-
1
-
-
33947673920
-
Rheumatologic aspects of lysosomal storage diseases
-
Essentials of LSDs regarding diagnosis and differential diagnosis in order to improve the rheumatologist's awareness
-
Manger B, Mengel E, Schaefer RM. Rheumatologic aspects of lysosomal storage diseases. Clin Rheumatol 2007; 26:335-341. Essentials of LSDs regarding diagnosis and differential diagnosis in order to improve the rheumatologist's awareness.
-
(2007)
Clin Rheumatol
, vol.26
, pp. 335-341
-
-
Manger, B.1
Mengel, E.2
Schaefer, R.M.3
-
2
-
-
33846198829
-
-
Sifuentes M, Doroshow R, Hoft R, et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 2007; 90:171-180. A thoroughly performed reevaluation of five of 10 patients after 6 years of treatment with laronidase (ERT) demonstrating that early treatment may lead to better outcomes. This study provides insights concerning long-term efficacy and ongoing problems.
-
Sifuentes M, Doroshow R, Hoft R, et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 2007; 90:171-180. A thoroughly performed reevaluation of five of 10 patients after 6 years of treatment with laronidase (ERT) demonstrating that early treatment may lead to better outcomes. This study provides insights concerning long-term efficacy and ongoing problems.
-
-
-
-
3
-
-
33847274180
-
The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease
-
This study, from the international Gaucher registry database, investigates the efficacy of ERT. The outcome regarding the most disabling bone manifestations was analyzed
-
Charrow J, Dulisse B, Grabowski GA, Weinreb NJ. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet 2007; 71:205-211. This study, from the international Gaucher registry database, investigates the efficacy of ERT. The outcome regarding the most disabling bone manifestations was analyzed.
-
(2007)
Clin Genet
, vol.71
, pp. 205-211
-
-
Charrow, J.1
Dulisse, B.2
Grabowski, G.A.3
Weinreb, N.J.4
-
4
-
-
33846908304
-
Agalsidase-beta therapy for advanced Fabry disease: A randomized trial
-
Small, randomized, double-blind, placebo-controlled study demonstrating that ERT may reduce the frequency of renal, cardiovascular, or cerebrovascular events
-
Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007; 146:77-86. Small, randomized, double-blind, placebo-controlled study demonstrating that ERT may reduce the frequency of renal, cardiovascular, or cerebrovascular events.
-
(2007)
Ann Intern Med
, vol.146
, pp. 77-86
-
-
Banikazemi, M.1
Bultas, J.2
Waldek, S.3
-
5
-
-
11344295301
-
Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I)
-
Pastores GM, Meere PA. Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). Curr Opin Rheumatol 2005; 17:70-78.
-
(2005)
Curr Opin Rheumatol
, vol.17
, pp. 70-78
-
-
Pastores, G.M.1
Meere, P.A.2
-
6
-
-
34047274124
-
-
Pastores GM, Arn P, Beck M, et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab 2007; 91:37-47. The first report from the MPS I Registry that thoroughly summarizes the signs and symptoms in a large number of patients (302) suffering from this heterogeneous disorder revealing important clinical information.
-
Pastores GM, Arn P, Beck M, et al. The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab 2007; 91:37-47. The first report from the MPS I Registry that thoroughly summarizes the signs and symptoms in a large number of patients (302) suffering from this heterogeneous disorder revealing important clinical information.
-
-
-
-
7
-
-
33744810067
-
-
Cimaz R, Vijay S, Haase C, et al. Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. Clin Exp Rheumatol 2006; 24:196-202. Thorough description of 13 MPS I-Scheie patients and of the clues which differentiate them from juvenile idiopathic arthritis.
-
Cimaz R, Vijay S, Haase C, et al. Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. Clin Exp Rheumatol 2006; 24:196-202. Thorough description of 13 MPS I-Scheie patients and of the clues which differentiate them from juvenile idiopathic arthritis.
-
-
-
-
8
-
-
33744978567
-
-
Harmatz P, Giugliani R, Schwartz I, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr 2006; 148:533-539. This international multicenter, placebo-controlled phase III study regarding the efficacy of ERT in MPS VI demonstrates a clinical benefit in the primary endpoint (12 min walk test).
-
Harmatz P, Giugliani R, Schwartz I, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr 2006; 148:533-539. This international multicenter, placebo-controlled phase III study regarding the efficacy of ERT in MPS VI demonstrates a clinical benefit in the primary endpoint (12 min walk test).
-
-
-
-
9
-
-
33846899175
-
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)
-
This initial ERT phase I/II study in MPS II presents safety as well as efficacy data
-
Muenzer J, Gucsavas-Calikoglu M, McCandless SE, et al. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab 2007; 90:329-337. This initial ERT phase I/II study in MPS II presents safety as well as efficacy data.
-
(2007)
Mol Genet Metab
, vol.90
, pp. 329-337
-
-
Muenzer, J.1
Gucsavas-Calikoglu, M.2
McCandless, S.E.3
-
10
-
-
34447266922
-
Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4- sulfatase in feline mucopolysaccharidosis VI
-
Auclair D, Hopwood JJ, Lemontt JF, et al. Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4- sulfatase in feline mucopolysaccharidosis VI. Mol Genet Metab 2007; 91:352-361.
-
(2007)
Mol Genet Metab
, vol.91
, pp. 352-361
-
-
Auclair, D.1
Hopwood, J.J.2
Lemontt, J.F.3
-
11
-
-
33744957572
-
-
Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006; 160:603-608. Excellent presentation of the clinical and demographic features of 887 pediatric patients with Gaucher disease. In more than 10% of the patients, bone manifestations are the first recognized symptom.
-
Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med 2006; 160:603-608. Excellent presentation of the clinical and demographic features of 887 pediatric patients with Gaucher disease. In more than 10% of the patients, bone manifestations are the first recognized symptom.
-
-
-
-
12
-
-
32244434558
-
Fibromyalgia and Gaucher's disease
-
This well designed study is important in the differential diagnostic considerations of rheumatologists. Altogether, 109 Gaucher disease patients were investigated, of whom six fulfil the criteria of fibromyalgia
-
Brautbar A, Elstein D, Pines B, et al. Fibromyalgia and Gaucher's disease. QJM 2006; 99:103-107. This well designed study is important in the differential diagnostic considerations of rheumatologists. Altogether, 109 Gaucher disease patients were investigated, of whom six fulfil the criteria of fibromyalgia.
-
(2006)
QJM
, vol.99
, pp. 103-107
-
-
Brautbar, A.1
Elstein, D.2
Pines, B.3
-
13
-
-
33846032322
-
Guidelines for Belgian MR centers for monitoring of bone marrow involvement in patients with Gaucher disease
-
Vanhoenacker FM, Maas M. Guidelines for Belgian MR centers for monitoring of bone marrow involvement in patients with Gaucher disease. JBR-BTR 2006; 89:321-324.
-
(2006)
JBR-BTR
, vol.89
, pp. 321-324
-
-
Vanhoenacker, F.M.1
Maas, M.2
-
14
-
-
34249882193
-
Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gaucher's disease using the bone marrow burden score
-
Robertson PL, Maas M, Goldblatt J. Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gaucher's disease using the bone marrow burden score. AJR Am J Roentgenol 2007; 188:1521-1528.
-
(2007)
AJR Am J Roentgenol
, vol.188
, pp. 1521-1528
-
-
Robertson, P.L.1
Maas, M.2
Goldblatt, J.3
-
15
-
-
33745728033
-
Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients
-
Well performed review with conclusive recommendations regarding the monitoring of bone disease
-
vom Dahl S, Poll L, Di Rocco M, et al. Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients. Curr Med Res Opin 2006; 22:1045-1064. Well performed review with conclusive recommendations regarding the monitoring of bone disease.
-
(2006)
Curr Med Res Opin
, vol.22
, pp. 1045-1064
-
-
vom Dahl, S.1
Poll, L.2
Di Rocco, M.3
-
16
-
-
33845933154
-
Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease
-
Wenstrup RJ, Kacena KA, Kaplan P, et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res 2007; 22:119-126.
-
(2007)
J Bone Miner Res
, vol.22
, pp. 119-126
-
-
Wenstrup, R.J.1
Kacena, K.A.2
Kaplan, P.3
-
17
-
-
34248153885
-
Monitoring of Gaucher patients with a novel chitotriosidase assay
-
This lab study is primarily of interest for biochemists who assist in the monitoring of Gaucher disease patients. A new, more accurate assay to determine chitotriosidase has been developed
-
Schoonhoven A, Rudensky B, Elstein D, et al. Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin Chim Acta 2007; 381:136-139. This lab study is primarily of interest for biochemists who assist in the monitoring of Gaucher disease patients. A new, more accurate assay to determine chitotriosidase has been developed.
-
(2007)
Clin Chim Acta
, vol.381
, pp. 136-139
-
-
Schoonhoven, A.1
Rudensky, B.2
Elstein, D.3
-
18
-
-
34250001946
-
Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease
-
This lab study gives new insights into the involvement of secondary pathways of Gaucher disease, that is, bone involvement
-
van Breemen MJ, de Fost M, Voerman JS, et al. Increased plasma macrophage inflammatory protein (MIP)-1alpha and MIP-1beta levels in type 1 Gaucher disease. Biochim Biophys Acta 2007; 1772:788-796. This lab study gives new insights into the involvement of secondary pathways of Gaucher disease, that is, bone involvement.
-
(2007)
Biochim Biophys Acta
, vol.1772
, pp. 788-796
-
-
van Breemen, M.J.1
de Fost, M.2
Voerman, J.S.3
-
19
-
-
33744747265
-
Bone destruction in multiple myeloma
-
Matsumoto T, Abe M. Bone destruction in multiple myeloma. Ann N Y Acad Sci 2006; 1068:319-326.
-
(2006)
Ann N Y Acad Sci
, vol.1068
, pp. 319-326
-
-
Matsumoto, T.1
Abe, M.2
-
20
-
-
18844388455
-
Gaucher disease and cancer incidence: A study from the Gaucher Registry
-
Rosenbloom BE, Weinreb NJ, Zimran A, et al. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood 2005; 105:4569-4572.
-
(2005)
Blood
, vol.105
, pp. 4569-4572
-
-
Rosenbloom, B.E.1
Weinreb, N.J.2
Zimran, A.3
-
21
-
-
30344488170
-
Increased incidence of cancer in adult Gaucher disease in Western Europe
-
de Fost M, vom Dahl S, Weverling GJ, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis 2006; 36:53-58.
-
(2006)
Blood Cells Mol Dis
, vol.36
, pp. 53-58
-
-
de Fost, M.1
vom Dahl, S.2
Weverling, G.J.3
-
22
-
-
33748746594
-
Fabry disease: Guidelines for the evaluation and management of multiorgan system involvement
-
Based on the present knowledge on Fabry disease, an international panel of physicians with expertise in the disease provides thorough recommendations for diagnosis and treatment
-
Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multiorgan system involvement. Genet Med 2006; 8:539-548. Based on the present knowledge on Fabry disease, an international panel of physicians with expertise in the disease provides thorough recommendations for diagnosis and treatment.
-
(2006)
Genet Med
, vol.8
, pp. 539-548
-
-
Eng, C.M.1
Germain, D.P.2
Banikazemi, M.3
-
23
-
-
33947687663
-
-
Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007; 30:184-192. This extensive description of demographic and clinical features of Fabry disease based on a large number of patients (1765 by December 2005) enrolled in the Fabry Registry database will certainly improve its recognition.
-
Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007; 30:184-192. This extensive description of demographic and clinical features of Fabry disease based on a large number of patients (1765 by December 2005) enrolled in the Fabry Registry database will certainly improve its recognition.
-
-
-
-
24
-
-
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
-
25
-
-
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
-
27
-
-
20444410591
-
Minimally invasive procedures
-
Hochberg MC, Silman AJ, Smolen JS, et al, editors, 3rd ed. Edinburgh: Mosby;
-
Ike RW. Minimally invasive procedures. In: Hochberg MC, Silman AJ, Smolen JS, et al., editors. Rheumatology, 3rd ed. Edinburgh: Mosby; 2003. p. 248.
-
(2003)
Rheumatology
, pp. 248
-
-
Ike, R.W.1
-
28
-
-
0000889058
-
Alpha-galactosidase A deficiency: Fabry disease
-
Scriver CR, Sly WS, editors, 8th ed. New York: McGraw-Hill;
-
Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Sly WS, editors. The metabolic and molecular basis of inherited disease, 8th ed. New York: McGraw-Hill; 2000. pp. 37-74.
-
(2000)
The metabolic and molecular basis of inherited disease
, pp. 37-74
-
-
Desnick, R.J.1
Ioannou, Y.A.2
Eng, C.M.3
-
30
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999; 105:151-156.
-
(1999)
Hum Genet
, vol.105
, pp. 151-156
-
-
Poorthuis, B.J.1
Wevers, R.A.2
Kleijer, W.J.3
-
31
-
-
33745280137
-
High incidence of later-onset Fabry disease revealed by newborn screening
-
The results of the screening of 37 104 consecutive newborn males for Fabry disease suggest that the frequency of the disease may have been dramatically underestimated
-
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. The results of the screening of 37 104 consecutive newborn males for Fabry disease suggest that the frequency of the disease may have been dramatically underestimated.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
-
32
-
-
29944437554
-
Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey
-
Largest cohort of children with Fabry disease ever studied will facilitate the earlier recognition of affected children
-
Ramaswami U, Whybra C, Parini R, et al. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006; 95:86-92. Largest cohort of children with Fabry disease ever studied will facilitate the earlier recognition of affected children.
-
(2006)
Acta Paediatr
, vol.95
, pp. 86-92
-
-
Ramaswami, U.1
Whybra, C.2
Parini, R.3
-
33
-
-
33747191418
-
Hyperhidrosis: A new and often early symptom in Fabry disease: international experience and data from the Fabry Outcome Survey
-
Lidove O, Ramaswami U, Jaussaud R, et al. Hyperhidrosis: a new and often early symptom in Fabry disease: international experience and data from the Fabry Outcome Survey. Int J Clin Pract 2006; 60:1053-1059.
-
(2006)
Int J Clin Pract
, vol.60
, pp. 1053-1059
-
-
Lidove, O.1
Ramaswami, U.2
Jaussaud, R.3
-
34
-
-
33645781485
-
Natural history of Fabry disease in females in the Fabry Outcome Survey
-
Thorough evaluation of the data on 303 females (largest cohort of females heterozygous for Fabry disease) out of 608 patients of the Fabry Outcome Survey database revealing the considerable morbidity of women with Fabry disease
-
Deegan PB, Baehner AF, Barba Romero MA, et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet 2006; 43:347-352. Thorough evaluation of the data on 303 females (largest cohort of females heterozygous for Fabry disease) out of 608 patients of the Fabry Outcome Survey database revealing the considerable morbidity of women with Fabry disease.
-
(2006)
J Med Genet
, vol.43
, pp. 347-352
-
-
Deegan, P.B.1
Baehner, A.F.2
Barba Romero, M.A.3
-
35
-
-
33846265851
-
Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life
-
Excellent study of 44 heterozygous females with Fabry disease followed at a single center, demonstrating that most women suffer from significant multisystemic disease
-
Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med 2007; 9:34-45. Excellent study of 44 heterozygous females with Fabry disease followed at a single center, demonstrating that most women suffer from significant multisystemic disease.
-
(2007)
Genet Med
, vol.9
, pp. 34-45
-
-
Wang, R.Y.1
Lelis, A.2
Mirocha, J.3
Wilcox, W.R.4
-
36
-
-
33846805931
-
-
Sodi A, Ioannidis AS, Mehta A, et al. Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey. Br J Ophthalmol 2007; 91:210-214. Thorough evaluation of the ocular manifestations of 173 out of 688 patients with Fabry disease enrolled in the Fabry Outcome Survey (by March 2005) with important information for recognition as well as for monitoring these patients.
-
Sodi A, Ioannidis AS, Mehta A, et al. Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey. Br J Ophthalmol 2007; 91:210-214. Thorough evaluation of the ocular manifestations of 173 out of 688 patients with Fabry disease enrolled in the Fabry Outcome Survey (by March 2005) with important information for recognition as well as for monitoring these patients.
-
-
-
-
37
-
-
33947718746
-
Narrative review: Fabry disease
-
Comprehensive synopsis of the current knowledge on Fabry disease for 'newcomers
-
Clarke JT. Narrative review: Fabry disease. Ann Intern Med 2007; 146:425-433. Comprehensive synopsis of the current knowledge on Fabry disease for 'newcomers'.
-
(2007)
Ann Intern Med
, vol.146
, pp. 425-433
-
-
Clarke, J.T.1
-
38
-
-
0036234750
-
Advances in the management of Anderson-Fabry disease: Enzyme replacement therapy
-
Pastores GM, Thadhani R. Advances in the management of Anderson-Fabry disease: enzyme replacement therapy. Expert Opin Biol Ther 2002; 2:325-333.
-
(2002)
Expert Opin Biol Ther
, vol.2
, pp. 325-333
-
-
Pastores, G.M.1
Thadhani, R.2
-
39
-
-
33747116927
-
Enzyme replacement therapy and renal function in 201 patients with Fabry disease
-
Evaluation of the data of 201 Fabry disease patients with renal involvement which demonstrates that a deterioration of renal function may be prohibited or at least delayed via ERT
-
Schwarting A, Dehout F, Feriozzi S, et al. Enzyme replacement therapy and renal function in 201 patients with Fabry disease. Clin Nephrol 2006; 66:77-84. Evaluation of the data of 201 Fabry disease patients with renal involvement which demonstrates that a deterioration of renal function may be prohibited or at least delayed via ERT.
-
(2006)
Clin Nephrol
, vol.66
, pp. 77-84
-
-
Schwarting, A.1
Dehout, F.2
Feriozzi, S.3
-
40
-
-
33749067655
-
Enzyme-replacement therapy with Agalsidase alfa in children with Fabry disease
-
Prospective, 6-month, open-label study on 24 children with Fabry disease showing that ERT (Agalsidase-α) is safe
-
Ries M, Clarke JT, Whybra C, et al. Enzyme-replacement therapy with Agalsidase alfa in children with Fabry disease. Pediatrics 2006; 118:924-932. Prospective, 6-month, open-label study on 24 children with Fabry disease showing that ERT (Agalsidase-α) is safe.
-
(2006)
Pediatrics
, vol.118
, pp. 924-932
-
-
Ries, M.1
Clarke, J.T.2
Whybra, C.3
-
41
-
-
34248190164
-
Sustained, long-term renal stabilization after 54 months of Agalsidase beta therapy in patients with Fabry disease
-
Open-label phase III extension trial with Agalsidase-β involving 58 Fabry disease patients, six of whom demonstrated renal disease progression while the remaining 52 patients exhibited stable renal function
-
Germain DP, Waldek S, Banikazemi M, et al. Sustained, long-term renal stabilization after 54 months of Agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007; 18:1547-1557. Open-label phase III extension trial with Agalsidase-β involving 58 Fabry disease patients, six of whom demonstrated renal disease progression while the remaining 52 patients exhibited stable renal function.
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1547-1557
-
-
Germain, D.P.1
Waldek, S.2
Banikazemi, M.3
-
42
-
-
31544456336
-
-
Schiffmann R, Ries M, Timmons M, et al. 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. Single center, prospective, open-label phase III extension trial (Agalsidase-α) including 25 adult male Fabry disease patients, demonstrating that a deterioration of renal function may be delayed.
-
Schiffmann R, Ries M, Timmons M, et al. 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. Single center, prospective, open-label phase III extension trial (Agalsidase-α) including 25 adult male Fabry disease patients, demonstrating that a deterioration of renal function may be delayed.
-
-
-
|