-
1
-
-
0037452544
-
Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy
-
Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003; 138: 338.
-
(2003)
Ann Intern Med
, vol.138
, pp. 338
-
-
Desnick, R.J.1
Brady, R.2
Barranger, J.3
-
2
-
-
0028269904
-
Molecular basis of Fabry disease: Mutations and polymorphisms in the human alpha-galactosidase A gene
-
Eng CM, Desnick RJ. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat 1994; 3: 103.
-
(1994)
Hum Mutat
, vol.3
, pp. 103
-
-
Eng, C.M.1
Desnick, R.J.2
-
3
-
-
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 Gen 2006; 79: 31.
-
(2006)
Am J Hum Gen
, vol.79
, pp. 31
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
-
4
-
-
23944489917
-
Fabry disease: Correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes
-
Matsuzawa F, Aikawa S, Doi H, Okumiya T, Sakuraba H. Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes. Hum Genet 2005; 117: 317.
-
(2005)
Hum Genet
, vol.117
, pp. 317
-
-
Matsuzawa, F.1
Aikawa, S.2
Doi, H.3
Okumiya, T.4
Sakuraba, H.5
-
5
-
-
0035097499
-
A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies
-
Eng CM, Banikazemi M, Gordon RE, et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001; 68: 711.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 711
-
-
Eng, C.M.1
Banikazemi, M.2
Gordon, R.E.3
-
6
-
-
0035816007
-
Enzyme replacement therapy in Fabry disease: A randomized controlled trial
-
Schiffmann R, Kopp JB, Austin 3rd HA, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285: 2743.
-
(2001)
JAMA
, vol.285
, pp. 2743
-
-
Schiffmann, R.1
Kopp, J.B.2
Austin 3rd, H.A.3
-
7
-
-
11144358101
-
The Mainz Severity Score Index: A new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy
-
Whybra C, Kampmann C, Krummenauer F, et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 2004; 65: 299.
-
(2004)
Clin Genet
, vol.65
, pp. 299
-
-
Whybra, C.1
Kampmann, C.2
Krummenauer, F.3
-
8
-
-
16844370666
-
Genotype and phenotype in Fabry disease: Analysis of the Fabry Outcome Survey
-
discussion 79
-
Schaefer E, Mehta A, Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl 2005; 94: 87-92; (discussion 79).
-
(2005)
Acta Paediatr Suppl
, vol.94
, pp. 87-92
-
-
Schaefer, E.1
Mehta, A.2
Gal, A.3
-
9
-
-
0037093476
-
Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling
-
Myerowitz R, Lawson D, Mizukami H, Mi Y, Tifft CJ, Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol Genet 2002; 11: 1343.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1343
-
-
Myerowitz, R.1
Lawson, D.2
Mizukami, H.3
Mi, Y.4
Tifft, C.J.5
Proia, R.L.6
-
10
-
-
17744378748
-
Joint and bone disease in mucopolysaccharidoses VI and VII: Identification of new therapeutic targets and biomarkers using animal models
-
Simonaro CM, D'Angelo M, Haskins ME, Schuchman EH. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr Res 2005; 57(5 Pt 1): 701.
-
(2005)
Pediatr Res
, vol.57
, Issue.5 PART 1
, pp. 701
-
-
Simonaro, C.M.1
D'Angelo, M.2
Haskins, M.E.3
Schuchman, E.H.4
-
11
-
-
10944272502
-
Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model
-
Rogowski O, Shapira I, Zimran A, Zeltser D, Elstein D, Attias D, et al. Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model. Blood Cells Mol Dis 2005; 34: 26.
-
(2005)
Blood Cells Mol Dis
, vol.34
, pp. 26
-
-
Rogowski, O.1
Shapira, I.2
Zimran, A.3
Zeltser, D.4
Elstein, D.5
Attias, D.6
-
12
-
-
33646438843
-
Prostaglandin D2-mediated microglia/astrocyte interaction enhances astrogliosis and demyelination in twitcher
-
Mohri I, Taniike M, Taniguchi H, Kanekiyo T, Aritake K, Inui T, et al. Prostaglandin D2-mediated microglia/astrocyte interaction enhances astrogliosis and demyelination in twitcher. J Neurosci 2006; 26: 4383.
-
(2006)
J Neurosci
, vol.26
, pp. 4383
-
-
Mohri, I.1
Taniike, M.2
Taniguchi, H.3
Kanekiyo, T.4
Aritake, K.5
Inui, T.6
-
13
-
-
23844449568
-
AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease
-
Barbon CM, Ziegler RJ, Li C, Armentano D, Cherry M, Desnick RJ, et al. AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. Mol Ther 2005; 12: 431.
-
(2005)
Mol Ther
, vol.12
, pp. 431
-
-
Barbon, C.M.1
Ziegler, R.J.2
Li, C.3
Armentano, D.4
Cherry, M.5
Desnick, R.J.6
-
14
-
-
2942563944
-
Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice
-
Wu YP, Proia RL. Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice. Proc Natl Acad Sci USA 2004; 101: 8425.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 8425
-
-
Wu, Y.P.1
Proia, R.L.2
-
15
-
-
0842320913
-
Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: Immunohistochemical observations of microglia and astroglia
-
Baudry M, Yao Y, Simmons D, Liu J, Bi X. Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astroglia. Exp Neurol 2003; 184: 887.
-
(2003)
Exp Neurol
, vol.184
, pp. 887
-
-
Baudry, M.1
Yao, Y.2
Simmons, D.3
Liu, J.4
Bi, X.5
-
16
-
-
22644443414
-
Transient siRNA-mediated attenuation of liver expression from an alpha-galactosidase A plasmid reduces subsequent humoral immune responses to the transgene product in mice
-
Chu Q, Joseph M, Przybylska M, Yew NS, Scheule RK. Transient siRNA-mediated attenuation of liver expression from an alpha-galactosidase A plasmid reduces subsequent humoral immune responses to the transgene product in mice. Mol Ther 2005; 12: 264.
-
(2005)
Mol Ther
, vol.12
, pp. 264
-
-
Chu, Q.1
Joseph, M.2
Przybylska, M.3
Yew, N.S.4
Scheule, R.K.5
-
17
-
-
33744719480
-
Inhibition of IL-1, IL-6, and TNF-alpha in immune-mediated inflammatory diseases
-
Moller B, Villiger PM. Inhibition of IL-1, IL-6, and TNF-alpha in immune-mediated inflammatory diseases. Springer Semin Immunopathol 2006; 27: 391.
-
(2006)
Springer Semin Immunopathol
, vol.27
, pp. 391
-
-
Moller, B.1
Villiger, P.M.2
-
18
-
-
11844282778
-
Cerebrovascular risk factors and clinical classification of strokes
-
Pinto A, Tuttolomondo A, Di Raimondo D, Fernandez P, Licata G. Cerebrovascular risk factors and clinical classification of strokes. Semin Vasc Med 2004; 4: 287.
-
(2004)
Semin Vasc Med
, vol.4
, pp. 287
-
-
Pinto, A.1
Tuttolomondo, A.2
Di Raimondo, D.3
Fernandez, P.4
Licata, G.5
-
19
-
-
0242552818
-
TNF-alpha and TNF-beta gene polymorphisms in cerebral infarction
-
Um JY, An NH, Kim HM. TNF-alpha and TNF-beta gene polymorphisms in cerebral infarction. J Mol Neurosci 2003; 21: 167.
-
(2003)
J Mol Neurosci
, vol.21
, pp. 167
-
-
Um, J.Y.1
An, N.H.2
Kim, H.M.3
-
20
-
-
18744370513
-
Interleukin 1 alpha gene polymorphism as a susceptibility factor in Alzheimer's disease and its influence on the extent of histopathological hallmark lesions of Alzheimer's disease
-
Pirskanen M, Hiltunen M, Mannermaa A, Iivonen S, Helisalmi S, Lehtovirta M, et al. Interleukin 1 alpha gene polymorphism as a susceptibility factor in Alzheimer's disease and its influence on the extent of histopathological hallmark lesions of Alzheimer's disease. Dement Geriatr Cogn Disord 2002; 14: 123.
-
(2002)
Dement Geriatr Cogn Disord
, vol.14
, pp. 123
-
-
Pirskanen, M.1
Hiltunen, M.2
Mannermaa, A.3
Iivonen, S.4
Helisalmi, S.5
Lehtovirta, M.6
-
21
-
-
33646269731
-
Association of interleukin-10 A-592C and T-819C polymorphisms with type 2 diabetes mellitus
-
Chang YH, Huang CN, Wu CY, Shiau MY. Association of interleukin-10 A-592C and T-819C polymorphisms with type 2 diabetes mellitus. Hum Immunol 2005; 66: 1258.
-
(2005)
Hum Immunol
, vol.66
, pp. 1258
-
-
Chang, Y.H.1
Huang, C.N.2
Wu, C.Y.3
Shiau, M.Y.4
-
22
-
-
27444447430
-
Differential effect of IL10 and TNF{alpha} genotypes on determining susceptibility to discoid and systemic lupus erythematosus
-
Suarez A, Lopez P, Mozo L, Gutierrez C. Differential effect of IL10 and TNF{alpha} genotypes on determining susceptibility to discoid and systemic lupus erythematosus. Ann Rheum Dis 2005; 64: 1605.
-
(2005)
Ann Rheum Dis
, vol.64
, pp. 1605
-
-
Suarez, A.1
Lopez, P.2
Mozo, L.3
Gutierrez, C.4
-
23
-
-
0038446841
-
Increased resistance of LFA-1-deficient mice to lipopolysaccharide-induced shock/liver injury in the presence of TNF-alpha and IL-12 is mediated by IL-10: A novel role for LFA-1 in the regulation of the proinflammatory and anti-inflammatory cytokine balance
-
Emoto M, Emoto Y, Brinkmann V, Miyamoto M, Yoshizawa I, Staber M, et al. Increased resistance of LFA-1-deficient mice to lipopolysaccharide-induced shock/liver injury in the presence of TNF-alpha and IL-12 is mediated by IL-10: a novel role for LFA-1 in the regulation of the proinflammatory and anti-inflammatory cytokine balance. J Immunol 2003; 171: 584.
-
(2003)
J Immunol
, vol.171
, pp. 584
-
-
Emoto, M.1
Emoto, Y.2
Brinkmann, V.3
Miyamoto, M.4
Yoshizawa, I.5
Staber, M.6
-
24
-
-
10744230051
-
IL-10 and TNF-alpha polymorphisms and the recovery from HCV infection
-
Lio D, Caruso C, Di Stefano R, Colonna Romano G, Ferraro D, Scola L, et al. IL-10 and TNF-alpha polymorphisms and the recovery from HCV infection. Hum Immunol 2003; 64: 674.
-
(2003)
Hum Immunol
, vol.64
, pp. 674
-
-
Lio, D.1
Caruso, C.2
Di Stefano, R.3
Colonna Romano, G.4
Ferraro, D.5
Scola, L.6
-
25
-
-
0034853490
-
Cytokine gene polymorphisms relevant for the spondyloarthropathies
-
Rudwaleit M, Hohler T. Cytokine gene polymorphisms relevant for the spondyloarthropathies. Curr Opin Rheumatol 2001; 13: 250.
-
(2001)
Curr Opin Rheumatol
, vol.13
, pp. 250
-
-
Rudwaleit, M.1
Hohler, T.2
|