-
1
-
-
50149108962
-
Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed
-
Al Sawaf S, Mayatepek E, Hoffmann B (2008) Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. J Inherit Metab Dis 31:473-480
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 473-480
-
-
Al Sawaf, S.1
Mayatepek, E.2
Hoffmann, B.3
-
3
-
-
0036792396
-
Spectral profiles of cultured neuronal and glial cells derived from HRMAS (1)H NMR spectroscopy
-
Griffin JL, Bollard M, Nicholson JK, Bhakoo K (2002) Spectral profiles of cultured neuronal and glial cells derived from HRMAS (1)H NMR spectroscopy. NMR Biomed 15:375-384
-
(2002)
NMR Biomed
, vol.15
, pp. 375-384
-
-
Griffin, J.L.1
Bollard, M.2
Nicholson, J.K.3
Bhakoo, K.4
-
4
-
-
41949126259
-
Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: Analysis of human brain tissue
-
Hamano K, Hayashi M, Shioda K et al. (2008) Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue. Acta Neuropathol 115:547-559
-
(2008)
Acta Neuropathol
, vol.115
, pp. 547-559
-
-
Hamano, K.1
Hayashi, M.2
Shioda, K.3
-
5
-
-
69449091683
-
Mortality and cause of death in mucopolysaccharidosis type II-A historical review based on data from the Hunter Outcome Survey (HOS)
-
Jones SA, Almassy Z, Beck M et al. (2009) Mortality and cause of death in mucopolysaccharidosis type II-A historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis 32:534-543
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 534-543
-
-
Jones, S.A.1
Almassy, Z.2
Beck, M.3
-
6
-
-
33745655230
-
Diffuse structural and metabolic brain changes in Fabry disease
-
Marino S, Borsini W, Buchner S et al. (2006) Diffuse structural and metabolic brain changes in Fabry disease. J Neurol 253:434-440
-
(2006)
J Neurol
, vol.253
, pp. 434-440
-
-
Marino, S.1
Borsini, W.2
Buchner, S.3
-
7
-
-
33747209013
-
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
-
Muenzer J, Wraith JE, Beck M et al. (2006) A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 8:465-473
-
(2006)
Genet Med
, vol.8
, pp. 465-473
-
-
Muenzer, J.1
Wraith, J.E.2
Beck, M.3
-
8
-
-
0037452606
-
Activated microglia in cortex of mouse models of mucopolysaccharidoses i and IIIB
-
Ohmi K, Greenberg DS, Rajavel KS, Ryazantsev S, Li HH, Neufeld EF (2003) Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc Natl Acad Sci USA 100:1902-1907
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 1902-1907
-
-
Ohmi, K.1
Greenberg, D.S.2
Rajavel, K.S.3
Ryazantsev, S.4
Li, H.H.5
Neufeld, E.F.6
-
9
-
-
0034959727
-
Automatic quantitation of localized in vivo 1H spectra with LCModel
-
Provencher SW (2001) Automatic quantitation of localized in vivo 1H spectra with LCModel. NMR Biomed 14:260-264
-
(2001)
NMR Biomed
, vol.14
, pp. 260-264
-
-
Provencher, S.W.1
-
10
-
-
0034955983
-
Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation
-
Seto T, Kono K, Morimoto K et al. (2001) Brain magnetic resonance imaging in 23 patients with mucopolysaccharidoses and the effect of bone marrow transplantation. Ann Neurol 50:79-92
-
(2001)
Ann Neurol
, vol.50
, pp. 79-92
-
-
Seto, T.1
Kono, K.2
Morimoto, K.3
-
11
-
-
0033549065
-
Diffuse central neuronal involvement in Fabry disease: A proton MRS imaging study
-
Tedeschi G, Bonavita S, Banerjee TK, Virta A, Schiffmann R (1999) Diffuse central neuronal involvement in Fabry disease: a proton MRS imaging study. Neurology 52:1663-1667
-
(1999)
Neurology
, vol.52
, pp. 1663-1667
-
-
Tedeschi, G.1
Bonavita, S.2
Banerjee, T.K.3
Virta, A.4
Schiffmann, R.5
-
12
-
-
34548203201
-
Brain MRI in mucopolysaccharidosis: Effect of aging and correlation with biochemical findings
-
Vedolin L, Schwartz IV, Komlos M et al. (2007a) Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings. Neurology 69:917-924
-
(2007)
Neurology
, vol.69
, pp. 917-924
-
-
Vedolin, L.1
Schwartz, I.V.2
Komlos, M.3
-
13
-
-
34250822221
-
Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II
-
Vedolin L, Schwartz IV, Komlos M et al. (2007b) Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. Am J Neuroradiol 28:1029-1033
-
(2007)
Am J Neuroradiol
, vol.28
, pp. 1029-1033
-
-
Vedolin, L.1
Schwartz, I.V.2
Komlos, M.3
-
14
-
-
64449085191
-
Pathogenic cascades in lysosomal disease-Why so complex?
-
Walkley SU (2009) Pathogenic cascades in lysosomal disease-Why so complex? J Inherit Metab Dis 32:181-189
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 181-189
-
-
Walkley, S.U.1
|