-
1
-
-
0014216741
-
Enzymatic defect in Fabry's disease
-
Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L: Enzymatic defect in Fabry's disease. N Engl J Med 1967;276:1163-1167.
-
(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
-
-
84980085880
-
A case of angiokeratoma
-
Andersson W: A case of angiokeratoma. Br J Dermatol 1898;10:113-117.
-
(1898)
Br J Dermatol
, vol.10
, pp. 113-117
-
-
Andersson, W.1
-
3
-
-
34447607076
-
Ein beitrag zur kenntnis der purpura haemorrhagica nodularis (purpura papillosa haemorrhagica hebrae)
-
Fabry J: Ein beitrag zur kenntnis der purpura haemorrhagica nodularis (purpura papillosa haemorrhagica hebrae). Arch Dermatol Syph 1898;43:187-200.
-
(1898)
Arch Dermatol Syph
, vol.43
, pp. 187-200
-
-
Fabry, J.1
-
5
-
-
0000889058
-
α-galactosidase deficiency: Fabry disease
-
Schriver CR, Beaudet AL, Sly WS, Valle D (eds). New York, McGraw-Hill
-
Desnick RJ, Ioannou AI, Eng CM: α-galactosidase deficiency: Fabry disease; in Schriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Basis of Inherited Disease, Ed 7. New York, McGraw-Hill, 1995, pp 2741-2784.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease, Ed 7
, pp. 2741-2784
-
-
Desnick, R.J.1
Ioannou, A.I.2
Eng, C.M.3
-
6
-
-
0001089467
-
Fabry's disease: Classification as a sphingolipidosis and partial characterization of a novel glycolipid
-
Sweeley CC, Klionsky B: Fabry's disease: Classification as a sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem 1963;238:3148-3150.
-
(1963)
J Biol Chem
, vol.238
, pp. 3148-3150
-
-
Sweeley, C.C.1
Klionsky, B.2
-
7
-
-
0014964372
-
Fabry's disease: α-galactosidase deficiency
-
Kint JA: Fabry's disease: α-galactosidase deficiency. Science 1970;167:1268-1269.
-
(1970)
Science
, vol.167
, pp. 1268-1269
-
-
Kint, J.A.1
-
8
-
-
0000889058
-
α-galactosidase deficiency: Fabry disease
-
Schriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds). New York, McGraw-Hill
-
Desnick RJ, Ioannou AI, Eng CM: α-galactosidase deficiency: Fabry disease; in Schriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds): The Metabolic and Molecular Basis of Inherited Disease, Ed 8. New York, McGraw-Hill, 2001, pp 3733-3774.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease, Ed 8
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, A.I.2
Eng, C.M.3
-
9
-
-
0015750541
-
Anderson-Fabry disease: A histopathological study of three cases with observations on the mechanism of production of pain
-
Kahn P: Anderson-Fabry disease: A histopathological study of three cases with observations on the mechanism of production of pain. J Neurol Neurosurg Psychiatry 1973;36:1053-1062.
-
(1973)
J Neurol Neurosurg Psychiatry
, vol.36
, pp. 1053-1062
-
-
Kahn, P.1
-
11
-
-
0026751048
-
Fabry disease: Immunocytochemical characterization of neuronal involvement
-
DeVeber GA, Schwarting GA, Kolodny EH, Kowall NW: Fabry disease: Immunocytochemical characterization of neuronal involvement. Ann Neurol 1992;31:409-415.
-
(1992)
Ann Neurol
, vol.31
, pp. 409-415
-
-
DeVeber, G.A.1
Schwarting, G.A.2
Kolodny, E.H.3
Kowall, N.W.4
-
14
-
-
0022654934
-
Cardiovascular manifestations in Fabry's disease
-
Sakuraba H, Yanagawa Y, Igarashi T, Suzuki Y, Suzuki T, Shimoda WK, et al: Cardiovascular manifestations in Fabry's disease. Clin Genet 1986;29:276-283.
-
(1986)
Clin Genet
, vol.29
, pp. 276-283
-
-
Sakuraba, H.1
Yanagawa, Y.2
Igarashi, T.3
Suzuki, Y.4
Suzuki, T.5
Shimoda, W.K.6
-
15
-
-
0017132042
-
Cardiac valvular abnormalities in Fabry disease. Clinical, morphologic and biochemical studies
-
Desnick RJ, Blieden LC, Sharp HL, Hofschire PJ, Moller JH: Cardiac valvular abnormalities in Fabry disease. Clinical, morphologic and biochemical studies. Circulation 1976;54:818-825.
-
(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
-
16
-
-
0017720849
-
Electrographic and vector cardiographic abnormalities in Fabry disease
-
Mehta J, Tuna N, Moller JH, Desnick RJ: Electrographic and vector cardiographic abnormalities in Fabry disease. Am Heart J 1977;93:699-705.
-
(1977)
Am Heart J
, vol.93
, pp. 699-705
-
-
Mehta, J.1
Tuna, N.2
Moller, J.H.3
Desnick, R.J.4
-
17
-
-
0031800927
-
Quantitative analysis of cerebral vasculopathy in patients with Fabry disease
-
Crutchfield KE, Patronas NJ, Dambrosia JM, Frei KP, Banerjee TK, Schiffman R: Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 1998;50:1746-1749.
-
(1998)
Neurology
, vol.50
, pp. 1746-1749
-
-
Crutchfield, K.E.1
Patronas, N.J.2
Dambrosia, J.M.3
Frei, K.P.4
Banerjee, T.K.5
Schiffman, R.6
-
18
-
-
0015915183
-
Replacement therapy for inherited enzyme deficiency: Use of purified ceramidetrihexosidase in Fabry's disease
-
Brady RO, Tallman JF, Johnson WG, Gal AE, Leahy WR, Quirk JM, et al: Replacement therapy for inherited enzyme deficiency: Use of purified ceramidetrihexosidase in Fabry's disease. N Engl J Med 1973;289:9-14.
-
(1973)
N Engl J Med
, vol.289
, pp. 9-14
-
-
Brady, R.O.1
Tallman, J.F.2
Johnson, W.G.3
Gal, A.E.4
Leahy, W.R.5
Quirk, J.M.6
-
19
-
-
0008548181
-
Enzyme therapy. XII. Enzyme therapy in Fabry's disease
-
Desnick RJ, Dean KJ, Grabowski GA, Bishop DF, Sweeley CC: Enzyme therapy. XII. Enzyme therapy in Fabry's disease. Proc Natl Acad Sci USA 1979;76:5326-5330.
-
(1979)
Proc Natl Acad Sci USA
, vol.76
, pp. 5326-5330
-
-
Desnick, R.J.1
Dean, K.J.2
Grabowski, G.A.3
Bishop, D.F.4
Sweeley, C.C.5
-
20
-
-
12944265457
-
Infusion of α-galactosidase A reduces tissue globotriasylceramide storage in patients with Fabry disease
-
Schiffman R, Murray GJ, Treco D, Daniel P, Sello-Moura M, Myers M, et al: Infusion of α-galactosidase A reduces tissue globotriasylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 2000;97:365-370.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 365-370
-
-
Schiffman, R.1
Murray, G.J.2
Treco, D.3
Daniel, P.4
Sello-Moura, M.5
Myers, M.6
-
21
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease. A randomised controlled trial
-
Schiffman R, Kopp JB, Austin HA, Sabnis S, Moore DF, Weibel T, et al: Enzyme replacement therapy in Fabry disease. A randomised controlled trial. JAMA 2001;285:2743-2749.
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffman, R.1
Kopp, J.B.2
Austin, H.A.3
Sabnis, S.4
Moore, D.F.5
Weibel, T.6
-
22
-
-
0035097499
-
A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance and safety studies
-
Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, et al: A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance and safety studies. Am J Hum Genet 2001;68:711-722.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 711-722
-
-
Eng, C.M.1
Banikazemi, M.2
Gordon, R.E.3
Goldman, M.4
Phelps, R.5
Kim, L.6
-
23
-
-
0035811624
-
Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease
-
Eng C, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al: Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16.
-
(2001)
N Engl J Med
, vol.345
, pp. 9-16
-
-
Eng, C.1
Guffon, N.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
Waldek, S.6
-
24
-
-
0001125489
-
The genetics of angiokeratoma corporis diffusum (Fabry's disease) and its linkage with Xg(a) locus
-
Opitz JM, Stiles FC, Wise D, von Gemmingen G, Race RR, Sander R, et al: The genetics of angiokeratoma corporis diffusum (Fabry's disease) and its linkage with Xg(a) locus. Am J Hum Genet 1965;17:325-342.
-
(1965)
Am J Hum Genet
, vol.17
, pp. 325-342
-
-
Opitz, J.M.1
Stiles, F.C.2
Wise, D.3
Von Gemmingen, G.4
Race, R.R.5
Sander, R.6
-
25
-
-
0027237193
-
Physical mapping shows close linkage between the α-galactosidase A gene (GLA) and the DXS178 locus
-
Vetrie D, Bently D, Bobrow M, Harris A: Physical mapping shows close linkage between the α-galactosidase A gene (GLA) and the DXS178 locus. Hum Genet 1993;92:95-99.
-
(1993)
Hum Genet
, vol.92
, pp. 95-99
-
-
Vetrie, D.1
Bently, D.2
Bobrow, M.3
Harris, A.4
-
26
-
-
0024566949
-
Nucleotide sequence of the human α-galactosidase A gene
-
Kornreich R, Desnick RJ, Bishop DF: Nucleotide sequence of the human α-galactosidase A gene. Nucleic Acids Res 1989;17:3301-3302.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 3301-3302
-
-
Kornreich, R.1
Desnick, R.J.2
Bishop, D.F.3
-
27
-
-
0023617601
-
A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, α-galactosidase A
-
Quinn M, Hantzopoulos P, Fidanza V, Calhoun DH: A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, α-galactosidase A. Gene 1987;58:177-188.
-
(1987)
Gene
, vol.58
, pp. 177-188
-
-
Quinn, M.1
Hantzopoulos, P.2
Fidanza, V.3
Calhoun, D.H.4
-
28
-
-
0022540321
-
pG-rich islands and the function of DNA methylation
-
pG-rich islands and the function of DNA methylation. Nature 1986;321:209-213.
-
(1986)
Nature
, vol.321
, pp. 209-213
-
-
Bird, A.P.1
-
29
-
-
73649168584
-
Angiokeratoma corporis diffusum. A clinical study of eight affected families
-
Wise D, Wallace HJ, Jellin EH: Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med 1962;31:177-206.
-
(1962)
Q J Med
, vol.31
, pp. 177-206
-
-
Wise, D.1
Wallace, H.J.2
Jellin, E.H.3
-
31
-
-
0030920511
-
The vascular dementia of Fabry's disease
-
Mendez MF, Stanley TM, Medel NM, Li Z, Tedesco DT: The vascular dementia of Fabry's disease. Dement Geriatr Cogn Disord 1997;8:252-257.
-
(1997)
Dement Geriatr Cogn Disord
, vol.8
, pp. 252-257
-
-
Mendez, M.F.1
Stanley, T.M.2
Medel, N.M.3
Li, Z.4
Tedesco, D.T.5
-
32
-
-
0020052713
-
Fabry disease: Impaired autonomic function
-
Cable WJ, Kolodny EH, Adams RD: Fabry disease: Impaired autonomic function. Neurology 1982;32:498-502.
-
(1982)
Neurology
, vol.32
, pp. 498-502
-
-
Cable, W.J.1
Kolodny, E.H.2
Adams, R.D.3
-
33
-
-
0031764478
-
Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: Response to metoclopramide
-
Argoff CE, Barton NW, Brady RO, Ziessman HA: Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: Response to metoclopramide. Nucl Med Comm 1998;19:887-891.
-
(1998)
Nucl Med Comm
, vol.19
, pp. 887-891
-
-
Argoff, C.E.1
Barton, N.W.2
Brady, R.O.3
Ziessman, H.A.4
-
34
-
-
0023205911
-
Generalised anhidrosis associated with Fabry's disease
-
Kang KH, Chun SI, Lee S: Generalised anhidrosis associated with Fabry's disease. J Am Acad Dermatol 1987;17:883-887.
-
(1987)
J Am Acad Dermatol
, vol.17
, pp. 883-887
-
-
Kang, K.H.1
Chun, S.I.2
Lee, S.3
-
35
-
-
0032211955
-
The ultrastructrural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis
-
Lao LM, Kumakiri M, Mima H, Kuwahara H, Ishida H, Ishiguro K, et al: The ultrastructrural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis. J Dermatol Sci 1998;18:109-117.
-
(1998)
J Dermatol Sci
, vol.18
, pp. 109-117
-
-
Lao, L.M.1
Kumakiri, M.2
Mima, H.3
Kuwahara, H.4
Ishida, H.5
Ishiguro, K.6
-
36
-
-
0027516116
-
Impaired thermoregulation in adults with growth hormone deficiency during heat exposure and exercise
-
Juul A, Behrenscheer A, Tims T, Nielsen B, Halkjaer-Kristensen J, Skakkebaek NE: Impaired thermoregulation in adults with growth hormone deficiency during heat exposure and exercise. Clin Endocrinol 1993;38:237-244.
-
(1993)
Clin Endocrinol
, vol.38
, pp. 237-244
-
-
Juul, A.1
Behrenscheer, A.2
Tims, T.3
Nielsen, B.4
Halkjaer-Kristensen, J.5
Skakkebaek, N.E.6
-
37
-
-
0033739588
-
Sweat secretion rates in growth hormone disorders
-
Sneppen SB, Main KM, Juul A, Pedersen LM, Kristensen LO, Skakkebaek NE, et al: Sweat secretion rates in growth hormone disorders. Clin Endocrinol 2000;53:601-608.
-
(2000)
Clin Endocrinol
, vol.53
, pp. 601-608
-
-
Sneppen, S.B.1
Main, K.M.2
Juul, A.3
Pedersen, L.M.4
Kristensen, L.O.5
Skakkebaek, N.E.6
-
38
-
-
0032944086
-
Quantitative analysis of epidermal innervation in Fabry disease
-
Scott LJ, Griffin JW, Luciano C, Barton NW, Banerjee T, Crawford T, et al: Quantitative analysis of epidermal innervation in Fabry disease. Neurology 1999;52:1249-1254.
-
(1999)
Neurology
, vol.52
, pp. 1249-1254
-
-
Scott, L.J.1
Griffin, J.W.2
Luciano, C.3
Barton, N.W.4
Banerjee, T.5
Crawford, T.6
-
39
-
-
0028265384
-
Capillary changes in angiokeratoma corporis diffusum
-
Jansen W, Lentner A, Genzel I: Capillary changes in angiokeratoma corporis diffusum. J Dermatol Sci 1994;7:68-70.
-
(1994)
J Dermatol Sci
, vol.7
, pp. 68-70
-
-
Jansen, W.1
Lentner, A.2
Genzel, I.3
-
40
-
-
0026510492
-
Fabry's disease without angiokeratomas showing unusual eccrine gland vacuolation
-
Idoate MA, Pardo-Mindan FJ, Gonzales-Alamillo C: Fabry's disease without angiokeratomas showing unusual eccrine gland vacuolation. J Pathol 1992;167:65-68.
-
(1992)
J Pathol
, vol.167
, pp. 65-68
-
-
Idoate, M.A.1
Pardo-Mindan, F.J.2
Gonzales-Alamillo, C.3
-
41
-
-
0023684633
-
Angiokeratoma corporis diffusum (Fabry's disease) with unusual features in a female patient. Light and electron-microscopic investigation
-
Voglino A, Paradisi M, Dompe G, Muda OA, Faraggiana T: Angiokeratoma corporis diffusum (Fabry's disease) with unusual features in a female patient. Light and electron-microscopic investigation. Am J Dermatopathol 1988;10:343-348.
-
(1988)
Am J Dermatopathol
, vol.10
, pp. 343-348
-
-
Voglino, A.1
Paradisi, M.2
Dompe, G.3
Muda, O.A.4
Faraggiana, T.5
-
42
-
-
0013831616
-
Fabry's disease. Its ocular manifestations
-
Spaeth GL, Frost P: Fabry's disease. Its ocular manifestations. Arch Ophthalmol 1965;74:760-769.
-
(1965)
Arch Ophthalmol
, vol.74
, pp. 760-769
-
-
Spaeth, G.L.1
Frost, P.2
-
44
-
-
0018073485
-
Eye findings in the diagnosis of Fabry's disease. Patients with renal failure
-
Bloomfield SE, David DS, Rubin AL: Eye findings in the diagnosis of Fabry's disease. Patients with renal failure. JAMA 1978;240:647-649.
-
(1978)
JAMA
, vol.240
, pp. 647-649
-
-
Bloomfield, S.E.1
David, D.S.2
Rubin, A.L.3
-
46
-
-
0025360465
-
The neurological complications of Anderson-Fabry disease (α-galactosidase A deficiency) - Investigation of symptomatic or presymptomatic patients
-
Morgan SH, Rudge P, Smith SJ, Bronstein AM, Kendall BE, Holly E, et al: The neurological complications of Anderson-Fabry disease (α-galactosidase A deficiency) - Investigation of symptomatic or 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
Bronstein, A.M.4
Kendall, B.E.5
Holly, E.6
-
47
-
-
0018859423
-
Chronic airflow obstruction in Fabry's disease
-
Rosenberg DM, Ferrans VJ, Fulmer JD, Line BR, Barranger JA, Crystal RG: Chronic airflow obstruction in Fabry's disease. Am J Med 1980;68:898-905.
-
(1980)
Am J Med
, vol.68
, pp. 898-905
-
-
Rosenberg, D.M.1
Ferrans, V.J.2
Fulmer, J.D.3
Line, B.R.4
Barranger, J.A.5
Crystal, R.G.6
-
48
-
-
0030939084
-
Pulmonary involvement in Fabry disease
-
Brown LK, Miller A, Bhuptani A, Sloane MF, Zimmerman MI, Schilero G, et al: Pulmonary involvement in Fabry disease. Am J Respir Crit Care Med 1997;155:1004-1010.
-
(1997)
Am J Respir Crit Care Med
, vol.155
, pp. 1004-1010
-
-
Brown, L.K.1
Miller, A.2
Bhuptani, A.3
Sloane, M.F.4
Zimmerman, M.I.5
Schilero, G.6
-
49
-
-
0029891216
-
Cerebrovascular complications of Fabry's disease
-
Mitsias P, Levine SR: Cerebrovascular complications of Fabry's disease. Ann Neurol 1996;40:8-17.
-
(1996)
Ann Neurol
, vol.40
, pp. 8-17
-
-
Mitsias, P.1
Levine, S.R.2
-
50
-
-
0022568861
-
Activation of platelet function in Fabry's disease
-
Igarashi T, Sakaruta H, Suzuki Y: Activation of platelet function in Fabry's disease. Am J Hematol 1986;22:63-67.
-
(1986)
Am J Hematol
, vol.22
, pp. 63-67
-
-
Igarashi, T.1
Sakaruta, H.2
Suzuki, Y.3
-
51
-
-
0034943172
-
Enhanced endothelium-dependent vasodilation in Fabry disease
-
Altarescu G, Moore DF, Pursley R, Campia U, Goldstein S, Bryant M, et al: Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke 2001;32:1559-1562.
-
(2001)
Stroke
, vol.32
, pp. 1559-1562
-
-
Altarescu, G.1
Moore, D.F.2
Pursley, R.3
Campia, U.4
Goldstein, S.5
Bryant, M.6
-
52
-
-
0033950217
-
Profile of endothelial and leukocyte activation in Fabry patients
-
DeGraba T, Azhar S, Dignat-George F, Brown E, Boutiere B, Altarescu G, et al: Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 2000;47:229-233.
-
(2000)
Ann Neurol
, vol.47
, pp. 229-233
-
-
DeGraba, T.1
Azhar, S.2
Dignat-George, F.3
Brown, E.4
Boutiere, B.5
Altarescu, G.6
-
53
-
-
0011772862
-
Kidney involvement in Anderson-Fabry disease
-
Meroni M, Sessa A, Battini G, Tazzari S, Tarelli TL: Kidney involvement in Anderson-Fabry disease. Contrib Nephrol. Basel, Karger, 1998, vol 19, pp 887-891.
-
(1998)
Contrib Nephrol. Basel, Karger
, vol.19
, pp. 887-891
-
-
Meroni, M.1
Sessa, A.2
Battini, G.3
Tazzari, S.4
Tarelli, T.L.5
-
54
-
-
0034614125
-
Clinical features of and recent advances in therapy for Fabry disease
-
Brady RO, Schiffmann R: Clinical features of and recent advances in therapy for Fabry disease. JAMA 2000;284:2771-2775.
-
(2000)
JAMA
, vol.284
, pp. 2771-2775
-
-
Brady, R.O.1
Schiffmann, R.2
-
55
-
-
0017872842
-
Early renal changes in hemizygous patients with Fabry's disease
-
Gubler M-C, Lenoir C, Grünfeld J-P, Ulmann A, Droz D, Habib R: Early renal changes in hemizygous patients with Fabry's disease. Kidney Int 1978;13:223-235.
-
(1978)
Kidney Int
, vol.13
, pp. 223-235
-
-
Gubler, M.-C.1
Lenoir, C.2
Grünfeld, J.-P.3
Ulmann, A.4
Droz, D.5
Habib, R.6
-
56
-
-
0015867775
-
Renal pathological lesions and functional alterations in a man with Fabry's disease
-
Pabico RC, Atanacio BC, McKenna BA, Pamukcoglu T, Yodaiken R: Renal pathological lesions and functional alterations in a man with Fabry's disease. Am J Med 1973;55:415-425.
-
(1973)
Am J Med
, vol.55
, pp. 415-425
-
-
Pabico, R.C.1
Atanacio, B.C.2
McKenna, B.A.3
Pamukcoglu, T.4
Yodaiken, R.5
-
57
-
-
0030858347
-
Fabry's disease presenting with oligoanuric end-stage renal failure
-
Sirvent AE, Enriquez R, Antolin A, Cabezuelo JB, Teruel A, Rodriguez R, et al: Fabry's disease presenting with oligoanuric end-stage renal failure. Nephrol Dial Transplant 1997;12:1503-1505.
-
(1997)
Nephrol Dial Transplant
, vol.12
, pp. 1503-1505
-
-
Sirvent, A.E.1
Enriquez, R.2
Antolin, A.3
Cabezuelo, J.B.4
Teruel, A.5
Rodriguez, R.6
-
58
-
-
0014533509
-
The heart in Fabry's disease. A histochemical and electron microscopic study
-
Ferraus VJ, Hibbs RG, Burda CD: The heart in Fabry's disease. A histochemical and electron microscopic study. Am J Cardiol 1969;24:95-110.
-
(1969)
Am J Cardiol
, vol.24
, pp. 95-110
-
-
Ferraus, V.J.1
Hibbs, R.G.2
Burda, C.D.3
-
59
-
-
0016716506
-
Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrographic evidence of myocardial infarction
-
Becker AE, Schoorl R, Balk AG, van der Heide RM: Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrographic evidence of myocardial infarction. Am J Cardiol 1975;36:829-835.
-
(1975)
Am J Cardiol
, vol.36
, pp. 829-835
-
-
Becker, A.E.1
Schoorl, R.2
Balk, A.G.3
Van der Heide, R.M.4
-
60
-
-
0022578120
-
Echocardiographic abnormalities and disease severity in Fabry's disease
-
Goldman ME, Cantor R, Schwartz MF, Baker M, Desnick RJ: Echocardiographic abnormalities and disease severity in Fabry's disease. J Am Coll Cardiol 1986;7:1157-1161.
-
(1986)
J Am Coll Cardiol
, vol.7
, pp. 1157-1161
-
-
Goldman, M.E.1
Cantor, R.2
Schwartz, M.F.3
Baker, M.4
Desnick, R.J.5
-
61
-
-
0026099642
-
An atypical variant of Fabry's disease with manifestations confined in the myocardium
-
Von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, et al: An atypical variant of Fabry's disease with manifestations confined in the myocardium. N Engl J Med 1991;324:395-399.
-
(1991)
N Engl J Med
, vol.324
, pp. 395-399
-
-
Von Scheidt, W.1
Eng, C.M.2
Fitzmaurice, T.F.3
Erdmann, E.4
Hubner, G.5
Olsen, E.G.6
-
62
-
-
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: Molecular genetic, biochemical and clinical studies in three families with cardiac Fabry's disease. Am J Cardiol 2001;87:71-75.
-
(2001)
Am J Cardiol
, vol.87
, pp. 71-75
-
-
Yoshitama, T.1
Nakao, S.2
Takenaka, T.3
Teraguchi, H.4
Sasaki, T.5
Kodama, C.6
-
63
-
-
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, Budesinsky M, Harzer K, Kustermann-Kuhn B, 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 1990;417:449-455.
-
(1990)
Virchows Arch A, Pathol Anat Histopathol
, vol.417
, pp. 449-455
-
-
Elleder, M.1
Bradova, V.2
Smid, F.3
Budesinsky, M.4
Harzer, K.5
Kustermann-Kuhn, B.6
-
64
-
-
0028395580
-
Possible thyroidal involvement in a case of Fabry disease
-
Tojo K, Oota M, Honda H, Shibasaki T, Sakai O: Possible thyroidal involvement in a case of Fabry disease. Intern Med 1994;33:172-176.
-
(1994)
Intern Med
, vol.33
, pp. 172-176
-
-
Tojo, K.1
Oota, M.2
Honda, H.3
Shibasaki, T.4
Sakai, O.5
-
65
-
-
0014171084
-
Angiokeratoma corporis diffusum: Fabry's disease
-
Colombi A, Kostyal A, Bracher R, Gloor F, Mazzi R, Tholin H: Angiokeratoma corporis diffusum: Fabry's disease. Helv Med Acta 1967;34:67-83.
-
(1967)
Helv Med Acta
, vol.34
, pp. 67-83
-
-
Colombi, A.1
Kostyal, A.2
Bracher, R.3
Gloor, F.4
Mazzi, R.5
Tholin, H.6
-
67
-
-
0033786533
-
Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes
-
Ashton-Prolla P, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ: Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Invest Med 2000;48:227-235.
-
(2000)
J Invest Med
, vol.48
, pp. 227-235
-
-
Ashton-Prolla, P.1
Tong, B.2
Shabbeer, J.3
Astrin, K.H.4
Eng, C.M.5
Desnick, R.J.6
-
68
-
-
0034924174
-
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease
-
Altarescu GM, Goldfarb LG, Park KY, Kaneski C, Jeffries N, Litval S, et al: Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet 2001;60:46-51.
-
(2001)
Clin Genet
, vol.60
, pp. 46-51
-
-
Altarescu, G.M.1
Goldfarb, L.G.2
Park, K.Y.3
Kaneski, C.4
Jeffries, N.5
Litval, S.6
-
69
-
-
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: An atypical variant of Fabry's 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
Kodama, C.4
Tanaka, A.5
Tahara, M.6
-
70
-
-
0001363327
-
Sex chromatin and gene action in the mammalian X-chromosome
-
Lyon MF: Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 1962;12:135-148.
-
(1962)
Am J Hum Genet
, vol.12
, pp. 135-148
-
-
Lyon, M.F.1
-
71
-
-
0034754467
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
-
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.
-
(2001)
J Med Genet
, vol.38
, pp. 769-775
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
72
-
-
0035667062
-
Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes
-
Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann J, Brühl K, Gal A, Bunge S, Beck M: Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 2001;24:715-724.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 715-724
-
-
Whybra, C.1
Kampmann, C.2
Willers, I.3
Davies, J.4
Winchester, B.5
Kriegsmann, J.6
Brühl, K.7
Gal, A.8
Bunge, S.9
Beck, M.10
-
73
-
-
0015583864
-
Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes; α-galactosidase activities in plasma, serum, urine, and leucocytes
-
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 leucocytes. J Lab Clin Med 1978;81:157-171.
-
(1978)
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
-
74
-
-
0015214796
-
Diagnosis of glycosphingolipidoses by urinary-sediment analysis
-
Desnick RJ, Dawson G, Desnick SJ, Sweeley CC, Krivit W: Diagnosis of glycosphingolipidoses by urinary-sediment analysis. N Engl J Med 1971;284:739-744.
-
(1971)
N Engl J Med
, vol.284
, pp. 739-744
-
-
Desnick, R.J.1
Dawson, G.2
Desnick, S.J.3
Sweeley, C.C.4
Krivit, W.5
-
75
-
-
0034133032
-
Five novel mutations in fourteen patients with Fabry disease
-
Rosenberg KM, Schiffmann R, Kaneski C, Brady RO, Sorensen SA, Hasholt L: Five novel mutations in fourteen patients with Fabry disease. Hum Mutat 2000;15:207-208.
-
(2000)
Hum Mutat
, vol.15
, pp. 207-208
-
-
Rosenberg, K.M.1
Schiffmann, R.2
Kaneski, C.3
Brady, R.O.4
Sorensen, S.A.5
Hasholt, L.6
-
76
-
-
0023879639
-
Enzyme replacement in Fabry endothelial cells and fibroblasts: Uptake experiments and electron microscopical studies
-
Hasholt L, Wandall A, Sorensen SA: Enzyme replacement in Fabry endothelial cells and fibroblasts: Uptake experiments and electron microscopical studies. Clin Genet 1988;33:360-371.
-
(1988)
Clin Genet
, vol.33
, pp. 360-371
-
-
Hasholt, L.1
Wandall, A.2
Sorensen, S.A.3
-
77
-
-
0034091578
-
Reduction of globotriaosyl-ceramide in Fabry disease mice by substrate deprivation
-
Abe A, Gregory S, Lee L, Killen PD, Brady RO, Kulkarni A, et al: Reduction of globotriaosyl-ceramide in Fabry disease mice by substrate deprivation. J Clin Invest 2000;105:1563-1571.
-
(2000)
J Clin Invest
, vol.105
, pp. 1563-1571
-
-
Abe, A.1
Gregory, S.2
Lee, L.3
Killen, P.D.4
Brady, R.O.5
Kulkarni, A.6
-
78
-
-
0033930125
-
Glycosphingolipid depletion in Fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase
-
Abe A, Arend LJ, Lee L, Lingwood C, Brady RO, Shayman JA: Glycosphingolipid depletion in Fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase. Kidney Int 2000;57:446-454.
-
(2000)
Kidney Int
, vol.57
, pp. 446-454
-
-
Abe, A.1
Arend, L.J.2
Lee, L.3
Lingwood, C.4
Brady, R.O.5
Shayman, J.A.6
-
79
-
-
0035949059
-
Enzyme replacement therapy for Anderson-Fabry disease
-
Pastores MP, Ravi T: Enzyme replacement therapy for Anderson-Fabry disease. Lancet 2001;358:601-603.
-
(2001)
Lancet
, vol.358
, pp. 601-603
-
-
Pastores, M.P.1
Ravi, T.2
-
80
-
-
0002494004
-
Influence of enzyme replacement therapy (ERT) on Anderson Fabry disease associated hypertropic infiltrative cardiomyopathy (HIC)
-
Kampmann C, Ries M, Bähner F, Kim KS, Bajbouj M, Beck M: Influence of enzyme replacement therapy (ERT) on Anderson Fabry disease associated hypertropic infiltrative cardiomyopathy (HIC). Eur J Pediatr 161:R5.
-
Eur J Pediatr
, vol.161
-
-
Kampmann, C.1
Ries, M.2
Bähner, F.3
Kim, K.S.4
Bajbouj, M.5
Beck, M.6
-
81
-
-
0035949721
-
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease. Reversal by enzyme replacement therapy
-
Moore DF, Scott LTC, Gladwin MT, Altarescu G, Kaneski C, Suzuki K, et al: Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease. Reversal by enzyme replacement therapy. Circulation 2001;104:1506-1512.
-
(2001)
Circulation
, vol.104
, pp. 1506-1512
-
-
Moore, D.F.1
Scott, L.T.C.2
Gladwin, M.T.3
Altarescu, G.4
Kaneski, C.5
Suzuki, K.6
-
82
-
-
0030725023
-
Fabry's disease: A multidisciplinary disorder
-
Peters FP, Sommer A, Vermeulen A, Cheriex EC, Kho TL: Fabry's disease: A multidisciplinary disorder. Postgrad Med J 1997;73:710-712.
-
(1997)
Postgrad Med J
, vol.73
, pp. 710-712
-
-
Peters, F.P.1
Sommer, A.2
Vermeulen, A.3
Cheriex, E.C.4
Kho, T.L.5
-
83
-
-
0035956882
-
Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice
-
Jung S-C, Han IP, Limaye A, Xu R, Gelderman MP, Zerfas P, et al: Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice. Proc Natl Acad Sci USA 2001;98:2676-2681.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 2676-2681
-
-
Jung, S.-C.1
Han, I.P.2
Limaye, A.3
Xu, R.4
Gelderman, M.P.5
Zerfas, P.6
-
84
-
-
12944269059
-
Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells
-
Takenaka T, Murray G, Qin G, Quirk JM, Ohshima T, Qasba P, et al: Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. Proc Natl Acad Sci USA 2000;97:7515-7520.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 7515-7520
-
-
Takenaka, T.1
Murray, G.2
Qin, G.3
Quirk, J.M.4
Ohshima, T.5
Qasba, P.6
-
85
-
-
0029836764
-
Correction in trans for Fabry disease: Expression, secretion, and uptake of α-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector
-
Medin JA, Tudor M, Simovitch R, Quirk JM, Jacobson S, Murray GJ, et al: Correction in trans for Fabry disease: Expression, secretion, and uptake of α-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector. Proc Natl Acad Sci USA 1996;93:7917-7922.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 7917-7922
-
-
Medin, J.A.1
Tudor, M.2
Simovitch, R.3
Quirk, J.M.4
Jacobson, S.5
Murray, G.J.6
-
86
-
-
0035853120
-
Preselective gene therapy for Fabry disease
-
Qin G, Takenada T, Telsch K, Kelley L, Howard T, Levade T, et al: Preselective gene therapy for Fabry disease. Proc Natl Acad Sci USA 2001;98:3428-3433.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 3428-3433
-
-
Qin, G.1
Takenada, T.2
Telsch, K.3
Kelley, L.4
Howard, T.5
Levade, T.6
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