, M.3
-
20
-
-
0037177166
-
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
-
Sachdev B, Takenaka T, Teraguchi H, et al: Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105:1407-1411, 2002
-
(2002)
Circulation
, vol.105
, pp. 1407-1411
-
-
Sachdev, B.1
Takenaka, T.2
Teraguchi, H.3
-
21
-
-
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 284:233-235, 1971
-
(1971)
N Engl J Med
, vol.284
, pp. 233-235
-
-
Clarke, J.T.1
Knaack, J.2
Crawhall, J.C.3
Wolfe, L.S.4
-
22
-
-
0030926514
-
Fabry disease: Thirty-five mutations in the α-galactosidase A gene in patients with classic and variant phenotypes
-
Eng CM, Ashley GA, Burgert TS, Enriquez AL, D'Souza M, Desnick RJ: Fabry disease: Thirty-five mutations in the α-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 3:174-182, 1997
-
(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
Desnick, R.J.6
-
23
-
-
0033786533
-
22 Novel mutations in the α-galactosidase A gene and genotype/phenotype correlations including mild hemizygotes and severely affected heterozygotes
-
Ashton-Prolla P, Tong B, Astrin KH, Shabbeer J, Eng CM, Desnick RJ: 22 novel mutations in the α-galactosidase A gene and genotype/phenotype correlations including mild hemizygotes and severely affected heterozygotes. J Invest Med 48:227-235, 2000
-
(2000)
J Invest Med
, vol.48
, pp. 227-235
-
-
Ashton-Prolla, P.1
Tong, B.2
Astrin, K.H.3
Shabbeer, J.4
Eng, C.M.5
Desnick, R.J.6
-
24
-
-
0028181097
-
Human α-galactosidase gene expression: Significance of two peptide regions encoded by exons 1- 2 and 6
-
Ishii S, Kase R, Sakuraba H, et al: Human α-galactosidase gene expression: Significance of two peptide regions encoded by exons 1-2 and 6. Biochim Biophys Acta 1204: 265-270, 1994
-
(1994)
Biochim Biophys Acta
, vol.1204
, pp. 265-270
-
-
Ishii, S.1
Kase, R.2
Sakuraba, H.3
-
25
-
-
0025064445
-
Identification of point mutations in the α-galactosidase A gene in classical and atypical hemizygotes with Fabry disease
-
Sakuraba H, Oshima A, Fukuhara Y, et al: Identification of point mutations in the α-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet 47:784-789, 1990
-
(1990)
Am J Hum Genet
, vol.47
, pp. 784-789
-
-
Sakuraba, H.1
Oshima, A.2
Fukuhara, Y.3
-
26
-
-
0015583864
-
Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. α-Galactosidase activities in plasma, serum, urine, and leukocytes
-
Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W: Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. α-Galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 81:157-171, 1973
-
(1973)
J Lab Clin Med
, vol.81
, 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
-
27
-
-
0027318662
-
Fabry disease: Detection of gene rearrangements in the human α-galactosidase A gene by multiplex PCR amplification
-
Kornreich R, Desnick RJ: Fabry disease: Detection of gene rearrangements in the human α-galactosidase A gene by multiplex PCR amplification. Hum Mutat 2:108-111, 1993
-
(1993)
Hum Mutat
, vol.2
, pp. 108-111
-
-
Kornreich, R.1
Desnick, R.J.2
-
28
-
-
0026506110
-
Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease
-
Ishii S, Sakuraba H, Suzuki Y: Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum Genet 89:29-32, 1992
-
(1992)
Hum Genet
, vol.89
, pp. 29-32
-
-
Ishii, S.1
Sakuraba, H.2
Suzuki, Y.3
-
29
-
-
0027787898
-
Characterization of a mutant α-galactosidase gene product for the lateonset cardiac form of Fabry disease
-
Ishii S, Kase R, Sakuraba H, Suzuki Y: Characterization of a mutant α-galactosidase gene product for the lateonset cardiac form of Fabry disease. Biochem Biophys Res Commun 197:1585-1589, 1993
-
(1993)
Biochem Biophys Res Commun
, vol.197
, pp. 1585-1589
-
-
Ishii, S.1
Kase, R.2
Sakuraba, H.3
Suzuki, Y.4
-
30
-
-
0034659627
-
Characterization of two α-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease
-
Kase R, Bierfreund U, Klein A, et al: Characterization of two α-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. Biochim Biophys Acta 1501:227-235, 2000
-
(2000)
Biochim Biophys Acta
, vol.1501
, pp. 227-235
-
-
Kase, R.1
Bierfreund, U.2
Klein, A.3
-
31
-
-
0027491109
-
Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease
-
Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ: Nature and frequency of mutations in the α-galactosidase A gene that cause Fabry disease. Am J Hum Genet 53:1186-1197, 1993
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1186-1197
-
-
Eng, C.M.1
Resnick-Silverman, L.A.2
Niehaus, D.J.3
Astrin, K.H.4
Desnick, R.J.5
-
32
-
-
0033276655
-
Twenty novel mutations in the α-galactosidase A gene causing Fabry disease
-
Topaloglu AK, Ashley GA, Tong B, et al: Twenty novel mutations in the α-galactosidase A gene causing Fabry disease. Mol Med 5:806-811, 1999
-
(1999)
Mol Med
, vol.5
, pp. 806-811
-
-
Topaloglu, A.K.1
Ashley, G.A.2
Tong, B.3
-
33
-
-
0035035316
-
Fabry disease: Twenty novel α-galactosidase A mutations causing the classical phenotype
-
Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ: Fabry disease: Twenty novel α-galactosidase A mutations causing the classical phenotype. J Hum Genet 46:192-196, 2001
-
(2001)
J Hum Genet
, vol.46
, pp. 192-196
-
-
Ashley, G.A.1
Shabbeer, J.2
Yasuda, M.3
Eng, C.M.4
Desnick, R.J.5
-
34
-
-
0034924174
-
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease
-
Altarescu GM, Goldfarb LG, Park KY, et al: Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet 60:46-51, 2001
-
(2001)
Clin Genet
, vol.60
, pp. 46-51
-
-
Altarescu, G.M.1
Goldfarb, L.G.2
Park, K.Y.3
-
35
-
-
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: Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int 13:223-235, 1978
-
(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
Habib, R.6
-
37
-
-
0035097499
-
A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies
-
Eng CM, Banikazemi M, Gordon R, et al: A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68:711-722, 2001
-
(2001)
Am J Hum Genet
, vol.68
, pp. 711-722
-
-
Eng, C.M.1
Banikazemi, M.2
Gordon, R.3
-
38
-
-
0035811624
-
Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox WR, et al: Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 345:9-16, 2001
-
(2001)
N Engl J Med
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
Guffon, N.2
Wilcox, W.R.3
-
39
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA 3rd, et al: Enzyme replacement therapy in Fabry disease: A randomized controlled trial. JAMA 285:2743-2749, 2001
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin III, H.A.3
-
40
-
-
0037237933
-
Enzyme replacement therapy in Anderson-Fabry's disease: Beneficial clinical effect on vital organ function
-
De Schoenmakere G, Chauveau D, Grunfeld JP: Enzyme replacement therapy in Anderson-Fabry's disease: Beneficial clinical effect on vital organ function. Nephrol Dial Transplant 18:33-35, 2003
-
(2003)
Nephrol Dial Transplant
, vol.18
, pp. 33-35
-
-
De Schoenmakere, G.1
Chauveau, D.2
Grunfeld, J.P.3
|