-
1
-
-
0000889058
-
Alpha-galactosidase a deficiency: Fabry disease
-
In: Scriver CR, Baudet AL, Sly WS, Valle D (eds), 8 McGraw-Hill New York
-
Desnick R, Ioannou Y, Eng C (2001) Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Baudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, vol 1, 8th edn. McGraw-Hill, New York, pp 3733-3774
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.1
, pp. 3733-3774
-
-
Desnick, R.1
Ioannou, Y.2
Eng, C.3
-
2
-
-
34548145120
-
Mutant alpha-galactosidase a enzymes identified in fabry disease patients with residual enzyme activity: Biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin
-
S Ishii 2007 Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin Biochem J 406 2 285 295
-
(2007)
Biochem J
, vol.406
, Issue.2
, pp. 285-295
-
-
Ishii, S.1
-
3
-
-
0034657297
-
Role of Ser-65 in the activity of alpha-galactosidase a: Characterization of a point mutation (S65T) detected in a patient with Fabry disease
-
S Ishii Y Suzuki JQ Fan 2000 Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease Arch Biochem Biophys 377 2 228 233
-
(2000)
Arch Biochem Biophys
, vol.377
, Issue.2
, pp. 228-233
-
-
Ishii, S.1
Suzuki, Y.2
Fan, J.Q.3
-
4
-
-
0027787898
-
Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease
-
S Ishii 1993 Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease Biochem Biophys Res Commun 197 3 1585 1589
-
(1993)
Biochem Biophys Res Commun
, vol.197
, Issue.3
, pp. 1585-1589
-
-
Ishii, S.1
-
5
-
-
32944476769
-
Enzyme replacement for lysosomal diseases
-
RO Brady 2006 Enzyme replacement for lysosomal diseases Annu Rev Med 57 283 296
-
(2006)
Annu Rev Med
, vol.57
, pp. 283-296
-
-
Brady, R.O.1
-
6
-
-
33847050214
-
Clinical results of enzyme replacement therapy in fabry disease: A comprehensive review of literature
-
O Lidove 2007 Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature Int J Clin Pract 61 2 293 302
-
(2007)
Int J Clin Pract
, vol.61
, Issue.2
, pp. 293-302
-
-
Lidove, O.1
-
7
-
-
3142554529
-
Long-term safety and efficacy of enzyme replacement therapy for fabry disease
-
WR Wilcox 2004 Long-term safety and efficacy of enzyme replacement therapy for Fabry disease Am J Hum Genet 75 1 65 74
-
(2004)
Am J Hum Genet
, vol.75
, Issue.1
, pp. 65-74
-
-
Wilcox, W.R.1
-
8
-
-
0035949721
-
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in fabry disease: Reversal by enzyme replacement therapy
-
DF Moore 2001 Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy Circulation 104 13 1506 1512
-
(2001)
Circulation
, vol.104
, Issue.13
, pp. 1506-1512
-
-
Moore, D.F.1
-
9
-
-
16644366865
-
Pharmacological chaperone action on G-protein-coupled receptors
-
V Bernier DG Bichet M Bouvier 2004 Pharmacological chaperone action on G-protein-coupled receptors Curr Opin Pharmacol 4 5 528 533
-
(2004)
Curr Opin Pharmacol
, vol.4
, Issue.5
, pp. 528-533
-
-
Bernier, V.1
Bichet, D.G.2
Bouvier, M.3
-
10
-
-
7244253015
-
Pharmacologic rescue of conformationally-defective proteins: Implications for the treatment of human disease
-
A Ulloa-Aguirre 2004 Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease Traffic 5 11 821 837
-
(2004)
Traffic
, vol.5
, Issue.11
, pp. 821-837
-
-
Ulloa-Aguirre, A.1
-
11
-
-
34748866532
-
Active-site-specific chaperone therapy for fabry disease. Yin and yang of enzyme inhibitors
-
JQ Fan S Ishii 2007 Active-site-specific chaperone therapy for Fabry disease. Yin and yang of enzyme inhibitors Febs J 274 19 4962 4971
-
(2007)
Febs J
, vol.274
, Issue.19
, pp. 4962-4971
-
-
Fan, J.Q.1
Ishii, S.2
-
12
-
-
34249659487
-
Screening for pharmacological chaperones in fabry disease
-
SH Shin 2007 Screening for pharmacological chaperones in Fabry disease Biochem Biophys Res Commun 359 1 168 173
-
(2007)
Biochem Biophys Res Commun
, vol.359
, Issue.1
, pp. 168-173
-
-
Shin, S.H.1
-
13
-
-
0016439787
-
Glycosidases in human skin fibroblast cultures. Alpha-fucosidase, alpha-galactosidase, alpha-glucosidase, beta-mannosidase, and N-acetyl-alpha-glucosaminidase
-
B Hultberg S Sjoblad PA Ockerman 1975 Glycosidases in human skin fibroblast cultures. Alpha-fucosidase, alpha-galactosidase, alpha-glucosidase, beta-mannosidase, and N-acetyl-alpha-glucosaminidase Acta Paediatr Scand 64 1 123 131
-
(1975)
Acta Paediatr Scand
, vol.64
, Issue.1
, pp. 123-131
-
-
Hultberg, B.1
Sjoblad, S.2
Ockerman, P.A.3
-
14
-
-
0015908739
-
Galactosyl (alpha 1-4) galactosylceramide: galactosyl hydrolase activity in normal and fabry plasma
-
CA Mapes CC Sweeley 1973 Galactosyl (alpha 1-4) galactosylceramide: galactosyl hydrolase activity in normal and Fabry plasma Biochem Biophys Res Commun 53 4 1317 1324
-
(1973)
Biochem Biophys Res Commun
, vol.53
, Issue.4
, pp. 1317-1324
-
-
Mapes, C.A.1
Sweeley, C.C.2
-
15
-
-
0018072933
-
A new immunochemical method for the quantitative measurement of specific gene products in man-rodent somatic cell hybrids
-
PG de Groot 1978 A new immunochemical method for the quantitative measurement of specific gene products in man-rodent somatic cell hybrids Hum Genet 44 3 295 304
-
(1978)
Hum Genet
, vol.44
, Issue.3
, pp. 295-304
-
-
De Groot, P.G.1
-
16
-
-
0025352401
-
Glycosidases of Ehrlich ascites tumor cells and ascitic fluid-purification and substrate specificity of alpha-N-acetylgalactosaminidase and alpha-galactosidase: comparison with coffee bean alpha-galactosidase
-
F Yagi AE Eckhardt IJ Goldstein 1990 Glycosidases of Ehrlich ascites tumor cells and ascitic fluid-purification and substrate specificity of alpha-N-acetylgalactosaminidase and alpha-galactosidase: comparison with coffee bean alpha-galactosidase Arch Biochem Biophys 280 1 61 67
-
(1990)
Arch Biochem Biophys
, vol.280
, Issue.1
, pp. 61-67
-
-
Yagi, F.1
Eckhardt, A.E.2
Goldstein, I.J.3
-
17
-
-
50549214171
-
A study of yeast alpha-galactosidase with naphthyl alpha-d- galactopyranosides as chromogenic substrates
-
KC Tsou HC Su 1964 A study of yeast alpha-galactosidase with naphthyl alpha-d-galactopyranosides as chromogenic substrates Anal Biochem 8 415 423
-
(1964)
Anal Biochem
, vol.8
, pp. 415-423
-
-
Tsou, K.C.1
Su, H.C.2
-
18
-
-
43049109870
-
Fluorescence spectroscopic profiling of compound libraries
-
A Simeonov 2008 Fluorescence spectroscopic profiling of compound libraries J Med Chem 51 8 2363 2371
-
(2008)
J Med Chem
, vol.51
, Issue.8
, pp. 2363-2371
-
-
Simeonov, A.1
|