-
1
-
-
33846073597
-
-
Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease, 8th edn. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw-Hill; 2001. pp. 3733-3774.
-
Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease, 8th edn. Edited by Scriver CR, Beaudet AL, Sly WS, Valle D. New York: McGraw-Hill; 2001. pp. 3733-3774.
-
-
-
-
2
-
-
12144287518
-
Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
-
Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004;34:236-242.
-
(2004)
Eur J Clin Invest
, vol.34
, pp. 236-242
-
-
Mehta, A.1
Ricci, R.2
Widmer, U.3
-
3
-
-
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
-
4
-
-
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.
-
(2001)
J Med Genet
, vol.38
, pp. 750-760
-
-
MacDermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
5
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet. 2006;79:31-40.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
-
6
-
-
11144355110
-
Results of a nationwide screening for Anderson-Fabry disease among dialysis patients
-
Kotanko P, Kramar R, Devrnja D, et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol. 2004;15:1323-1329.
-
(2004)
J Am Soc Nephrol
, vol.15
, pp. 1323-1329
-
-
Kotanko, P.1
Kramar, R.2
Devrnja, D.3
-
7
-
-
27844440793
-
Prevalence of Fabry disease in patients with cryptogenic stroke: A prospective study
-
Rolfs A, Böttcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005;366:1794-1796.
-
(2005)
Lancet
, vol.366
, pp. 1794-1796
-
-
Rolfs, A.1
Böttcher, T.2
Zschiesche, M.3
-
8
-
-
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. 1995;333:288-293.
-
(1995)
N Engl J Med
, vol.333
, pp. 288-293
-
-
Nakao, S.1
Takenaka, T.2
Maeda, M.3
-
9
-
-
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. 2002;105:1407-1411.
-
(2002)
Circulation
, vol.105
, pp. 1407-1411
-
-
Sachdev, B.1
Takenaka, T.2
Teraguchi, H.3
-
10
-
-
4544344055
-
Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy
-
Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation. 2004;110:1047-1053.
-
(2004)
Circulation
, vol.110
, pp. 1047-1053
-
-
Chimenti, C.1
Pieroni, M.2
Morgante, E.3
-
11
-
-
23844484627
-
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population
-
Dobrovolny R, Dvorakova L, Ledvinova J, et al. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population. J Mol Med. 2005;3:647-654.
-
(2005)
J Mol Med
, vol.3
, pp. 647-654
-
-
Dobrovolny, R.1
Dvorakova, L.2
Ledvinova, J.3
-
13
-
-
0036266203
-
Bicohemical and molecular basis of Fabry disease
-
Pastores GM, Lien Y. Bicohemical and molecular basis of Fabry disease. J Am Soc Nephrol. 2002;13:S130-S133.
-
(2002)
J Am Soc Nephrol
, vol.13
-
-
Pastores, G.M.1
Lien, Y.2
-
14
-
-
0027491109
-
Nature and frequency of mutations in the alpha-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 alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet. 1993;53:1186-1197.
-
(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
-
15
-
-
0036895451
-
Enzyme therapy and enhancement therapies: Lessons from lysosomal disorders
-
Desnick RJ, Schuchman EH. Enzyme therapy and enhancement therapies: lessons from lysosomal disorders. Nature. 2002;3:954-966.
-
(2002)
Nature
, vol.3
, pp. 954-966
-
-
Desnick, R.J.1
Schuchman, E.H.2
-
16
-
-
19244364584
-
Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene
-
Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RPM, et al. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. J Med Genet. 1996;33:682-688.
-
(1996)
J Med Genet
, vol.33
, pp. 682-688
-
-
Redonnet-Vernhet, I.1
Ploos van Amstel, J.K.2
Jansen, R.P.M.3
-
17
-
-
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. 2001;285:2743-2749.
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin III, H.A.3
-
18
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry's disease
-
for the International Collaborative Fabry Disease Study Group
-
Eng CM, Guffon N, Wilcox WR, et al., for the 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
-
19
-
-
10644231988
-
Fabry disease: Overall effects of agalsidase alfa treatment
-
Beck M, Ricci R, Widmer U, et al. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest. 2004;34:838-844.
-
(2004)
Eur J Clin Invest
, vol.34
, pp. 838-844
-
-
Beck, M.1
Ricci, R.2
Widmer, U.3
-
20
-
-
0344443401
-
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease
-
Schiffmann R, Floeter MK, Dambrosia JM, et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve. 2003;28:703-710.
-
(2003)
Muscle Nerve
, vol.28
, pp. 703-710
-
-
Schiffmann, R.1
Floeter, M.K.2
Dambrosia, J.M.3
-
21
-
-
18244397953
-
Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement
-
Moore DF, Altarescu G, Ling GS, et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke. 2002;33:525-531.
-
(2002)
Stroke
, vol.33
, pp. 525-531
-
-
Moore, D.F.1
Altarescu, G.2
Ling, G.S.3
-
22
-
-
0141765881
-
Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: A prospective strain rate imaging study
-
Weidemann F, Breunig F, Beer M, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation. 2003;108:1299-1301.
-
(2003)
Circulation
, vol.108
, pp. 1299-1301
-
-
Weidemann, F.1
Breunig, F.2
Beer, M.3
-
23
-
-
4344713083
-
Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease
-
Spinelli L, Pisani A, Sabbatini M, et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin Genet. 2004;66:158-165.
-
(2004)
Clin Genet
, vol.66
, pp. 158-165
-
-
Spinelli, L.1
Pisani, A.2
Sabbatini, M.3
-
24
-
-
2442648874
-
Improvement of cardiac hypertrophy and ventricular function in a man with Fabry disease by treatment with recombinant alpha-galactosidase A
-
Komamura K, Higashi M, Yamada N. Improvement of cardiac hypertrophy and ventricular function in a man with Fabry disease by treatment with recombinant alpha-galactosidase A. Heart. 2004;90:617.
-
(2004)
Heart
, vol.90
, pp. 617
-
-
Komamura, K.1
Higashi, M.2
Yamada, N.3
|