-
2
-
-
0033585476
-
Carey WF Prevalence of lysosomal storage disorders
-
Meikle PJ, Hopwood JJ, Clague AE, Carey WF Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249-54.
-
(1999)
JAMA
, vol.281
, pp. 249-254
-
-
Meikle, P.J.1
Hopwood, J.J.2
Clague, A.E.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: 769-75.
-
(2001)
J Med Genet
, vol.38
, pp. 769-775
-
-
Macdermot, K.D.1
Holmes, A.2
Miners, A.H.3
-
4
-
-
0035667062
-
Anderson-fabry disease: Clinical manifestations of disease in female heterozygotes
-
Whybra C, Kampmann C, Willers I, et al. Anderson-fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis 2001; 24: 715-24.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 715-724
-
-
Whybra, C.1
Kampmann, C.2
Willers, I.3
-
5
-
-
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
-
Ishii S, Chang HH, Kawasaki K, et al. 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 2007; 406: 285-95.
-
(2007)
Biochem J
, vol.406
, pp. 285-295
-
-
Ishii, S.1
Chang, H.H.2
Kawasaki, K.3
-
6
-
-
0034657297
-
Role of Ser-65 in the activity of alphagalactosidase A: Characterization of a point mutation (S65T) detected in a patient with Fabry disease
-
Ishii S, Suzuki Y, Fan JQ. Role of Ser-65 in the activity of alphagalactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease. Arch Biochem Biophys 2000; 377: 228-33.
-
(2000)
Arch Biochem Biophys
, vol.377
, pp. 228-233
-
-
Ishii, S.1
Suzuki, Y.2
Fan, J.Q.3
-
7
-
-
0027787898
-
Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease
-
Ishii S, Kase R, Sakuraba H, Suzuki Y. Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease. Biochem Biophys Res Commun 1993; 197: 1585-9.
-
(1993)
Biochem Biophys Res Commun
, vol.197
, pp. 1585-1589
-
-
Ishii, S.1
Kase, R.2
Sakuraba, H.3
Suzuki, Y.4
-
8
-
-
32944476769
-
Enzyme replacement for lysosomal diseases
-
Brady RO. Enzyme replacement for lysosomal diseases. Annu Rev Med 2006; 57: 283-96.
-
(2006)
Annu Rev Med
, vol.57
, pp. 283-296
-
-
Brady, R.O.1
-
9
-
-
33847050214
-
Clinical results of enzyme replacement therapy in Fabry disease: A comprehensive review of literature
-
Lidove O, Joly D, Barbey F, et al. Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature. Int J Clin Pract 2007; 61: 293-302.
-
(2007)
Int J Clin Pract
, vol.61
, pp. 293-302
-
-
Lidove, O.1
Joly, D.2
Barbey, F.3
-
10
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease
-
Eng CM, Guffon N, Wilcox WR, et al. 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
-
11
-
-
3142554529
-
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
-
Wilcox WR, Banikazemi M, Guffon N, et al. 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
-
12
-
-
0035949721
-
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: Reversal by enzyme replacement therapy
-
Moore DF, Scott LT, Gladwin MT, et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001; 104: 1506-12.
-
(2001)
Circulation
, vol.104
, pp. 1506-1512
-
-
Moore, D.F.1
Scott, L.T.2
Gladwin, M.T.3
-
13
-
-
59849088219
-
Fabry disease: Cardiac manifestations and therapeutic options
-
Pierre-Louis B, Kumar A, Frishman WH. Fabry disease: cardiac manifestations and therapeutic options. Cardiol Rev 2009; 17: 31-5.
-
(2009)
Cardiol Rev
, vol.17
, pp. 31-35
-
-
Pierre-Louis, B.1
Kumar, A.2
Frishman, W.H.3
-
15
-
-
0017663270
-
Fabry's disease. Carbamazepine therapy in acrodyniform syndrome
-
Lenoir G, Rivron M, Gubler MC, Dufier JL, Tome FS, Guivarch M. Fabry's disease. Carbamazepine therapy in acrodyniform syndrome. Arch Fr Pediatr 1977; 34: 704-16.
-
(1977)
Arch Fr Pediatr
, vol.34
, pp. 704-716
-
-
Lenoir, G.1
Rivron, M.2
Gubler, M.C.3
Dufier, J.L.4
Tome, F.S.5
Guivarch, M.6
-
16
-
-
0036355836
-
Fabry's disease (alpha-galactosidase-A deficiency): Recent therapeutic innovations
-
Germain DP. Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations. J Soc Biol 2002; 196: 183-90.
-
(2002)
J Soc Biol
, vol.196
, pp. 183-190
-
-
Germain, D.P.1
-
17
-
-
0031764478
-
Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: Response to metoclopramide
-
Argoff CE, Barton NW, Brady RO, Ziessman HA. Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide. Nucl Med Commun 1998; 19: 887-91.
-
(1998)
Nucl Med Commun
, vol.19
, pp. 887-891
-
-
Argoff, C.E.1
Barton, N.W.2
Brady, R.O.3
Ziessman, H.A.4
-
19
-
-
33748746594
-
Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement
-
Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006; 8: 539-48.
-
(2006)
Genet Med
, vol.8
, pp. 539-548
-
-
Eng, C.M.1
Germain, D.P.2
Banikazemi, M.3
-
20
-
-
0037061867
-
Clinical practice. Nephropathy in patients with type 2 diabetes
-
Remuzzi G, Schieppati A, Ruggenenti P. Clinical practice. Nephropathy in patients with type 2 diabetes. N Engl J Med 2002; 346: 1145-51.
-
(2002)
N Engl J Med
, vol.346
, pp. 1145-1151
-
-
Remuzzi, G.1
Schieppati, A.2
Ruggenenti, P.3
-
21
-
-
0037472879
-
Multifactorial intervention and cardiovascular disease in patients with type 2 diabetes
-
Gaede P, Vedel P, Larsen N, Jensen GV, Parving HH, Pedersen O. Multifactorial intervention and cardiovascular disease in patients with type 2 diabetes. N Engl J Med 2003; 348: 383-93.
-
(2003)
N Engl J Med
, vol.348
, pp. 383-393
-
-
Gaede, P.1
Vedel, P.2
Larsen, N.3
Jensen, G.V.4
Parving, H.H.5
Pedersen, O.6
-
22
-
-
0037452544
-
Fabry disease, an underrecognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
-
Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an underrecognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003; 138: 338-46.
-
(2003)
Ann Intern Med
, vol.138
, pp. 338-346
-
-
Desnick, R.J.1
Brady, R.2
Barranger, J.3
-
24
-
-
0022006913
-
Progressive cardiac involvement by Fabry's disease despite successful renal allotransplantation
-
Kramer W, Thormann J, Mueller K, Frenzel H. Progressive cardiac involvement by Fabry's disease despite successful renal allotransplantation. Int J Cardiol 1985; 7: 72-5.
-
(1985)
Int J Cardiol
, vol.7
, pp. 72-75
-
-
Kramer, W.1
Thormann, J.2
Mueller, K.3
Frenzel, H.4
-
25
-
-
33645861655
-
Gene therapy for lysosomal storage diseases
-
Sands MS, Davidson BL. Gene therapy for lysosomal storage diseases. Mol Ther 2006; 13: 839-49.
-
(2006)
Mol Ther
, vol.13
, pp. 839-849
-
-
Sands, M.S.1
Davidson, B.L.2
-
27
-
-
0034728914
-
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox T, Lachmann R, Hollak C, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000; 355: 1481-5.
-
(2000)
Lancet
, vol.355
, pp. 1481-1485
-
-
Cox, T.1
Lachmann, R.2
Hollak, C.3
-
28
-
-
7244254360
-
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease
-
Elstein D, Hollak C, Aerts JM, et al. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis 2004; 27: 757-66.
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 757-766
-
-
Elstein, D.1
Hollak, C.2
Aerts, J.M.3
-
29
-
-
43749115379
-
Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding
-
Gelsthorpe ME, Baumann N, Millard E, et al. Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding. J Biol Chem 2008; 283: 8229-36.
-
(2008)
J Biol Chem
, vol.283
, pp. 8229-8236
-
-
Gelsthorpe, M.E.1
Baumann, N.2
Millard, E.3
-
31
-
-
67650410543
-
Biological and chemical approaches to diseases of proteostasis deficiency
-
Powers ET, Morimoto RI, Dillin A, Kelly JW, Balch WE. Biological and chemical approaches to diseases of proteostasis deficiency. Annu Rev Biochem 2009; 78: 959-91.
-
(2009)
Annu Rev Biochem
, vol.78
, pp. 959-991
-
-
Powers, E.T.1
Morimoto, R.I.2
Dillin, A.3
Kelly, J.W.4
Balch, W.E.5
-
32
-
-
40149095757
-
Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis
-
Mu TW, Fowler DM, Kelly JW. Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis. PLoS Biol 2008; 6: e26.
-
(2008)
PLoS Biol
, vol.6
, pp. 26
-
-
Mu, T.W.1
Fowler, D.M.2
Kelly, J.W.3
-
34
-
-
7244253015
-
Pharmacologic rescue of conformationally-defective proteins: Implications for the treatment of human disease
-
Ulloa-Aguirre A, Janovick JA, Brothers SP, Conn PM. Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease. Traffic 2004; 5: 821-37.
-
(2004)
Traffic
, vol.5
, pp. 821-837
-
-
Ulloa-Aguirre, A.1
Janovick, J.A.2
Brothers, S.P.3
Conn, P.M.4
-
35
-
-
0037180511
-
Chemical chaperones increase the cellular activity of N370S beta -glucosidase: A therapeutic strategy for Gaucher disease
-
Sawkar AR, Cheng WC, Beutler E, Wong CH, Balch WE, Kelly JW. Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease. Proc Natl Acad Sci USA 2002; 99: 15428-33.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 15428-15433
-
-
Sawkar, A.R.1
Cheng, W.C.2
Beutler, E.3
Wong, C.H.4
Balch, W.E.5
Kelly, J.W.6
-
36
-
-
27744459735
-
Gaucher diseaseassociated glucocerebrosidases show mutation-dependent chemical chaperoning profiles
-
Sawkar AR, Adamski-Werner SL, et al. Gaucher diseaseassociated glucocerebrosidases show mutation-dependent chemical chaperoning profiles. Chem Biol 2005; 12: 1235-44.
-
(2005)
Chem Biol
, vol.12
, pp. 1235-1244
-
-
Sawkar, A.R.1
Adamski-Werner, S.L.2
-
37
-
-
24644490499
-
Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations
-
Alfonso P, Pampin S, Estrada J, et al. Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations. Blood Cells Mol Dis 2005; 35: 268-76.
-
(2005)
Blood Cells Mol Dis
, vol.35
, pp. 268-276
-
-
Alfonso, P.1
Pampin, S.2
Estrada, J.3
-
38
-
-
34548650256
-
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease
-
Zheng W, Padia J, Urban DJ, et al. Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease. Proc Natl Acad Sci USA 2007; 104: 13192-7.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, pp. 13192-13197
-
-
Zheng, W.1
Padia, J.2
Urban, D.J.3
-
39
-
-
33845186661
-
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II
-
Okumiya T, Kroos MA, Vliet LV, Takeuchi H, Van der Ploeg AT, Reuser AJ. Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II. Mol Genet Metab 2007; 90: 49-57.
-
(2007)
Mol Genet Metab
, vol.90
, pp. 49-57
-
-
Okumiya, T.1
Kroos, M.A.2
Vliet, L.V.3
Takeuchi, H.4
van der Ploeg, A.T.5
Reuser, A.J.6
-
40
-
-
33847220777
-
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease
-
Parenti G, Zuppaldi A, Gabriela Pittis M, et al. Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther 2007; 15: 508-14.
-
(2007)
Mol Ther
, vol.15
, pp. 508-514
-
-
Parenti, G.1
Zuppaldi, A.2
Gabriela Pittis, M.3
-
41
-
-
1842741341
-
Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients
-
Tropak MB, Reid SP, Guiral M, Withers SG, Mahuran D. Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients. J Biol Chem 2004; 279: 13478-87.
-
(2004)
J Biol Chem
, vol.279
, pp. 13478-13487
-
-
Tropak, M.B.1
Reid, S.P.2
Guiral, M.3
Withers, S.G.4
Mahuran, D.5
-
42
-
-
3242800983
-
Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis
-
Matsuda J, Suzuki O, Oshima A, et al. Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci USA 2003; 100: 15912-7.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 15912-15917
-
-
Matsuda, J.1
Suzuki, O.2
Oshima, A.3
-
44
-
-
67349206148
-
The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts
-
Porto C, Cardone M, Fontana F, et al. The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther 2009; 17: 964-71.
-
(2009)
Mol Ther
, vol.17
, pp. 964-971
-
-
Porto, C.1
Cardone, M.2
Fontana, F.3
-
45
-
-
34748866532
-
Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors
-
Fan JQ, Ishii S. Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors. FEBS J 2007; 274: 4962-71.
-
(2007)
FEBS J
, vol.274
, pp. 4962-4971
-
-
Fan, J.Q.1
Ishii, S.2
-
46
-
-
33746789921
-
Quantitative high-throughput screening: A titration-based approach that efficiently identifies biological activities in large chemical libraries
-
Inglese J, Auld DS, Jadhav A, et al. Quantitative high-throughput screening: a titration-based approach that efficiently identifies biological activities in large chemical libraries. Proc Natl Acad Sci USA 2006; 103: 11473-78.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 11473-11478
-
-
Inglese, J.1
Auld, D.S.2
Jadhav, A.3
-
47
-
-
0015908739
-
Galactosyl (alpha 1-4)galactosylceramide: Galactosyl hydrolase activity in normal and Fabry plasma
-
Mapes CA, Sweeley CC. Galactosyl (alpha 1-4)galactosylceramide: galactosyl hydrolase activity in normal and Fabry plasma. Biochem Biophys Res Commun 1973; 53: 1317-24.
-
(1973)
Biochem Biophys Res Commun
, vol.53
, pp. 1317-1324
-
-
Mapes, C.A.1
Sweeley, C.C.2
-
48
-
-
0016439787
-
Glycosidases in human skin fibroblast cultures. Alpha-fucosidase, alpha-galactosidase, alphaglucosidase, beta-mannosidase, and N-acetyl-alphaglucosaminidase
-
Hultberg B, Sjoblad S, Ockerman PA. Glycosidases in human skin fibroblast cultures. Alpha-fucosidase, alpha-galactosidase, alphaglucosidase, beta-mannosidase, and N-acetyl-alphaglucosaminidase. Acta Paediatr Scand 1975; 64: 123-31.
-
(1975)
Acta Paediatr Scand
, vol.64
, pp. 123-131
-
-
Hultberg, B.1
Sjoblad, S.2
Ockerman, P.A.3
-
49
-
-
68349098956
-
Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase
-
Shi ZD, Motabar O, Goldin E, et al. Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase. Anal Bioanal Chem 2009; 394(7): 1903-9.
-
(2009)
Anal Bioanal Chem
, vol.394
, Issue.7
, pp. 1903-1909
-
-
Shi, Z.D.1
Motabar, O.2
Goldin, E.3
-
50
-
-
0018072933
-
A new immunochemical method for the quantitative measurement of specific gene products in man-rodent somatic cell hybrids
-
de Groot PG, Hamers MN, Westerveld A, et al. A new immunochemical method for the quantitative measurement of specific gene products in man-rodent somatic cell hybrids. Hum Genet 1978; 44: 295-304.
-
(1978)
Hum Genet
, vol.44
, pp. 295-304
-
-
de Groot, P.G.1
Hamers, M.N.2
Westerveld, A.3
-
51
-
-
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
-
Yagi F, Eckhardt AE, Goldstein IJ. 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 1990; 280: 61-7.
-
(1990)
Arch Biochem Biophys
, vol.280
, pp. 61-67
-
-
Yagi, F.1
Eckhardt, A.E.2
Goldstein, I.J.3
-
52
-
-
50549214171
-
A study of yeast alpha-galactosidase with naphthyl alpha-D-galactopyranosides as chromogenic substrates
-
Tsou KC, Su HC. A study of yeast alpha-galactosidase with naphthyl alpha-D-galactopyranosides as chromogenic substrates. Anal Biochem 1964; 8, 415-23.
-
(1964)
Anal Biochem
, vol.8
, pp. 415-423
-
-
Tsou, K.C.1
Su, H.C.2
-
53
-
-
33646403198
-
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants
-
Yam GH, Bosshard N, Zuber C, Steinmann B, Roth J. Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. Am J Physiol Cell Physiol 2006; 290: C1076-82.
-
(2006)
Am J Physiol Cell Physiol
, vol.290
, pp. 1076-1082
-
-
Yam, G.H.1
Bosshard, N.2
Zuber, C.3
Steinmann, B.4
Roth, J.5
-
54
-
-
11244280871
-
A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder
-
Yam GH, Zuber C, Roth J. A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder. FASEB J 2005; 19: 12-8.
-
(2005)
FASEB J
, vol.19
, pp. 12-18
-
-
Yam, G.H.1
Zuber, C.2
Roth, J.3
-
55
-
-
0023067608
-
Microscale methylation analysis of glycolipids using capillary gas chromatography-chemical ionization mass fragmentography with selected ion monitoring
-
Levery SB, Hakomori S. Microscale methylation analysis of glycolipids using capillary gas chromatography-chemical ionization mass fragmentography with selected ion monitoring. Methods Enzymol 1987; 138: 13-25.
-
(1987)
Methods Enzymol
, vol.138
, pp. 13-25
-
-
Levery, S.B.1
Hakomori, S.2
-
56
-
-
0025322255
-
Urinary neutral glycosphingolipid analysis of patients with Fabry's disease; rapid isocratic elution from high-performance liquid chromatography as per-o-benzoyl derivatives
-
Oshima M, Asano K, Shibata S, Suzuki Y, Masuzawa M. Urinary neutral glycosphingolipid analysis of patients with Fabry's disease; rapid isocratic elution from high-performance liquid chromatography as per-o-benzoyl derivatives. Biochim Biophys Acta 1990; 1043: 157-60.
-
(1990)
Biochim Biophys Acta
, vol.1043
, pp. 157-160
-
-
Oshima, M.1
Asano, K.2
Shibata, S.3
Suzuki, Y.4
Masuzawa, M.5
-
57
-
-
0033081702
-
Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit
-
Zeidner KM, Desnick RJ, Ioannou YA. Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit. Anal Biochem 1999; 267: 104-13.
-
(1999)
Anal Biochem
, vol.267
, pp. 104-113
-
-
Zeidner, K.M.1
Desnick, R.J.2
Ioannou, Y.A.3
-
58
-
-
20444373723
-
Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard
-
Fauler G, Rechberger GN, Devrnja D, et al. Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard. Rapid Commun Mass Spectrom 2005; 19: 1499-506.
-
(2005)
Rapid Commun Mass Spectrom
, vol.19
, pp. 1499-1506
-
-
Fauler, G.1
Rechberger, G.N.2
Devrnja, D.3
-
59
-
-
0033018496
-
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
-
Fan JQ, Ishii S, Asano N, Suzuki Y. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med 1999; 5: 112-5.
-
(1999)
Nat Med
, vol.5
, pp. 112-115
-
-
Fan, J.Q.1
Ishii, S.2
Asano, N.3
Suzuki, Y.4
-
61
-
-
12644284502
-
Alpha-Galactosidase A deficient mice: A model of Fabry disease
-
Ohshima T, Murray GJ, Swaim WD, et al. alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci USA 1997; 94: 2540-4.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 2540-2544
-
-
Ohshima, T.1
Murray, G.J.2
Swaim, W.D.3
-
62
-
-
7044284796
-
Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: A biochemical animal model for studying active-site specific chaperone therapy for Fabry disease
-
Ishii S, Yoshioka H, Mannen K, Kulkarni AB, Fan JQ. Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease. Biochim Biophys Acta 2004; 1690: 250-7
-
(2004)
Biochim Biophys Acta
, vol.1690
, pp. 250-257
-
-
Ishii, S.1
Yoshioka, H.2
Mannen, K.3
Kulkarni, A.B.4
Fan, J.Q.5
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