-
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 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
-
-
0037452544
-
Fabry disease, an under-recognizedmultisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
-
Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, et al. Fabry disease, an under-recognizedmultisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338-346
-
(2003)
Ann Intern Med
, vol.138
, pp. 338-346
-
-
Desnick, R.J.1
Brady, R.2
Barranger, J.3
Collins, A.J.4
Germain, D.P.5
Goldman, M.6
-
3
-
-
20944449722
-
Osteopenia and osteoporosis: Previously unrecognized manifestations of Fabry disease
-
Germain DP, Benistan K, Boutouyrie P, Mutschler C. Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease. Clin Genet 2005;68:93-95
-
(2005)
Clin Genet
, vol.68
, pp. 93-95
-
-
Germain, D.P.1
Benistan, K.2
Boutouyrie, P.3
Mutschler, C.4
-
4
-
-
37349083863
-
Osteopenia: A common aspect of Fabry disease. Predictors of bone mineral density
-
Mersebach H, Johansson JO, Rasmussen AK, Bengtsson BA, Rosenberg K, Hasholt L, et al. Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density. Genet Med 2007;9:812-818
-
(2007)
Genet Med
, vol.9
, pp. 812-818
-
-
Mersebach, H.1
Johansson, J.O.2
Rasmussen, A.K.3
Bengtsson, B.A.4
Rosenberg, K.5
Hasholt, L.6
-
5
-
-
23044513293
-
Gastrointestinal manifestations of Fabry disease: Clinical response to enzyme replacement therapy
-
Banikazemi M, Ullman T, Desnick RJ. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab 2005;85:255-259
-
(2005)
Mol Genet Metab
, vol.85
, pp. 255-259
-
-
Banikazemi, M.1
Ullman, T.2
Desnick, R.J.3
-
6
-
-
41649095977
-
Clinical practice. Osteoporosis in men
-
Ebeling PR. Clinical practice. Osteoporosis in men. N Engl J Med 2008;358:1474-1482
-
(2008)
N Engl J Med
, vol.358
, pp. 1474-1482
-
-
Ebeling, P.R.1
-
7
-
-
0037076461
-
Effect of antiepileptic drugs on bone density in ambulatory patients
-
Farhat G, Yamout B, Mikati MA, Demirjian S, Sawaya R, El-Hajj Fuleihan G. Effect of antiepileptic drugs on bone density in ambulatory patients. Neurology 2002;58:1348-1353
-
(2002)
Neurology
, vol.58
, pp. 1348-1353
-
-
Farhat, G.1
Yamout, B.2
Mikati, M.A.3
Demirjian, S.4
Sawaya, R.5
El-Hajj Fuleihan, G.6
-
9
-
-
0036065026
-
Avascular necrosis of the femoral head in a patient with Fabry's disease: Identification of ceramide trihexoside in the bone by delayed-extraction matrix-assisted laser desorption ionizationtime- of-flight mass spectrometry
-
Horiuchi H, Saito N, Kobayashi S, Ota H, Taketomi T, Takaoka K. Avascular necrosis of the femoral head in a patient with Fabry's disease: identification of ceramide trihexoside in the bone by delayed-extraction matrix-assisted laser desorption ionizationtime- of-flight mass spectrometry. Arthritis Rheum 2002;46: 1922-1925
-
(2002)
Arthritis Rheum
, vol.46
, pp. 1922-1925
-
-
Horiuchi, H.1
Saito, N.2
Kobayashi, S.3
Ota, H.4
Taketomi, T.5
Takaoka, K.6
-
10
-
-
0019482831
-
Pathogenesis of the neurotrophic joint: Neurotraumatic vs. neurovascular
-
Brower AC, Allman RM. Pathogenesis of the neurotrophic joint: neurotraumatic vs. neurovascular. Radiology 1981;139: 349-354
-
(1981)
Radiology
, vol.139
, pp. 349-354
-
-
Brower, A.C.1
Allman, R.M.2
-
11
-
-
0023904549
-
Nervous system involvement in Fabry's disease: Clinicopathological and biochemical correlation
-
Kaye EM,Kolodny EH, Logigian EL, Ullman MD. Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. Ann Neurol 1988;23:505-509
-
(1988)
Ann Neurol
, vol.23
, pp. 505-509
-
-
Kaye, E.M.1
Kolodny, E.H.2
Logigian, E.L.3
Ullman, M.D.4
-
12
-
-
0035811624
-
Safety and efficacy of recombinant human alphagalactosidase A - Replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and efficacy of recombinant human alphagalactosidase 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.M.1
Guffon, N.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
Waldek, S.6
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