-
1
-
-
0000889058
-
Alpha-Galactosidase A deficiency: Fabry disease
-
edn 8, Eds Scriver C et al, New York: McGraw-Hill
-
Desnick R et al. (2001) Alpha-Galactosidase A deficiency: Fabry disease. In The Metabolic Bases of Inherited Disease, edn 8, 3733-3774 (Eds Scriver C et al.) New York: McGraw-Hill
-
(2001)
The Metabolic Bases of Inherited Disease
, pp. 3733-3774
-
-
Desnick, R.1
-
2
-
-
33947687663
-
Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
-
Eng CM et al. (2007) Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 30: 184-192
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 184-192
-
-
Eng, C.M.1
-
3
-
-
12144287518
-
Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
-
Mehta A et al. (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34: 236-242
-
(2004)
Eur J Clin Invest
, vol.34
, pp. 236-242
-
-
Mehta, A.1
-
4
-
-
33846265851
-
Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life
-
Wang RY et al. (2007) Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 9: 34-45
-
(2007)
Genet Med
, vol.9
, pp. 34-45
-
-
Wang, R.Y.1
-
5
-
-
38049036770
-
Females with X-linked Fabry disease frequently have significant organ involvement
-
Wilcox WR et al. (2008) Females with X-linked Fabry disease frequently have significant organ involvement. Mol Genet Metab 93: 112-128
-
(2008)
Mol Genet Metab
, vol.93
, pp. 112-128
-
-
Wilcox, W.R.1
-
6
-
-
0036122659
-
Natural history of Fabry renal disease: Influence of alpha-galactosidase A activity and genetic mutations on clinical course
-
Branton MH et al. (2002) Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81: 122-138
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 122-138
-
-
Branton, M.H.1
-
7
-
-
0035097499
-
A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies
-
Eng CM et al. (2001) A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68: 711-722
-
(2001)
Am J Hum Genet
, vol.68
, pp. 711-722
-
-
Eng, C.M.1
-
8
-
-
3142554529
-
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease
-
Wilcox WR et al. (2004) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75: 65-74
-
(2004)
Am J Hum Genet
, vol.75
, pp. 65-74
-
-
Wilcox, W.R.1
-
9
-
-
33846908304
-
Agalsidase-beta therapy for advanced Fabry disease: A randomized trial
-
Banikazemi M et al. (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146: 77-86
-
(2007)
Ann Intern Med
, vol.146
, pp. 77-86
-
-
Banikazemi, M.1
-
10
-
-
34248190164
-
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease
-
Germain D et al. (2007) Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 18: 1547-1557
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1547-1557
-
-
Germain, D.1
-
11
-
-
3142737171
-
Enzyme replacement therapy for Fabry disease: Lessons from two alpha-galactosidase A orphan products and one FDA approval
-
Desnick RJ (2004) Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval. Expert Opin Biol Ther 4: 1167-1176
-
(2004)
Expert Opin Biol Ther
, vol.4
, pp. 1167-1176
-
-
Desnick, R.J.1
-
12
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R et al. (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285: 2743-2749
-
(2001)
JAMA
, vol.285
, pp. 2743-2749
-
-
Schiffmann, R.1
-
13
-
-
31544456336
-
Long-term therapy with agalsidase alfa for Fabry disease: Safety and effects on renal function in a home infusion setting
-
Schiffmann R et al. (2006) Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21: 345-354
-
(2006)
Nephrol Dial Transplant
, vol.21
, pp. 345-354
-
-
Schiffmann, R.1
-
14
-
-
34248138939
-
Weekly enzyme replacement therapy may slow decline of renal function in Fabry patients who are on long-term biweekly dosing
-
Schiffmann R et al. (2007) Weekly enzyme replacement therapy may slow decline of renal function in Fabry patients who are on long-term biweekly dosing. J Am Soc Nephrol 18: 1576-1583
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1576-1583
-
-
Schiffmann, R.1
-
15
-
-
44449143398
-
Nephropathy in males and females with Fabry disease: Cross-sectional description of patients before treatment with enzyme replacement therapy
-
doi:10.1093/ndt/gfm848
-
Ortiz A et al. (2008) Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant [doi:10.1093/ndt/gfm848]
-
(2008)
Nephrol Dial Transplant
-
-
Ortiz, A.1
-
16
-
-
0015216216
-
Fabry's disease: Antenatal detection
-
Brady RO et al. (1971) Fabry's disease: antenatal detection. Science 172: 174-175
-
(1971)
Science
, vol.172
, pp. 174-175
-
-
Brady, R.O.1
-
17
-
-
33645660994
-
Manifestations of Fabry disease in placental tissue
-
Vedder AC et al. (2006) Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis 29: 106-111
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 106-111
-
-
Vedder, A.C.1
-
18
-
-
4344633906
-
Parapelvic kidney cysts: A distinguishing feature with high prevalence in Fabry disease
-
Ries M et al. (2004) Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease. Kidney Int 66: 978-982
-
(2004)
Kidney Int
, vol.66
, pp. 978-982
-
-
Ries, M.1
-
19
-
-
0242487692
-
The early clinical phenotype of Fabry disease: A study on 35 European children and adolescents
-
Ries M et al. (2003) The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 162: 767-772
-
(2003)
Eur J Pediatr
, vol.162
, pp. 767-772
-
-
Ries, M.1
-
20
-
-
20344382763
-
Pediatric Fabry disease
-
Ries M et al. (2005) Pediatric Fabry disease. Pediatrics 115: e344-e355
-
(2005)
Pediatrics
, vol.115
-
-
Ries, M.1
-
21
-
-
0017872842
-
Early renal changes in hemizygous and heterozygous patients with Fabry's disease
-
Gubler MC et al. (1978) Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int 13: 223-235
-
(1978)
Kidney Int
, vol.13
, pp. 223-235
-
-
Gubler, M.C.1
-
22
-
-
0035157764
-
Natural history of Fabry disease in affected males and obligate carrier females
-
MacDermot KD et al. (2001) Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis 24 (Suppl 2): 13-14
-
(2001)
J Inherit Metab Dis
, vol.24
, Issue.SUPPL. 2
, pp. 13-14
-
-
MacDermot, K.D.1
-
23
-
-
33645781485
-
Natural history of Fabry disease in females in the Fabry Outcome Survey
-
Deegan PB et al. (2006) Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 43: 347-352
-
(2006)
J Med Genet
, vol.43
, pp. 347-352
-
-
Deegan, P.B.1
-
24
-
-
12644253826
-
Report on management of renal failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry
-
Tsakiris D et al. (1996) Report on management of renal failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrol Dial Transplant 11 (Suppl 7): 4-20
-
(1996)
Nephrol Dial Transplant
, vol.11
, Issue.SUPPL. 7
, pp. 4-20
-
-
Tsakiris, D.1
-
25
-
-
0037452544
-
Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
-
Desnick RJ et al. (2003) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138: 338-346
-
(2003)
Ann Intern Med
, vol.138
, pp. 338-346
-
-
Desnick, R.J.1
-
26
-
-
44449143279
-
-
Hughes DA et al. (online 1 August 2005) Guidelines for the diagnosis and management of Anderson-Fabry Disease [http://www.dh.gov. uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/ DH_4118404] (accessed 23 October 2007)
-
Hughes DA et al. (online 1 August 2005) Guidelines for the diagnosis and management of Anderson-Fabry Disease [http://www.dh.gov. uk/en/Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/ DH_4118404] (accessed 23 October 2007)
-
-
-
-
27
-
-
44449154127
-
-
Clarke LA et al. (online November 2005) Fabry Disease: recommendations for diagnosis, management, and enzyme replacement therapy in Canada [http://www.garrod.ca/data/attachments/CanadianFabryGuidelinesNov05.pdf] (accessed 23 October 2007)
-
Clarke LA et al. (online November 2005) Fabry Disease: recommendations for diagnosis, management, and enzyme replacement therapy in Canada [http://www.garrod.ca/data/attachments/CanadianFabryGuidelinesNov05.pdf] (accessed 23 October 2007)
-
-
-
-
28
-
-
33748746594
-
Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement
-
Eng CM et al. (2006) Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 8: 539-548
-
(2006)
Genet Med
, vol.8
, pp. 539-548
-
-
Eng, C.M.1
-
29
-
-
44449173868
-
-
Fabry Registry (online 2007) Patient Monitoring [https://www.lsdregistry. net/fabryregistry/hcp/partic/freg_hc_p_monitor.asp] (accessed 23 October 2007)
-
Fabry Registry (online 2007) Patient Monitoring [https://www.lsdregistry. net/fabryregistry/hcp/partic/freg_hc_p_monitor.asp] (accessed 23 October 2007)
-
-
-
-
30
-
-
33744958852
-
Assessing kidney function-measured and estimated glomerular filtration rate
-
Stevens LA et al. (2006) Assessing kidney function-measured and estimated glomerular filtration rate. N Engl J Med 354: 2473-2483
-
(2006)
N Engl J Med
, vol.354
, pp. 2473-2483
-
-
Stevens, L.A.1
-
31
-
-
0036176161
-
K/DOQI clinical practice guidelines for chronic kidney disease: Evaluation, classification, and stratification
-
National Kidney Foundation
-
National Kidney Foundation (2002) K/DOQI clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification. Am J Kidney Dis 39 (Suppl 1): S1-S266
-
(2002)
Am J Kidney Dis
, vol.39
, Issue.SUPPL. 1
-
-
-
32
-
-
16844386788
-
Measurement of renal function in patients with Fabry disease
-
Kleinert J et al. (2005) Measurement of renal function in patients with Fabry disease. Acta Paediatr Suppl 94: 19-23
-
(2005)
Acta Paediatr Suppl
, vol.94
, pp. 19-23
-
-
Kleinert, J.1
-
33
-
-
0036263495
-
Renal pathology in Fabry disease
-
Alroy J et al. (2002) Renal pathology in Fabry disease. J Am Soc Nephrol 13 (Suppl 2): S134-S138
-
(2002)
J Am Soc Nephrol
, vol.13
, Issue.SUPPL. 2
-
-
Alroy, J.1
-
34
-
-
18744415726
-
Chloroquine-induced lipidosis mimicking Fabry disease
-
Albay D et al. (2005) Chloroquine-induced lipidosis mimicking Fabry disease. Mod Pathol 18: 733-738
-
(2005)
Mod Pathol
, vol.18
, pp. 733-738
-
-
Albay, D.1
-
35
-
-
33748881819
-
Fabry disease: A morphologic study of 11 cases
-
Fischer EG et al. (2006) Fabry disease: a morphologic study of 11 cases. Mod Pathol 19: 1295-1301
-
(2006)
Mod Pathol
, vol.19
, pp. 1295-1301
-
-
Fischer, E.G.1
-
36
-
-
2442680120
-
Proteinuria, a target for renoprotection in patients with type 2 diabetic nephropathy: Lessons from RENAAL
-
de Zeeuw D et al. (2004) Proteinuria, a target for renoprotection in patients with type 2 diabetic nephropathy: lessons from RENAAL. Kidney Int 65: 2309-2320
-
(2004)
Kidney Int
, vol.65
, pp. 2309-2320
-
-
de Zeeuw, D.1
-
37
-
-
34249882718
-
Progression risk, urinary protein excretion, and treatment effects of Angiotensin-converting enzyme inhibitors in nondiabetic kidney disease
-
Kent DM et al. (2007) Progression risk, urinary protein excretion, and treatment effects of Angiotensin-converting enzyme inhibitors in nondiabetic kidney disease. J Am Soc Nephrol 18: 1959-1965
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1959-1965
-
-
Kent, D.M.1
-
38
-
-
34250859407
-
Proteinuria as a therapeutic target in patients with chronic kidney disease
-
Palmer BF (2007) Proteinuria as a therapeutic target in patients with chronic kidney disease. Am J Nephrol 27: 287-293
-
(2007)
Am J Nephrol
, vol.27
, pp. 287-293
-
-
Palmer, B.F.1
-
39
-
-
0036436320
-
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy
-
Thurberg BL et al. (2002) Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62: 1933-1946
-
(2002)
Kidney Int
, vol.62
, pp. 1933-1946
-
-
Thurberg, B.L.1
-
40
-
-
0035811624
-
Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease
-
Eng CM et al. (2001) Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 345: 9-16
-
(2001)
N Engl J Med
, vol.345
, pp. 9-16
-
-
Eng, C.M.1
-
41
-
-
33747116927
-
Enzyme replacement therapy and renal function in 201 patients with Fabry disease
-
Schwarting A et al. (2006) Enzyme replacement therapy and renal function in 201 patients with Fabry disease. Clin Nephrol 66: 77-84
-
(2006)
Clin Nephrol
, vol.66
, pp. 77-84
-
-
Schwarting, A.1
-
42
-
-
44449155644
-
-
ClinicalTrials.gov (online April 2007) Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study (NCT00455104) [http:// clinicaltrials.gov/ct/show/NCT00455104?order=2term=NCT00446862&submit= Search] (accessed 23 October 2007)
-
ClinicalTrials.gov (online April 2007) Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study (NCT00455104) [http:// clinicaltrials.gov/ct/show/NCT00455104?order=2term=NCT00446862&submit= Search] (accessed 23 October 2007)
-
-
-
-
43
-
-
39549116083
-
Treatment of Fabry disease: Outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg
-
Vedder AC et al. (2007) Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS ONE 2: e598
-
(2007)
PLoS ONE
, vol.2
-
-
Vedder, A.C.1
-
44
-
-
33645454578
-
Diagnosis and management of kidney involvement in Fabry disease
-
Warnock DG and West ML (2006) Diagnosis and management of kidney involvement in Fabry disease. Adv Chronic Kidney Dis 13: 138-147
-
(2006)
Adv Chronic Kidney Dis
, vol.13
, pp. 138-147
-
-
Warnock, D.G.1
West, M.L.2
-
45
-
-
15444367892
-
Fabry disease: Diagnosis and management, with emphasis on the renal manifestations
-
Warnock DG (2005) Fabry disease: diagnosis and management, with emphasis on the renal manifestations. Curr Opin Nephrol Hypertens 14: 87-95
-
(2005)
Curr Opin Nephrol Hypertens
, vol.14
, pp. 87-95
-
-
Warnock, D.G.1
-
46
-
-
10644231988
-
Fabry disease: Overall effects of agalsidase alfa treatment
-
Beck M et al. (2004) Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 34: 838-844
-
(2004)
Eur J Clin Invest
, vol.34
, pp. 838-844
-
-
Beck, M.1
-
47
-
-
34248222634
-
Enzyme replacement therapy and Fabry kidney disease: Quo vadis?
-
Warnock DG (2007) Enzyme replacement therapy and Fabry kidney disease: quo vadis? J Am Soc Nephrol 18: 1368-1370
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1368-1370
-
-
Warnock, D.G.1
-
48
-
-
0038460302
-
-
Chobanian AV et al. (2003) The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure: the JNC 7 report. JAMA 289: 2560-2572
-
Chobanian AV et al. (2003) The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure: the JNC 7 report. JAMA 289: 2560-2572
-
-
-
-
49
-
-
33746318436
-
Prevalence of uncontrolled hypertension in patients with Fabry disease
-
Kleinert J et al. (2006) Prevalence of uncontrolled hypertension in patients with Fabry disease. Am J Hypertens 19: 782-787
-
(2006)
Am J Hypertens
, vol.19
, pp. 782-787
-
-
Kleinert, J.1
-
50
-
-
34548474768
-
Antiproteinuric therapy and Fabry nephropathy: Sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta
-
Tahir H et al. (2007) Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol 18: 2609-2617
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 2609-2617
-
-
Tahir, H.1
-
51
-
-
44449157981
-
-
ClinicalTrials.gov (online 10 April 2007) The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) Study (NCT00446862) [http://www. clinicaltrials.gov/ct/show/NCT00446862?order=1] (accessed 23 October 2007)
-
ClinicalTrials.gov (online 10 April 2007) The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) Study (NCT00446862) [http://www. clinicaltrials.gov/ct/show/NCT00446862?order=1] (accessed 23 October 2007)
-
-
-
-
52
-
-
44449108437
-
Glomerular and vascular changes are prominent in renal biopsies in children and adolescents with Fabry disease and minimal albuminuria
-
in press
-
Tondel C et al: Glomerular and vascular changes are prominent in renal biopsies in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis, in press
-
Am J Kidney Dis
-
-
Tondel, C.1
-
53
-
-
33645528253
-
Clinical benefit of enzyme replacement therapy in Fabry disease
-
Breunig F et al. (2006) Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 69: 1216-1221
-
(2006)
Kidney Int
, vol.69
, pp. 1216-1221
-
-
Breunig, F.1
-
54
-
-
0034660663
-
Excellent outcome of renal transplantation in patients with Fabry's disease
-
Ojo A et al. (2000) Excellent outcome of renal transplantation in patients with Fabry's disease. Transplantation 69: 2337-2339
-
(2000)
Transplantation
, vol.69
, pp. 2337-2339
-
-
Ojo, A.1
-
55
-
-
1642463470
-
Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: A pilot study
-
Mignani R et al. (2004) Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study. Kidney Int 65: 1381-1385
-
(2004)
Kidney Int
, vol.65
, pp. 1381-1385
-
-
Mignani, R.1
-
56
-
-
33846909516
-
Enzyme replacement in Fabry disease: The essence is in the kidney
-
Schiffmann R (2007) Enzyme replacement in Fabry disease: the essence is in the kidney. Ann Intern Med 146: 142-144
-
(2007)
Ann Intern Med
, vol.146
, pp. 142-144
-
-
Schiffmann, R.1
-
57
-
-
44449108942
-
Developing a chronicity index for kidney involvement in Fabry disease; report of the International Fabry kidney biopsy working group [abstract]
-
Fogo A et al. (2006) Developing a chronicity index for kidney involvement in Fabry disease; report of the International Fabry kidney biopsy working group [abstract]. J Am Soc Nephrol 17: 626A
-
(2006)
J Am Soc Nephrol
, vol.17
-
-
Fogo, A.1
-
58
-
-
34250353162
-
Staging of Fabry disease using renal biopsies
-
Oliveira JP (2007) Staging of Fabry disease using renal biopsies. Clin Ther 29: S15-S16
-
(2007)
Clin Ther
, vol.29
-
-
Oliveira, J.P.1
|