-
1
-
-
0000889058
-
Alpha-galactosidase A deficiency: Fabry disease
-
In. edn, eds. Scriver, C.R. Beaudet, A.L. Sly, W.S. Valle, D. New York. McGraw-Hill
-
Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In : The Metabolic and Molecular Basis of Inherited Disease, 8th edn, eds Scriver CR, Beaudet AL, Sly WS, Valle D. New York : McGraw-Hill, 2001 3733 3774.
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease, 8th
, pp. 3733-3774
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
2
-
-
0034766525
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males
-
MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001 38 : 750 760. (Pubitemid 33032930)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.11
, pp. 750-760
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
3
-
-
0034754467
-
Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 60 obligate carrier females [1]
-
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. (Pubitemid 33032933)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.11
, pp. 769-775
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
4
-
-
38049036770
-
Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
-
Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP Fabry Registry. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 2008 93 : 112 128.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 112-128
-
-
Wilcox, W.R.1
Oliveira, J.P.2
Hopkin, R.J.3
Ortiz, A.4
Banikazemi, M.5
Feldt-Rasmussen, U.6
Sims, K.7
Waldek, S.8
Pastores, G.M.9
Lee, P.10
Eng, C.M.11
Marodi, L.12
Stanford, K.E.13
Breunig, F.14
Wanner, C.15
Warnock, D.G.16
Lemay, R.M.17
Germain, Registry.18
-
5
-
-
44449134068
-
The pulvinar sign: Frequency and clinical correlations in Fabry disease
-
Burlina AP, Manara R, Caillaud C, Laissy JP, Severino M, Klein I, Burlina A, Lidove O. The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol 2008 255 : 738 744.
-
(2008)
J Neurol
, vol.255
, pp. 738-744
-
-
Burlina, A.P.1
Manara, R.2
Caillaud, C.3
Laissy, J.P.4
Severino, M.5
Klein, I.6
Burlina, A.7
Lidove, O.8
-
6
-
-
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 5.
-
(2005)
Clin Genet
, vol.68
, pp. 93-5
-
-
Germain, D.P.1
Benistan, K.2
Boutouyrie, P.3
Mutschler, C.4
-
7
-
-
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, Sørensen SA, Sørensen SS, Feldt-Rasmussen U. 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
Sørensen, S.A.7
Sørensen, S.S.8
Feldt-Rasmussen, U.9
-
8
-
-
44449108760
-
Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme
-
Bodensteiner D, Scott CR, Sims KB, Shepherd GM, Cintron RD, Germain DP. Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme. Genet Med 2008 10 : 353 358.
-
(2008)
Genet Med
, vol.10
, pp. 353-358
-
-
Bodensteiner, D.1
Scott, C.R.2
Sims, K.B.3
Shepherd, G.M.4
Cintron, R.D.5
Germain, D.P.6
-
9
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin HA 3rd., Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001 285 : 2743 2749.
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin III, H.A.3
Sabnis, S.4
Moore, D.F.5
Weibel, T.6
Balow, J.E.7
Brady, R.O.8
-
10
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A - Replacement therapy in Fabry's disease
-
Desnick Collaborative Fabry Disease Study Group
-
Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-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.M.1
Guffon, N.2
Wilcox, W.R.3
Germain, D.P.4
Lee, P.5
Waldek, S.6
Caplan, L.7
Linthorst, G.E.8
-
11
-
-
31544456336
-
Long-term therapy with agalsidase alfa for Fabry disease: Safety and effects on renal function in a home infusion setting
-
Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 2006 21 : 345 354.
-
(2006)
Nephrol Dial Transplant
, vol.21
, pp. 345-354
-
-
Schiffmann, R.1
Ries, M.2
Timmons, M.3
Flaherty, J.T.4
Brady, R.O.5
-
12
-
-
3142554529
-
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
-
Germain Fabry Disease Study Group
-
Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004 75 : 65 74.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 65-74
-
-
Wilcox, W.R.1
Banikazemi, M.2
Guffon, N.3
Waldek, S.4
Lee, P.5
Linthorst, G.E.6
Desnick, R.J.7
-
13
-
-
33846908304
-
Agalsidase-beta therapy for advanced Fabry disease: A randomized trial
-
Desnick Disease Clinical Trial Study Group
-
Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ Fabry Disease Clinical Trial Study Group. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007 146 : 77 86.
-
(2007)
Ann Intern Med
, vol.146
, pp. 77-86
-
-
Banikazemi, M.1
Bultas, J.2
Waldek, S.3
Wilcox, W.R.4
Whitley, C.B.5
McDonald, M.6
Finkel, R.7
Packman, S.8
Bichet, D.G.9
Warnock, D.G.10
-
14
-
-
34248190164
-
Sustained, long term stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
-
Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N. Sustained, long term stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007 18 : 1547 1557.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1547-1557
-
-
Germain, D.P.1
Waldek, S.2
Banikazemi, M.3
Bushinsky, D.A.4
Charrow, J.5
Desnick, R.J.6
Lee, P.7
Loew, T.8
Vedder, A.C.9
Abichandani, R.10
Wilcox, W.R.11
Guffon, N.12
-
15
-
-
4644316602
-
Enzyme therapy for Fabry disease: Neutralizing antibodies toward agalsidase alpha and beta
-
Linthorst GE, Hollak CE, Donker-Koopman WE, Strijland A, Aerts JM. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 2004 66 : 1589 1595.
-
(2004)
Kidney Int
, vol.66
, pp. 1589-1595
-
-
Linthorst, G.E.1
Hollak, C.E.2
Donker-Koopman, W.E.3
Strijland, A.4
Aerts, J.M.5
-
16
-
-
34848819423
-
Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy
-
Ohashi T, Sakuma M, Kitagawa T, Suzuki K, Ishige N, Eto Y. Influence of antibody formation on reduction of globotriaosylceramide (GL-3) in urine from Fabry patients during agalsidase beta therapy. Mol Genet Metab 2007 92 : 271 273.
-
(2007)
Mol Genet Metab
, vol.92
, pp. 271-273
-
-
Ohashi, T.1
Sakuma, M.2
Kitagawa, T.3
Suzuki, K.4
Ishige, N.5
Eto, Y.6
-
17
-
-
44949248124
-
Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3
-
Vedder AC, Breunig F, Donker-Koopman WE, Mills K, Young E, Winchester B, Ten Berge IJ, Groener JE, Aerts JM, Wanner C, Hollak CE. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab 2008 94 : 319 325.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 319-325
-
-
Vedder, A.C.1
Breunig, F.2
Donker-Koopman, W.E.3
Mills, K.4
Young, E.5
Winchester, B.6
Ten Berge, I.J.7
Groener, J.E.8
Aerts, J.M.9
Wanner, C.10
Hollak, C.E.11
-
18
-
-
33750090709
-
The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: A review of the literature
-
Bekri S, Lidove O, Jaussaud R, Knebelmann B, Barbey F. The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature. Cardiovasc Hematol Agents Med Chem 2006 4 : 289 297.
-
(2006)
Cardiovasc Hematol Agents Med Chem
, vol.4
, pp. 289-297
-
-
Bekri, S.1
Lidove, O.2
Jaussaud, R.3
Knebelmann, B.4
Barbey, F.5
-
19
-
-
42549131987
-
Fabry disease and treatment with agalsidase alpha: Unsuspected cardiac arrhythmia in two heterozygous women: In reference to pharmacovigilance
-
Mougenot P, Lidove O, Caillaud C, Arnaud P, Papo T. Fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women: in reference to pharmacovigilance. Eur J Clin Pharmacol 2008 64 : 635 639.
-
(2008)
Eur J Clin Pharmacol
, vol.64
, pp. 635-639
-
-
Mougenot, P.1
Lidove, O.2
Caillaud, C.3
Arnaud, P.4
Papo, T.5
-
20
-
-
7044264831
-
Immunoquantification of alpha-galactosidase: Evaluation for the diagnosis of Fabry disease
-
Fuller M, Lovejoy M, Brooks DA, Harkin ML, Hopwood JJ, Meikle PJ. Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease. Clin Chem 2004 50 : 1979 1985.
-
(2004)
Clin Chem
, vol.50
, pp. 1979-1985
-
-
Fuller, M.1
Lovejoy, M.2
Brooks, D.A.3
Harkin, M.L.4
Hopwood, J.J.5
Meikle, P.J.6
-
21
-
-
0024261714
-
Anaphylaxis to muscle relaxants: Cross-sensitivity studied by radioimmunoassays compared to intradermal tests in 34 cases
-
Moneret-Vautrin DA, Guéant JL, Kamel L, Laxenaire MC, el Kholty S, Nicolas JP. Anaphylaxis to muscle relaxants: cross-sensitivity studied by radioimmunoassays compared to intradermal tests in 34 cases. J Allergy Clin Immunol 1988 82 : 745 752.
-
(1988)
J Allergy Clin Immunol
, vol.82
, pp. 745-752
-
-
Moneret-Vautrin, D.A.1
Guéant, J.L.2
Kamel, L.3
Laxenaire, M.C.4
El Kholty, S.5
Nicolas, J.P.6
-
22
-
-
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
-
23
-
-
1642433207
-
Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis i
-
Kakkis E, Lester T, Yang R, Tanaka C, Anand V, Lemontt J, Peinovich M, Passage M. Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I. Proc Natl Acad Sci USA 2004 101 : 829 834.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 829-834
-
-
Kakkis, E.1
Lester, T.2
Yang, R.3
Tanaka, C.4
Anand, V.5
Lemontt, J.6
Peinovich, M.7
Passage, M.8
|