-
1
-
-
34447607076
-
Beitrag zur kennthis der purpura heamorrhagica nodularis
-
Fabry, J. Beitrag zur Kennthis der Purpura heamorrhagica nodularis. Arch Dermatol Syph 1898, 43: 187.
-
(1898)
Arch Dermatol Syph
, vol.43
, pp. 187
-
-
Fabry, J.1
-
2
-
-
84980085880
-
A case of angio-keratoma
-
Anderson, W. A case of angio-keratoma. Br J Derm 1898, 10: 13.
-
(1898)
Br J Derm
, vol.10
, pp. 13
-
-
Anderson, W.1
-
3
-
-
0001089467
-
Fabry disease: Classification as a sphingolipidosis and partial characterization of a novel glycolipid
-
Sweeley, C.C., Klionsky, B. Fabry disease: Classification as a sphingolipidosis and partial characterization of a novel glycolipid. J Biolog Chem 1963, 238: 3148-50.
-
(1963)
J Biolog Chem
, vol.238
, pp. 3148-3150
-
-
Sweeley, C.C.1
Klionsky, B.2
-
4
-
-
0014216741
-
Enzymatic defect in Fabry's disease
-
Brady, R.O., Gal, A.E., Bradley, R.M., Martensson, E., Warshaw, A.L., Laaster, L. Enzymatic defect in Fabry's disease. N Engl J Med 1967, 276: 1163.
-
(1967)
N Engl J Med
, vol.276
, pp. 1163
-
-
Brady, R.O.1
Gal, A.E.2
Bradley, R.M.3
Martensson, E.4
Warshaw, A.L.5
Laaster, L.6
-
5
-
-
0030725023
-
Fabry's disease: A multidisciplinary disorder
-
Peters, F.P.J., Sommer, A., Vermeulen, A., Cheriex, E.C., Kho, T.L. Fabry's disease: A multidisciplinary disorder. Postgrad Med J 1997, 73: 710-2.
-
(1997)
Postgrad Med J
, vol.73
, pp. 710-712
-
-
Peters, F.P.J.1
Sommer, A.2
Vermeulen, A.3
Cheriex, E.C.4
Kho, T.L.5
-
6
-
-
0019427530
-
Light- and electron-microscopic histochemistry of Fabry's disease
-
Faraggiana, T., Churg, J., Grishman, E. et al. Light- and electron-microscopic histochemistry of Fabry's disease. Am J Pathol 1981, 103: 247-62.
-
(1981)
Am J Pathol
, vol.103
, pp. 247-262
-
-
Faraggiana, T.1
Churg, J.2
Grishman, E.3
-
7
-
-
0019537188
-
Ten-year experience in renal transplantation for Fabry's disease
-
Maizel, S.E., Simmons, R.L., Kjellstrand, C., Fryd, D.S. Ten-year experience in renal transplantation for Fabry's disease. Transplant Proc 1981, 13: 57-9.
-
(1981)
Transplant Proc
, vol.13
, pp. 57-59
-
-
Maizel, S.E.1
Simmons, R.L.2
Kjellstrand, C.3
Fryd, D.S.4
-
8
-
-
0014171084
-
Angiokeratoma corporis diffusum - Fabry's disease
-
Colombi, A., Kostyal, A., Bracher, R. et al. 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
-
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. Neurol Neurosurg Psychiatry 1973, 36: 1053-62.
-
(1973)
Neurol Neurosurg Psychiatry
, vol.36
, pp. 1053-1062
-
-
Kahn, P.1
-
10
-
-
0344443401
-
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease
-
Schiffmann, R., Floeter, M.K., Dambrosia, J.M. et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 2003, 28: 703-10.
-
(2003)
Muscle Nerve
, vol.28
, pp. 703-710
-
-
Schiffmann, R.1
Floeter, M.K.2
Dambrosia, J.M.3
-
11
-
-
33645083685
-
High prevalence of gastrointestinal symptoms in Fabry's disease
-
Fiedler, L., Ashton-Prolla, P., Eng, C., Babyatsky, M.W. High prevalence of gastrointestinal symptoms in Fabry's disease. Gastroenterology 1998, 114 (4 Part. 2): A369.
-
(1998)
Gastroenterology
, vol.114
, Issue.4 PART 2
-
-
Fiedler, L.1
Ashton-Prolla, P.2
Eng, C.3
Babyatsky, M.W.4
-
12
-
-
0028052980
-
Stroke in Fabry's disease
-
Grewal, R.P. Stroke in Fabry's disease. J Neurol 1994, 241: 153-6.
-
(1994)
J Neurol
, vol.241
, pp. 153-156
-
-
Grewal, R.P.1
-
13
-
-
0025360465
-
The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency) - Ivestigation of symptomatic and presymptomatic patients
-
Morgan, S.H., Rudge, P., Smith, S. et al. The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency) - Ivestigation 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.3
-
14
-
-
12644253826
-
Rare diseases in renal replacement therapy in the ERA-EDTA Registry
-
Tsakiris, D. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrology Dialysis Transplantation 1996, 11: 4-20.
-
(1996)
Nephrology Dialysis Transplantation
, vol.11
, pp. 4-20
-
-
Tsakiris, D.1
-
15
-
-
0030939084
-
Pulmonary involvement in Fabry disease
-
Brown, L.K., Miller, A., Bhuptani, A. et al. Pulmonary involvement in Fabry disease. Am J Respir Crit Care Med 1997, 155: 1004-10.
-
(1997)
Am J Respir Crit Care Med
, vol.155
, pp. 1004-1010
-
-
Brown, L.K.1
Miller, A.2
Bhuptani, A.3
-
16
-
-
0018772331
-
Fabry's disease with familial lymphedema of the lower limbs
-
Gemignani, F., Pietrini, Y., Tagliavini, F. et al. Fabry's disease with familial lymphedema of the lower limbs. Eur Neurol 1979, 18: 84.
-
(1979)
Eur Neurol
, vol.18
, pp. 84
-
-
Gemignani, F.1
Pietrini, Y.2
Tagliavini, F.3
-
17
-
-
0037177166
-
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy
-
Sachdev, B.T., Takenaka, T., Teraguchi, H. et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circul 2002, 105: 1407-4.
-
(2002)
Circul
, vol.105
, pp. 1407-1414
-
-
Sachdev, B.T.1
Takenaka, T.2
Teraguchi, H.3
-
18
-
-
0035149822
-
Cardiac manifestations in Fabry disease
-
Linhart, A., Lubanda, J., Palecek, T. et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001, 24 (Suppl. 2): 75-83.
-
(2001)
J Inherit Metab Dis
, vol.24
, Issue.SUPPL. 2
, pp. 75-83
-
-
Linhart, A.1
Lubanda, J.2
Palecek, T.3
-
19
-
-
0026099642
-
An atypical variant of Fabry's disease with manifestations confined to the myocardium
-
Von Sheidt, W., Eng, C.M., Fitzmaurice, T.F. et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 1991, 324: 395-9.
-
(1991)
N Engl J Med
, vol.324
, pp. 395-399
-
-
Von Sheidt, W.1
Eng, C.M.2
Fitzmaurice, T.F.3
-
20
-
-
0029023150
-
An atypical variant of Fabry disease in men with left ventricular hypertrophy
-
Nakao, S., Taknaka, T., Maeda, M. et al. An atypical variant of Fabry disease in men with left ventricular hypertrophy. N Engl J Med 1995, 333: 288-93.
-
(1995)
N Engl J Med
, vol.333
, pp. 288-293
-
-
Nakao, S.1
Taknaka, T.2
Maeda, M.3
-
21
-
-
12444319931
-
Fabry disease: Detection of undiagnosed hemodialysis patients and indentification of a renal variant phenotype
-
Nakao, S., Kodama, C., Takenak, Y., Yasumoto, Y. Fabry disease: Detection of undiagnosed hemodialysis patients and indentification of a renal variant phenotype. Kidney Inter 2003, 64: 801-7.
-
(2003)
Kidney Inter
, vol.64
, pp. 801-807
-
-
Nakao, S.1
Kodama, C.2
Takenak, Y.3
Yasumoto, Y.4
-
22
-
-
0036145366
-
Patients with Fabry disease on dialysis in the United States
-
Thadhani, R., Wolf, M., West, M.L. et al. Patients with Fabry disease on dialysis in the United States. Kidney Int 2002, 61: 249-55.
-
(2002)
Kidney Int
, vol.61
, pp. 249-255
-
-
Thadhani, R.1
Wolf, M.2
West, M.L.3
-
23
-
-
0018251339
-
Neurological manifestations of Fabry disease in female carriers
-
Bird, T.D., Lagunoff, D.L. Neurological manifestations of Fabry disease in female carriers. Ann Neurol 1978, 4: 537-40.
-
(1978)
Ann Neurol
, vol.4
, pp. 537-540
-
-
Bird, T.D.1
Lagunoff, D.L.2
-
24
-
-
0021808085
-
Fabry's disease in a heterozygous woman
-
Rodriguez, F.H. Jr., Hoffmann, E.O., Ordinario, A.T. Jr., Baliga, M. Fabry's disease in a heterozygous woman. Arch Pathol Lab Med 1985, 109: 89-91.
-
(1985)
Arch Pathol Lab Med
, vol.109
, pp. 89-91
-
-
Rodriguez Jr., F.H.1
Hoffmann, E.O.2
Ordinario Jr., A.T.3
Baliga, M.4
-
25
-
-
0018403928
-
The ocular manifestations in Fabry disease
-
Sher, N.A., Letson, R.D., Desnick, R.J. The ocular manifestations in Fabry disease. Arch Ophthalmol 1979, 97: 671-6.
-
(1979)
Arch Ophthalmol
, vol.97
, pp. 671-676
-
-
Sher, N.A.1
Letson, R.D.2
Desnick, R.J.3
-
26
-
-
0026023199
-
Different phenotypic expression of Fabry disease in females
-
Levade, T., Giordano, F., Maret, A., Marguery, M.-C., Bazex, J., Salvayre, R. Different phenotypic expression of Fabry disease in females. J Inherit Metab Dis 1991, 14: 105.
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 105
-
-
Levade, T.1
Giordano, F.2
Maret, A.3
Marguery, M.-C.4
Bazex, J.5
Salvayre, R.6
-
27
-
-
33645079862
-
The patients' perspective on pain of Fabry disease
-
Vancouver, Canada, Poster #724
-
Gibas, A., Klatt, R., Johnson, J., Clarke, J., Katz, J. The patients' perspective on pain of Fabry disease. American Pain Society Annual Meeting, Vancouver, Canada, 2004, Poster #724.
-
(2004)
American Pain Society Annual Meeting
-
-
Gibas, A.1
Klatt, R.2
Johnson, J.3
Clarke, J.4
Katz, J.5
-
28
-
-
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. et al. 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 Investig Med 2000, 48: 227-35.
-
(2000)
J Investig Med
, vol.48
, pp. 227-235
-
-
Ashton-Prolla, P.1
Tong, B.2
Shabbeer, J.3
-
29
-
-
12944265457
-
Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
-
Schiffmann, R., Murray, G.J., Treco, D. et al. Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 2000, 97: 365-37.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 365-437
-
-
Schiffmann, R.1
Murray, G.J.2
Treco, D.3
-
30
-
-
0035163539
-
Fabry disease: Preclinical studies demonstrate the effectiveness of alpha-galactosidase a replacement in enzyme-deficient mice
-
Ioannou, Y.A., Zeidner, K.M., Gordon, R.E., Desnick, R.J. Fabry disease: Preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 2001, 68: 14-25.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 14-25
-
-
Ioannou, Y.A.1
Zeidner, K.M.2
Gordon, R.E.3
Desnick, R.J.4
-
31
-
-
0008548181
-
Enzyme therapy in Fabry disease: Differential plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase isozymes
-
Desnick, R.J., Dean K.J., Grabowski, G.A., Bishop, D.F., Sweeley, C.C. Enzyme therapy in Fabry disease: Differential plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase isozymes. Proc Natl Acad Sci USA 1979, 76: 5326.
-
(1979)
Proc Natl Acad Sci USA
, vol.76
, pp. 5326
-
-
Desnick, R.J.1
Dean, K.J.2
Grabowski, G.A.3
Bishop, D.F.4
Sweeley, C.C.5
-
32
-
-
0035097499
-
A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies
-
Eng, C.M., 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 2001, 68: 711-22.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 711-722
-
-
Eng, C.M.1
Banikazemi, M.2
Gordon, R.3
-
33
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease. A randomized controlled trial
-
Schiffmann, R., Kopp, J.B., Austin, H.A. et al. Enzyme replacement therapy in Fabry disease. A randomized controlled trial. JAMA 2001, 285: 2743-9.
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin, H.A.3
-
34
-
-
0037452544
-
Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
-
Desnick, R.J., Brady, R., Barranger, J. et al. Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003, 38: 338-46.
-
(2003)
Ann Intern Med
, vol.38
, pp. 338-346
-
-
Desnick, R.J.1
Brady, R.2
Barranger, J.3
-
35
-
-
84878719907
-
-
note
-
Fabrazyme prescribing information.
-
-
-
|