-
1
-
-
0000869162
-
The mucopolysaccharidoses
-
In: Scriver, C.R. (ed.), McGraw-Hill, New York
-
Neufeld, E.F., Muenzer, J.: The mucopolysaccharidoses. In: Scriver, C.R. (ed.) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York (2001)
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
-
-
Neufeld, E.F.1
Muenzer, J.2
-
2
-
-
38849176942
-
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)
-
Martin, R., Beck, M., Eng, C., Giugliani, R., Harmatz, P., Munoz, V., Muenzer, J.: Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 121, e377-e386 (2008)
-
(2008)
Pediatrics
, vol.121
-
-
Martin, R.1
Beck, M.2
Eng, C.3
Giugliani, R.4
Harmatz, P.5
Munoz, V.6
Muenzer, J.7
-
3
-
-
39149118050
-
Mucopolysaccharidosis type II (Hunter syndrome): A clinical review and recommendations for treatment in the era of enzyme replacement therapy
-
Wraith, J.E., Scarpa, M., Beck, M., Bodamer, O.A., De Meirleir, L., Guffon, N., Meldgaard Lund, A., Malm, G., Van der Ploeg, A.T., Zeman, J.: Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur. J. Pediatr. 167(3), 267-277 (2008)
-
(2008)
Eur. J. Pediatr
, vol.167
, Issue.3
, pp. 267-277
-
-
Wraith, J.E.1
Scarpa, M.2
Beck, M.3
Bodamer, O.A.4
De Meirleir, L.5
Guffon, N.6
Meldgaard Lund, A.7
Malm, G.8
van der Ploeg, A.T.9
Zeman, J.10
-
5
-
-
35449003638
-
Computational prediction of the tertiary structure of the human iduronate 2-sulfate sulfatase
-
Saenz, H., Lareo, L., Poutou, R.A., Sosa, A.C., Barrera, L.A.: Computational prediction of the tertiary structure of the human iduronate 2-sulfate sulfatase. Biomedica 27(1), 7-20 (2007)
-
(2007)
Biomedica
, vol.27
, Issue.1
, pp. 7-20
-
-
Saenz, H.1
Lareo, L.2
Poutou, R.A.3
Sosa, A.C.4
Barrera, L.A.5
-
6
-
-
79956214174
-
Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II
-
Chkioua, L., Khedhiri, S., Ferchichi, S., Tcheng, R., Chahed, H., Froissart, R., Vianey- Saban, C., Laradi, S., Miled, A.: Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II. Diagn. Pathol. 6, 42 (2011)
-
(2011)
Diagn. Pathol
, vol.6
, pp. 42
-
-
Chkioua, L.1
Khedhiri, S.2
Ferchichi, S.3
Tcheng, R.4
Chahed, H.5
Froissart, R.6
Vianey-Saban, C.7
Laradi, S.8
Miled, A.9
-
7
-
-
0037390834
-
Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: Identification of 13 novel mutations
-
Kim, C.H., Hwang, H.Z., Song, S.M., Paik, K.H., Kwon, E.K., Moon, K.B., Yoon, J.H., Han, C.K., Jin, D.K.: Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations. Hum. Mutat. 21(4), 449-450 (2003)
-
(2003)
Hum. Mutat
, vol.21
, Issue.4
, pp. 449-450
-
-
Kim, C.H.1
Hwang, H.Z.2
Song, S.M.3
Paik, K.H.4
Kwon, E.K.5
Moon, K.B.6
Yoon, J.H.7
Han, C.K.8
Jin, D.K.9
-
8
-
-
25444454360
-
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II
-
Kato, T., Kato, Z., Kuratsubo, I., Tanaka, N., Ishigami, T., Kajihara, J., Sukegawa- Hayasaka, K., Orii, K., Isogai, K., Fukao, T., et al.: Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. J. Hum. Genet. 50(8), 395-402 (2005)
-
(2005)
J. Hum. Genet
, vol.50
, Issue.8
, pp. 395-402
-
-
Kato, T.1
Kato, Z.2
Kuratsubo, I.3
Tanaka, N.4
Ishigami, T.5
Kajihara, J.6
Sukegawa-Hayasaka, K.7
Orii, K.8
Isogai, K.9
Fukao, T.10
-
9
-
-
84894844844
-
-
Molecular Operating Environment (MOE), 2010.10; Chemical Computing Group Inc., 1010 Sherbooke St. West, Suite #910, Montreal, QC, Canada, H3A 2R7
-
Molecular Operating Environment (MOE), 2010.10; Chemical Computing Group Inc., 1010 Sherbooke St. West, Suite #910, Montreal, QC, Canada, H3A 2R7 (2010)
-
(2010)
-
-
-
10
-
-
32144432437
-
The SWISS-MODEL workspace: A web-based environment for protein structure homology modelling
-
Arnold, K., Bordoli, L., Kopp, J., Schwede, T.: The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 22(2), 195-201 (2006)
-
(2006)
Bioinformatics
, vol.22
, Issue.2
, pp. 195-201
-
-
Arnold, K.1
Bordoli, L.2
Kopp, J.3
Schwede, T.4
-
11
-
-
0037441653
-
Structure validation by Calpha geometry: Phi,psi and Cbeta deviation
-
Lovell, S.C., Davis, I.W., Arendall III W.B., de Bakker, P.I., Word, J.M., Prisant, M.G., Richardson, J.S., Richardson, D.C.: Structure validation by Calpha geometry: phi,psi and Cbeta deviation. Proteins 50(3), 437-450 (2003)
-
(2003)
Proteins
, vol.50
, Issue.3
, pp. 437-450
-
-
Lovell, S.C.1
Davis, I.W.2
Arendall III, W.B.3
de Bakker, P.I.4
Word, J.M.5
Prisant, M.G.6
Richardson, J.S.7
Richardson, D.C.8
-
12
-
-
76149120388
-
AutoDock Vina: Improving the speed and accuracy of docking with a new scoring function, efficient optimization, and multithreading
-
Trott, O., Olson, A.J.: AutoDock Vina: improving the speed and accuracy of docking with a new scoring function, efficient optimization, and multithreading. J. Comput. Chem. 31(2), 455-461 (2010)
-
(2010)
J. Comput. Chem
, vol.31
, Issue.2
, pp. 455-461
-
-
Trott, O.1
Olson, A.J.2
-
14
-
-
80054911951
-
LigPlot+: Multiple ligand-protein interaction diagrams for drug discovery
-
Laskowski, R.A., Swindells, M.B.: LigPlot+: multiple ligand-protein interaction diagrams for drug discovery. J. Chem. Inf. Model. 51(10), 2778-2786 (2011)
-
(2011)
J. Chem. Inf. Model
, vol.51
, Issue.10
, pp. 2778-2786
-
-
Laskowski, R.A.1
Swindells, M.B.2
-
15
-
-
84894762104
-
-
Universidad Nacional de Colombia, Colombia, unpublished data)
-
Galvis, J., Contreras, G., Correa, L., Sierra, G., Mansilla, S., Piñeros, L., Prieto, J.C., Corredor, C., Uribe, A., Velasco, H.: Identificación de mutaciones en el gen Iduronato 2 sulfatasa en pacientes colombianos con Síndrome de Hunter. Universidad Nacional de Colombia, Colombia (2012) (unpublished data)
-
(2012)
Identificación De Mutaciones En El Gen Iduronato 2 Sulfatasa En Pacientes Colombianos Con Síndrome De Hunter
-
-
Galvis, J.1
Contreras, G.2
Correa, L.3
Sierra, G.4
Mansilla, S.5
Piñeros, L.6
Prieto, J.C.7
Corredor, C.8
Uribe, A.9
Velasco, H.10
-
16
-
-
42749090539
-
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient
-
Lau, K.C., Lam, C.W.: Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient. Clin. Chim. Acta 392(1-2), 8-10 (2008)
-
(2008)
Clin. Chim. Acta
, vol.392
, Issue.1-2
, pp. 8-10
-
-
Lau, K.C.1
Lam, C.W.2
-
17
-
-
33751055330
-
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations
-
Alves, S., Mangas, M., Prata, M.J., Ribeiro, G., Lopes, L., Ribeiro, H., Pinto-Basto, J., Lima, M.R., Lacerda, L.: Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations. J. Inherit. Metab. Dis. 29(6), 743-754 (2006)
-
(2006)
J. Inherit. Metab. Dis
, vol.29
, Issue.6
, pp. 743-754
-
-
Alves, S.1
Mangas, M.2
Prata, M.J.3
Ribeiro, G.4
Lopes, L.5
Ribeiro, H.6
Pinto-Basto, J.7
Lima, M.R.8
Lacerda, L.9
-
18
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten, J.P., McElgunn, C.J., Waaijer, R., Zwijnenburg, D., Diepvens, F., Pals, G.: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30(12), e57 (2002)
-
(2002)
Nucleic Acids Res
, vol.30
, Issue.12
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
19
-
-
33751040150
-
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: Enzymatic activity, protein processing and structural analysis
-
Sukegawa-Hayasaka, K., Kato, Z., Nakamura, H., Tomatsu, S., Fukao, T., Kuwata, K., Orii, T., Kondo, N.: Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis. J. Inherit. Metab. Dis. 29(6), 755-761 (2006)
-
(2006)
J. Inherit. Metab. Dis
, vol.29
, Issue.6
, pp. 755-761
-
-
Sukegawa-Hayasaka, K.1
Kato, Z.2
Nakamura, H.3
Tomatsu, S.4
Fukao, T.5
Kuwata, K.6
Orii, T.7
Kondo, N.8
-
20
-
-
0037418741
-
Glucosaminylglycan biosynthesis: What we can learn from the X-ray crystal structures of glycosyltransferases GlcAT1 and EXTL2
-
Negishi, M., Dong, J., Darden, T.A., Pedersen, L.G., Pedersen, L.C.: Glucosaminylglycan biosynthesis: what we can learn from the X-ray crystal structures of glycosyltransferases GlcAT1 and EXTL2. Biochem. Biophys. Res. Commun. 303(2), 393-398 (2003)
-
(2003)
Biochem. Biophys. Res. Commun
, vol.303
, Issue.2
, pp. 393-398
-
-
Negishi, M.1
Dong, J.2
Darden, T.A.3
Pedersen, L.G.4
Pedersen, L.C.5
-
21
-
-
0034659994
-
Expression of five iduronate-2- sulfatase site-directed mutations
-
Villani, G.R., Daniele, A., Balzano, N., Di Natale, P.: Expression of five iduronate-2- sulfatase site-directed mutations. Biochim. Biophys. Acta 1501(2-3), 71-80 (2000)
-
(2000)
Biochim. Biophys. Acta
, vol.1501
, Issue.2-3
, pp. 71-80
-
-
Villani, G.R.1
Daniele, A.2
Balzano, N.3
Natale, D.P.4
-
22
-
-
84995899142
-
Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria
-
Gucev, Z.S., Tasic, V., Sinigerska, I., Kremensky, I., Tincheva, R., Pop-Jordanova, N., Danilovski, D., Hofer, D., Paschke, E.: Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria. Prilozi. 32(2), 187-198 (2011)
-
(2011)
Prilozi
, vol.32
, Issue.2
, pp. 187-198
-
-
Gucev, Z.S.1
Tasic, V.2
Sinigerska, I.3
Kremensky, I.4
Tincheva, R.5
Pop-Jordanova, N.6
Danilovski, D.7
Hofer, D.8
Paschke, E.9
-
23
-
-
77949322837
-
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C
-
Feldhammer, M., Durand, S., Pshezhetsky, A.V.: Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. PLoS One 4(10), e7434 (2009)
-
(2009)
PLoS One
, vol.4
, Issue.10
-
-
Feldhammer, M.1
Durand, S.2
Pshezhetsky, A.V.3
-
24
-
-
77951014824
-
Synthesis of lipophilic 1- deoxygalactonojirimycin derivatives as D-galactosidase inhibitors
-
Schitter, G., Scheucher, E., Steiner, A.J., Stutz, A.E., Thonhofer, M., Tarling, C.A., Withers, S.G., Wicki, J., Fantur, K., Paschke, E., et al.: Synthesis of lipophilic 1- deoxygalactonojirimycin derivatives as D-galactosidase inhibitors. Beilstein J. Org. Chem. 6, 21 (2010)
-
(2010)
Beilstein J. Org. Chem
, vol.6
, pp. 21
-
-
Schitter, G.1
Scheucher, E.2
Steiner, A.J.3
Stutz, A.E.4
Thonhofer, M.5
Tarling, C.A.6
Withers, S.G.7
Wicki, J.8
Fantur, K.9
Paschke, E.10
-
25
-
-
77953024738
-
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts
-
Fantur, K., Hofer, D., Schitter, G., Steiner, A.J., Pabst, B.M., Wrodnigg, T.M., Stutz, A.E., Paschke, E.: DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts. Mol. Genet. Metab. 100(3), 262-268 (2010).
-
(2010)
Mol. Genet. Metab
, vol.100
, Issue.3
, pp. 262-268
-
-
Fantur, K.1
Hofer, D.2
Schitter, G.3
Steiner, A.J.4
Pabst, B.M.5
Wrodnigg, T.M.6
Stutz, A.E.7
Paschke, E.8
|