Reference on EC 3.1.6.13 - iduronate-2-sulfatase
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Di Natale, P.; Ronsisvalle, L.
Identification and partial characterization of two enzyme forms of iduronate sulfatase from human placenta
Biochim. Biophys. Acta
661
106-111
1981
Homo sapiens
Yutaka, T.; Fluharty, A.L.; Stevens, R.L.; Kihara, H.
Purification and some properties of human liver iduronate sulfatase
J. Biochem.
91
433-441
1982
Homo sapiens
Wasteson, A.; Neufeld, E.F.
Iduronate sulfatase from human plasma
Methods Enzymol.
83
573-578
1982
Homo sapiens
Archer, I.M.; Harper, P.S.; Wusteman, F.S.
Multiple forms of iduronate 2-sulphate sulphatase in human tissues and body fluids
Biochim. Biophys. Acta
708
134-140
1982
Homo sapiens
Lissens, W.; Zenati, A.; Liebaers, I.
Polyclonal antibodies against iduronate 2-sulphate sulphatase from human urine
Biochim. Biophys. Acta
801
365-371
1984
Homo sapiens
Di Natale, P.; Daniele, A.
Iduronate sulfatase from human placenta
Biochim. Biophys. Acta
839
258-261
1985
Homo sapiens
Constantopoulos, G.; Rees, S.; Cragg, B.G.; Barranger, J.A.; Brady, R.O.
Experimental animal model for mucopolysaccharidosis: suramin-induced glycosaminoglycan and sphingolipid accumulation in the rat
Proc. Natl. Acad. Sci. USA
77
3700-3704
1980
BRENDA: Rattus norvegicus
Textmining: Rattus
Bach, G.; Eisenberg, F., Jr.; Cantz, M.; Neufeld, E.F.
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase
Proc. Natl. Acad. Sci. USA
70
2134-2138
1973
Homo sapiens
Sjoberg, I.; Fransson, L.A.; Matalon, R.; Dorfman, A.
Hunter's syndrome: a deficiency of L-idurono-sulfate sulfatase
Biochem. Biophys. Res. Commun.
54
1125-1132
1973
Homo sapiens
Bielicki, J.; Freeman, C.; Clements, P.R.; Hopwood, J.J.
Human liver iduronate-2-sulphatase. Purification, characterization and catalytic properties
Biochem. J.
271
75-86
1990
Homo sapiens
Bielicki, J.; Hopwood, J.J.; Wilson, P.J.; Anson, D.S.
Recombinant human iduronate-2-sulphatase: correction of mucopolysaccharidosis-type II fibroblasts and characterization of the purified enzyme
Biochem. J.
289
241-246
1993
Homo sapiens
Petruschka, L.; Zschiesche, M.; Bielicki, J.; Seidlitz, G.; Machill, G.; Hopwood, J.J.; Herrmann, F.H.
Mucopolysaccharidosis type II (Hunter syndrome): characterization of the iduronate-2-sulphatase in MPS II skin fibroblasts
J. Inherit. Metab. Dis.
17
89-92
1994
Homo sapiens
Millat, G.; Froissart, R.; Maire, I.; Bozon, D.
Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue
Biochem. J.
326
243-247
1997
Homo sapiens
Shaklee, P.N.; Glaser, J.H.; Conrad, H.E.
A sulfatase specific for glucuronic acid 2-sulfate residues in glycosaminoglycans
J. Biol. Chem.
260
9146-9149
1985
Homo sapiens
Coronado-Pons, I.; Novials, A.; Casas, S.; Clark, A.; Gomis, R.
Identification of iduronate-2-sulfatase (IDS) in mouse pancreatic islets
Am. J. Physiol.
10
1-33
2004
Mus musculus
-
Villani, G.R.; Daniele, A.; Balzano, N.; Di Natale, P.
Expression of five iduronate-2-sulfatase site-directed mutations
Biochim. Biophys. Acta
1501
71-80
2000
Homo sapiens
Bonuccelli, G.; Di Natale, P.; Corsolini, F.; Villani, G.; Regis, S.; Filocamo, M.
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II
Biochim. Biophys. Acta
1537
233-238
2001
Homo sapiens
Daniele, A.; Tomanin, R.; Villani, G.R.; Zacchello, F.; Scarpa, M.; Di Natale, P.
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro
Biochim. Biophys. Acta
1588
203-209
2002
Homo sapiens, Rattus norvegicus
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
449-450
2003
Homo sapiens
Pan, D.; Jonsson, J.J.; Braun, S.E.; McIvor, R.S.; Whitley, C.B.
"Supercharged Cells" for delivery of recombinant human iduronate-2-sulfatase
Mol. Genet. Metab.
70
170-178
2000
BRENDA: Homo sapiens
Textmining: Cucumber mosaic virus, Mus musculus
Parkinson, E.J.; Muller, V.; Hopwood, J.J.; Brooks, D.A.
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients
Mol. Genet. Metab.
81
58-64
2004
Homo sapiens
Parkinson-Lawrence, E.; Turner, C.; Hopwod, J.; Brooks, D.
Analysis of normal and mutant iduronate-2-sulphatase conformation
Biochem. J.
386
395-400
2005
Homo sapiens (P22304), Homo sapiens
Dean, C.J.; Bockmann, M.R.; Hopwood, J.J.; Brooks, D.A.; Meikle, P.J.
Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples
Clin. Chem.
52
643-649
2006
Homo sapiens
Bhattacharyya, S.; Tobacman, J.K.
Steroid sulfatase, arylsulfatases A and B, galactose-6-sulfatase, and iduronate sulfatase in mammary cells and effects of sulfated and non-sulfated estrogens on sulfatase activity
J. Steroid Biochem. Mol. Biol.
103
20-34
2007
Homo sapiens
Lin, S.P.; Chang, J.H.; Lee-Chen, G.J.; Lin, D.S.; Lin, H.Y.; Chuang, C.K.
Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers
Clin. Chim. Acta
369
29-34
2006
Homo sapiens
Chang, J.; Lin, S.; Chuang, C.; Lee-Chen, G.
Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II
Clin. Chim. Acta
384
167-170
2007
Homo sapiens
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
743-754
2006
Homo sapiens
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
755-761
2006
Homo sapiens
Lualdi, S.; Pittis, M.G.; Regis, S.; Parini, R.; Allegri, A.E.; Furlan, F.; Bembi, B.; Filocamo, M.
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts
J. Mol. Med.
84
692-700
2006
Homo sapiens
Friso, A.; Tomanin, R.; Zanetti, A.; Mennuni, C.; Calvaruso, F.; La Monica, N.; Marin, O.; Zacchello, F.; Scarpa, M.
Gene therapy of Hunter syndrome: evaluation of the efficiency of muscle electro gene transfer for the production and release of recombinant iduronate-2-sulfatase (IDS)
Biochim. Biophys. Acta
1782
574-580
2008
Mus musculus
Lau, K.C.; Lam, C.W.
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient
Clin. Chim. Acta
392
8-10
2008
Homo sapiens
Keeratichamroen, S.; Ketudat Cairns, J.R.; Wattanasirichaigoon, D.; Wasant, P.; Ngiwsara, L.; Suwannarat, P.; Pangkanon, S.; Kuptanon, J.; Tanpaiboon, P.; Rujirawat, T.; Liammongkolkul, S.; Svasti, J.
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome
J. Inherit. Metab. Dis.
Suppl. 2
303-311
2008
Homo sapiens (P22304), Homo sapiens
Cordoba-Ruiz, H.; Poutou-Pinales, R.; Echeverri-Pena, O.; Algecira-Enciso, N.; Landazuri, P.; Saenz, H.; Barrera-Avellaneda, L.
Laboratory scale production of the human recombinant iduronate 2-sulfate sulfatase-Like from Pichia pastoris
Afr. J. Biotechnol.
8
1786-1792
2009
Homo sapiens
-
Polito, V.A.; Cosma, M.P.
IDS crossing of the blood-brain barrier corrects CNS defects in MPSII mice
Am. J. Hum. Genet.
85
296-301
2009
BRENDA: Homo sapiens
Textmining: Mus sp., Mus musculus, Metazoa
Piquer, S.; Casas, S.; Quesada, I.; Nadal, A.; Julia, M.; Novials, A.; Gomis, R.
Role of iduronate-2-sulfatase in glucose-stimulated insulin secretion by activation of exocytosis
Am. J. Physiol. Endocrinol. Metab.
297
E793-E801
2009
Homo sapiens
Lu, J.Z.; Hui, E.K.; Boado, R.J.; Pardridge, W.M.
Genetic engineering of a bifunctional IgG fusion protein with iduronate-2-sulfatase
Bioconjug. Chem.
21
151-156
2010
BRENDA: Homo sapiens
Textmining: Equus caballus
Lualdi, S.; Tappino, B.; Di Duca, M.; Dardis, A.; Anderson, C.J.; Biassoni, R.; Thompson, P.W.; Corsolini, F.; Di Rocco, M.; Bembi, B.; Regis, S.; Cooper, D.N.; Filocamo, M.
Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome
Hum. Mutat.
31
E1261-E1285
2010
Homo sapiens
Jones, S.A.; Almassy, Z.; Beck, M.; Burt, K.; Clarke, J.T.; Giugliani, R.; Hendriksz, C.; Kroepfl, T.; Lavery, L.; Lin, S.P.; Malm, G.; Ramaswami, U.; Tincheva, R.; Wraith, J.E.; Wraith, J.E.
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
Homo sapiens
Schwartz, I.V.; Pinto, L.L.; Breda, G.; Lima, L.; Ribeiro, M.G.; Mota, J.G.; Acosta, A.X.; Correia, P.; Horovitz, D.D.; Porciuncula, C.G.; Lipinski-Figueiredo, E.; Fett-Conte, A.C.; Sobrinho, R.P.; Norato, D.Y.; Paula, A.C.; Kim, C.A.; Duarte, A.R.; Boy, R.; Leistner-Segal, S.; Burin, M.G.; Giugliani, R.
Clinical and biochemical studies in mucopolysaccharidosis type II carriers
J. Inherit. Metab. Dis.
32
732-738
2009
Homo sapiens
Moro, E.; Tomanin, R.; Friso, A.; Modena, N.; Tiso, N.; Scarpa, M.; Argenton, F.
A novel functional role of iduronate-2-sulfatase in zebrafish early development
Matrix Biol.
29
43-50
2010
BRENDA: Danio rerio (A0ST40), Danio rerio
Textmining: Homo sapiens
Araya, K.; Sakai, N.; Mohri, I.; Kagitani-Shimono, K.; Okinaga, T.; Hashii, Y.; Ohta, H.; Nakamichi, I.; Aozasa, K.; Taniike, M.; Ozono, K.
Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation
Mol. Genet. Metab.
98
255-263
2009
Homo sapiens
Okuyama, T.; Tanaka, A.; Suzuki, Y.; Ida, H.; Tanaka, T.; Cox, G.; Eto, Y.; Orii, T.
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)
Mol. Genet. Metab.
99
18-25
2010
Homo sapiens
Muenzer, J.; Beck, M.; Eng, C.M.; Escolar, M.L.; Giugliani, R.; Guffon, N.H.; Harmatz, P.; Kamin, W.; Kampmann, C.; Koseoglu, S.T.; Link, B.; Martin, R.A.; Molter, D.W.; Munoz Rojas, M.V.; Ogilvie, J.W.; Parini, R.; Ramaswami, U.; Scarpa, M.; Schwartz, I.V.; Wood, R.E.; Wraith, E.
Multidisciplinary management of Hunter syndrome
Pediatrics
124
e1228-e1239
2009
BRENDA: Homo sapiens
Textmining: Areas
Lu, J.Z.; Boado, R.J.; Hui, E.K.; Zhou, Q.H.; Pardridge, W.M.
Expression in CHO cells and pharmacokinetics and brain uptake in the Rhesus monkey of an IgG-iduronate-2-sulfatase fusion protein
Biotechnol. Bioeng.
108
1954-1964
2011
BRENDA: Homo sapiens
Textmining: Macaca mulatta, Equus caballus, Cricetulus griseus
Sosa, A.C.; Espejo, A.J.; Rodriguez, E.A.; Lizaraso, L.M.; Rojas, A.; Guevara, J.; Echeverri, O.Y.; Barrera, L.A.
Development of a sandwich enzyme linked immunosorbent assay (ELISA) for the quantification of iduronate-2-sulfate sulfatase
J. Immunol. Methods
368
64-70
2011
BRENDA: Homo sapiens
Textmining: Komagataella pastoris, Gallus gallus, Oryctolagus cuniculus
Yang, B.; Bhattacharyya, S.; Linhardt, R.; Tobacman, J.
Exposure to common food additive carrageenan leads to reduced sulfatase activity and increase in sulfated glycosaminoglycans in human epithelial cells
Biochimie
94
1309-1316
2012
Homo sapiens, Homo sapiens (P34059)
Morales-Alvarez, E.D.; Rivera-Hoyos, C.M.; Baena-Moncada, A.M.; Landazuri, P.; Poutou-Pinales, R.A.; Saenz-Suarez, H.; Barrera, L.A.; Echeverri-Pena, O.Y.
Low-scale expression and purification of an active putative iduronate 2-sulfate sulfatase-Like enzyme from Escherichia coli K12
J. Microbiol.
51
213-221
2013
BRENDA: Homo sapiens
Textmining: Escherichia coli K-12, Escherichia coli
Zuber, Z.; RodzynskaSwiatowska, A.; Jurecka, A.; Tylki-Szymanska, A.
The effect of recombinant human iduronate-2-sulfatase (idursulfase) on growth in young patients with mucopolysaccharidosis type II
PLoS ONE
9
e85074
2014
Homo sapiens
Pimentel, N.; Rodriguez-Lopez, A.; Diaz, S.; Losada, J.C.; Diaz-Rincon, D.J.; Cardona, C.; Espejo-Mojica, A.J.; Ramirez, A.M.; Ruiz, F.; Landazuri, P.; Poutou-Pinales, R.A.; Cordoba-Ruiz, H.A.; Almeciga-Diaz, C.J.; Barrera-Avellaneda, L.A.
Production and characterization of a human lysosomal recombinant iduronate-2-sulfatase produced in Pichia pastoris
Biotechnol. Appl. Biochem.
65
655-664
2018
BRENDA: Homo sapiens (P22304), Homo sapiens
Textmining: Komagataella pastoris
Lee, K.; Jun, S.H.; Song, S.H.; Park, H.D.; Park, K.U.; Song, J.
Direct assay of iduronate-2-sulfatase for Hunter disease using UPLC-tandem mass spectrometry and fluorogenic substrate
Clin. Biochem.
48
1350-1353
2015
Homo sapiens (P22304)
Mashima, R.; Ohira, M.; Okuyama, T.; Tatsumi, A.
Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry
Mol. Genet. Metab. Rep.
14
36-40
2018
Homo sapiens (P22304)
Demydchuk, M.; Hill, C.; Zhou, A.; Bunkoczi, G.; Stein, P.; Marchesan, D.; Deane, J.; Read, R.
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase
Nat. Commun.
8
15786
2017
Homo sapiens (P22304), Homo sapiens
Saito, S.; Ohno, K.; Okuyama, T.; Sakuraba, H.
Structural basis of mucopolysaccharidosis type II and construction of a database of mutant iduronate 2-sulfatases
PLoS ONE
11
e0163964
2016
Homo sapiens (P22304)
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
Homo sapiens
Alméciga-Díaz, CJ; Tolosa-Díaz, AD; Pimentel, LN; Bonilla, YA; Rodríguez-López, A; Espejo-Mojica, AJ; Patińo, JD; Sánchez, OF; Gonzalez-Santos, J
Anaerobic sulfatase maturase AslB from Escherichia coli activates human recombinant iduronate-2-sulfate sulfatase (IDS) and N-acetylgalactosamine-6-sulfate sulfatase (GALNS).
Gene
634
53-61
2017
Escherichia coli, Homo sapiens, Escherichia coli BL21(DE3)
Di Natale, P; Murino, P; Perfumo, A
[Preparation of iduronate sulfatase from the human placenta]
Boll Soc Ital Biol Sper
54
1587-91
1978
Homo sapiens, Dialysis
Eisenberg, LR; Migeon, BR
Enrichment of human heterokaryons by Ficoll gradient for complementation analysis of iduronate sulfatase deficiency.
Somatic Cell Genet
5
1079-89
1979
Homo sapiens
Bunge, S; Steglich, C; Beck, M; Rosenkranz, W; Schwinger, E; Hopwood, JJ; Gal, A
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).
Hum Mol Genet
1
335-9
1992
Homo sapiens
Palmieri, G; Capra, V; Romano, G; D'Urso, M; Johnson, S; Schlessinger, D; Morris, P; Hopwood, J; Di Natale, P; Gatti, R
The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome.
Genomics
12
52-7
1992
Homo sapiens, Saccharomyces cerevisiae
Wraith, JE; Cooper, A; Thornley, M; Wilson, PJ; Nelson, PV; Morris, CP; Hopwood, JJ
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).
Hum Genet
87
205-6
1991
Homo sapiens
Brown, FR; Hall, CW; Neufeld, EF; Munoz, LL; Braine, H; Andrzejewski, S; Camargo, EE; Mark, SA; Richard, JM; Moser, HW
Administration of iduronate sulfatase by plasma exchange to patients with the Hunter syndrome: a clinical study.
Am J Med Genet
13
309-18
1982
Homo sapiens
Li, P; Moore, JF; Thompson, JN
Novel use of limited primer extension in detecting mutations in human iduronate 2-sulfatase gene.
Biochem Mol Biol Int
35
1299-305
1995
Homo sapiens
Sukegawa, K; Tomatsu, S; Fukao, T; Iwata, H; Song, XQ; Yamada, Y; Fukuda, S; Isogai, K; Orii, T
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
Hum Mutat
6
136-43
1995
Homo sapiens
Li, P; Huffman, P; Thompson, JN
Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.
Hum Mutat
5
272-4
1995
Homo sapiens
Popowska, E; Rathmann, M; Tylki-Szymanska, A; Bunge, S; Steglich, C; Schwinger, E; Gal, A
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).
Hum Mutat
5
97-100
1995
Homo sapiens
SchrĂśder, W; Wulff, K; Wehnert, M; Seidlitz, G; Herrmann, FH
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
Hum Mutat
4
128-31
1994
Homo sapiens
Wilson, PJ; Meaney, CA; Hopwood, JJ; Morris, CP
Sequence of the human iduronate 2-sulfatase (IDS) gene.
Genomics
17
773-5
1993
Homo sapiens
Braun, SE; Aronovich, EL; Anderson, RA; Crotty, PL; McIvor, RS; Whitley, CB
Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase.
Proc Natl Acad Sci U S A
90
11830-4
1993
Homo sapiens
Bunge, S; Steglich, C; Zuther, C; Beck, M; Morris, CP; Schwinger, E; Schinzel, A; Hopwood, JJ; Gal, A
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
Hum Mol Genet
2
1871-5
1993
Homo sapiens
Daniele, A; Faust, CJ; Herman, GE; Di Natale, P; Ballabio, A
Cloning and characterization of the cDNA for the murine iduronate sulfatase gene.
Genomics
16
755-7
1993
Mus musculus, Homo sapiens
Daniele, A; Russo, T; Ballabio, A; Di Natale, P
The mouse iduronate sulfatase gene: identification of a novel transcript.
Biochem Biophys Res Commun
194
1030-7
1993
Mus musculus, Homo sapiens
Malmgren, H; Carlberg, BM; Pettersson, U; Bondeson, ML
Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene.
Genomics
29
291-3
1995
Homo sapiens
Timms, KM; Lu, F; Shen, Y; Pierson, CA; Muzny, DM; Gu, Y; Nelson, DL; Gibbs, RA
130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus.
Genome Res
5
71-8
1995
Homo sapiens
Sukegawa, K; Song, XQ; Masuno, M; Fukao, T; Shimozawa, N; Fukuda, S; Isogai, K; Nishio, H; Matsuo, M; Tomatsu, S; Kondo, N; Orii, T
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.
Hum Mutat
10
361-7
1997
Homo sapiens
Maddox, LO; Li, P; Bennett, A; Descartes, M; Thompson, JN
Comparison of SSCP analysis and CFLP analysis for mutation detection in the human iduronate 2-sulfatase gene.
Biochem Mol Biol Int
43
1163-71
1997
Homo sapiens, insertion sequences
Gort, L; Coll, MJ; ChabĂĄs, A
Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.
Hum Mutat
Suppl 1
S66-8
1998
Homo sapiens
Isogai, K; Sukegawa, K; Tomatsu, S; Fukao, T; Song, XQ; Yamada, Y; Fukuda, S; Orii, T; Kondo, N
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
J Inherit Metab Dis
21
60-70
1998
Homo sapiens
Froissart, R; Maire, I; Millat, G; Cudry, S; Birot, AM; Bonnet, V; Bouton, O; Bozon, D
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.
Clin Genet
53
362-8
1998
Homo sapiens
Karsten, S; Voskoboeva, E; Tishkanina, S; Pettersson, U; Krasnopolskaja, X; Bondeson, ML
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.
Hum Genet
103
732-5
1998
Homo sapiens
Li, P; Bellows, AB; Thompson, JN
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
J Med Genet
36
21-7
1999
Homo sapiens, insertion sequences
Hartog, C; Fryer, A; Upadhyaya, M
Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online.
Hum Mutat
14
87
1999
Homo sapiens
Filocamo, M; Bonuccelli, G; Corsolini, F; Mazzotti, R; Cusano, R; Gatti, R
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
Hum Mutat
18
164-5
2001
Homo sapiens
Liu, S; Li, L; Fu, J; Zhong, C; Lu, G
[The detection of the frequent mutations of iduronate-2-sulphatase gene in mucopolysaccharidosis type II patients in Chinese]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
19
243-5
2002
Homo sapiens
Tomatsu, S; Orii, KO; Bi, Y; Gutierrez, MA; Nishioka, T; Yamaguchi, S; Kondo, N; Orii, T; Noguchi, A; Sly, WS
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.
Hum Mutat
23
590-8
2004
Homo sapiens
Coronado-Pons, I; Novials, A; Casas, S; Clark, A; Gomis, R
Identification of iduronate-2-sulfatase in mouse pancreatic islets.
Am J Physiol Endocrinol Metab
287
E983-90
2004
Mus musculus
Lualdi, S; Regis, S; Di Rocco, M; Corsolini, F; Stroppiano, M; Antuzzi, D; Filocamo, M
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.
Hum Mutat
25
491-7
2005
Homo sapiens
Dou, W; Peng, C; Zheng, JK; Gu, XF
[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II]
Yi Chuan
29
37-40
2007
Homo sapiens, insertion sequences
Garcia, AR; DaCosta, JM; Pan, J; Muenzer, J; Lamsa, JC
Preclinical dose ranging studies for enzyme replacement therapy with idursulfase in a knock-out mouse model of MPS II.
Mol Genet Metab
91
183-90
2007
Mus musculus, Homo sapiens, Mus sp.
Wraith, JE
Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II.
Acta Paediatr
97
76-8
2008
Homo sapiens
GalĂĄn-GĂłmez, E; Guerrero-Rico, A; CĂĄceres-Marzal, C; Zambrano-CastaĂąo, M; Moreno-Tejero, ML; Grande-Tejada, AM; FernĂĄndez-HernĂĄndez, S; Vaquerizo-Madrid, J; Cardesa-GarcĂa, JJ
Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome.
Eur J Med Genet
51
268-71
0
Homo sapiens
Bagewadi, S; Roberts, J; Mercer, J; Jones, S; Stephenson, J; Wraith, JE
Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively.
J Inherit Metab Dis
31
733-7
2008
Homo sapiens
Manara, R; Rampazzo, A; Cananzi, M; Salviati, L; Mardari, R; Drigo, P; Tomanin, R; Gasparotto, N; Priante, E; Scarpa, M
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.
J Inherit Metab Dis
2010
Homo sapiens
Alcalde-Martín, C; Muro-Tudelilla, JM; Cancho-Candela, R; Gutiérrez-Solana, LG; Pintos-Morell, G; Martí-Herrero, M; Munguira-Aguado, P; Galán-Gómez, E
First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS).
Eur J Med Genet
2010
Homo sapiens
Muenzer, J; Beck, M; Giugliani, R; Suzuki, Y; Tylki-Szymanska, A; Valayannopoulos, V; Vellodi, A; Wraith, JE
Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey.
Genet Med
13
102-9
2011
Homo sapiens
Lee, JH; Choe, YH; Kim, SJ; Paik, KH; Jin, DK
Changes in glycogen and glycosaminoglycan levels in hepatocytes of iduronate-2-sulfatase knockout mice before and after recombinant iduronate-2-sulfatase supplementation.
Yonsei Med J
52
263-7
2011
Mus sp., Homo sapiens
Burton, BK; Whiteman, DA; ,
Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective from the Hunter Outcome Survey (HOS).
Mol Genet Metab
2011
Homo sapiens
Calias, P; Papisov, M; Pan, J; Savioli, N; Belov, V; Huang, Y; Lotterhand, J; Alessandrini, M; Liu, N; Fischman, AJ; Powell, JL; Heartlein, MW
CNS penetration of intrathecal-lumbar idursulfase in the monkey, dog and mouse: implications for neurological outcomes of lysosomal storage disorder.
PLoS One
7
e30341
2012
Platyrrhini, Canis lupus familiaris, Mus musculus, Primates, Mus sp., Metazoa
Lee, OJ; Kim, SJ; Sohn, YB; Park, HD; Lee, SY; Kim, CH; Ko, AR; Yook, YJ; Lee, SJ; Park, SW; Kim, SH; Cho, SY; Kwon, EK; Han, SJ; Jin, DK
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients.
Korean J Pediatr
55
88-92
2012
Homo sapiens
Charoenwattanasatien, R; Cairns, JR; Keeratichamroen, S; Sawangareetrakul, P; Tanpaiboon, P; Wattanasirichaigoon, D; Pangkanon, S; Svasti, J; Champattanachai, V
Decreasing Activity and Altered Protein Processing of Human Iduronate-2-sulfatase Mutations Demonstrated by Expression in COS7 Cells.
Biochem Genet
2012
Homo sapiens
Sohn, YB; Cho, SY; Park, SW; Kim, SJ; Ko, AR; Kwon, EK; Han, SJ; Jin, DK
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome).
Orphanet J Rare Dis
8
42
2013
Homo sapiens
Jones, SA; Parini, R; Harmatz, P; Giugliani, R; Fang, J; Mendelsohn, NJ; ,
The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).
Mol Genet Metab
2013
Homo sapiens
Kim, J; Park, MR; Kim, DS; Lee, JO; Maeng, SH; Cho, SY; Han, Y; Ahn, K; Jin, DK
IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome.
Allergy
68
796-802
2013
Homo sapiens
Brusius-Facchin, AC; Abrahăo, L; Schwartz, IV; Lourenço, CM; Santos, ES; Zanetti, A; Tomanin, R; Scarpa, M; Giugliani, R; Leistner-Segal, S
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
Gene
526
150-4
2013
Homo sapiens
Barbier, AJ; Bielefeld, B; Whiteman, DA; Natarajan, M; Pano, A; Amato, DA
The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5years and older treated with intravenous idursulfase.
Mol Genet Metab
2013
Homo sapiens
Mazzoccoli, G; Tomanin, R; Mazza, T; D Avanzo, F; Salvalaio, M; Rigon, L; Zanetti, A; Pazienza, V; Francavilla, M; Giuliani, F; Vinciguerra, M; Scarpa, M
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.
BMC Med Genomics
6
37
2013
Homo sapiens
Giugliani, R; Hwu, WL; Tylki-Szymanska, A; Whiteman, DA; Pano, A
A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy.
Genet Med
2013
Homo sapiens
Chistiakov, DA; Kuzenkova, LM; Savost'anov, KV; Gevorkyan, AK; Pushkov, AA; Nikitin, AG; Vashakmadze, ND; Zhurkova, NV; Podkletnova, TV; Namazova-Baranova, LS; Baranov, AA
Genetic analysis of 17 children with hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
J Genet Genomics
41
197-203
2014
Homo sapiens, Human gammaherpesvirus 4
Sohn, YB; Cho, SY; Lee, J; Kwun, Y; Huh, R; Jin, DK
Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.
Mol Genet Metab
114
156-60
2015
Homo sapiens
Alegra, T; Eizerik, DP; de Cerqueira, CC; Pereira, TV; Dornelles, AD; Schwartz, IV
[Efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II with and without comparison to placebo: systematic review and meta-analysis].
Cad Saude Publica
29 Suppl 1
S45-58
2013
Homo sapiens, Syringa
Pano, A; Barbier, AJ; Bielefeld, B; Whiteman, DA; Amato, DA
Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome).
Orphanet J Rare Dis
10
50
2015
Homo sapiens
Chung, JK; Brown, E; Crooker, B; Palmieri, KJ; McCauley, TG
Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration.
PLoS One
11
e0164765
2016
Macaca fascicularis, Platyrrhini, Homo sapiens
Giugliani, R; Harmatz, P; Jones, SA; Mendelsohn, NJ; Vellodi, A; Qiu, Y; Hendriksz, CJ; Vijayaraghavan, S; Whiteman, DA; Pano, A
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients.
Mol Genet Metab Rep
12
2-7
2017
Homo sapiens
Laoharawee, K; Podetz-Pedersen, KM; Nguyen, TT; Evenstar, LB; Kitto, KF; Nan, Z; Fairbanks, CA; Low, WC; Kozarsky, KF; McIvor, RS
Prevention of Neurocognitive Deficiency in Mucopolysaccharidosis Type II Mice by Central Nervous System-Directed, AAV9-Mediated Iduronate Sulfatase Gene Transfer.
Hum Gene Ther
28
626-638
2017
Mus sp.
Pérez-López, J; Moltó-Abad, M; Muńoz-Delgado, C; Morales-Conejo, M; Ceberio-Hualde, L; Del Toro, M
Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.
Mol Genet Metab
124
216-227
2018
Homo sapiens
Hordeaux, J; Hinderer, C; Goode, T; Buza, EL; Bell, P; Calcedo, R; Richman, LK; Wilson, JM
Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Iduronate-2-Sulfatase in Rhesus Macaques.
Mol Ther Methods Clin Dev
10
68-78
2018
Macaca mulatta, Adeno-associated virus 9, Primates, Homo sapiens
Diaz Jacques, CE; de Souza, HM; Sperotto, NDM; Veríssimo, RM; da Rosa, HT; Moura, DJ; Saffi, J; Giugliani, R; Vargas, CR
Hunter syndrome: Long-term idursulfase treatment does not protect patients against DNA oxidation and cytogenetic damage.
Mutat Res
835
21-24
2018
Homo sapiens
Cardona, C; Benincore, E; Pimentel, N; Reyes, LH; Patarroyo, C; Rodríguez-López, A; Martin-Rufian, M; Barrera, LA; Alméciga-Díaz, CJ
Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain.
Heliyon
5
e01667
2019
Mus musculus
Sampayo-Cordero, M; Miguel-Huguet, B; Pardo-Mateos, A; Malfettone, A; Pérez-García, J; Llombart-Cussac, A; Cortés, J; Moltó-Abad, M; Muńoz-Delgado, C; Pérez-Quintana, M; Pérez-López, J
Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases.
Orphanet J Rare Dis
14
230
2019
Homo sapiens
Hogan, MJ; Stephens, K; Smith, E; Jalazo, ER; Hendriksz, CJ; Edwards, LJ; Bjoraker, KJ
Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase.
Mol Genet Metab Rep
25
100669
2020
Homo sapiens
Tomatsu, S; Fukuda, S; Masue, M; Sukegawa, K; Fukao, T; Yamagishi, A; Hori, T; Iwata, H; Ogawa, T; Nakashima, Y
Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.
Biochem Biophys Res Commun
181
677-83
1991
Homo sapiens, Echinoidea
Sorrentino, NC; D'Orsi, L; Sambri, I; Nusco, E; Monaco, C; Spampanato, C; Polishchuk, E; Saccone, P; De Leonibus, E; Ballabio, A; Fraldi, A
A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.
EMBO Mol Med
5
675-90
2013
Mus sp.
Lancaster, J; Khrimian, A; Young, S; Lehner, B; Luck, K; Wallingford, A; Ghosh, SKB; Zerbe, P; Muchlinski, A; Marek, PE; Sparks, ME; Tokuhisa, JG; Tittiger, C; Köllner, TG; Weber, DC; Gundersen-Rindal, DE; Kuhar, TP; Tholl, D
De novo formation of an aggregation pheromone precursor by an isoprenyl diphosphate synthase-related terpene synthase in the harlequin bug.
Proc Natl Acad Sci U S A
115
E8634-E8641
2018
Hemiptera, Murgantia histrionica
Clarke, JT; Willard, HF; Teshima, I; Chang, PL; Skomorowski, MA
Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl.
Clin Genet
37
355-62
1990
Homo sapiens
Clarke, JT; Greer, WL; Strasberg, PM; Pearce, RD; Skomorowski, MA; Ray, PN
Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.
Am J Hum Genet
49
289-97
1991
Homo sapiens, Chordomyces antarcticum
Steglich, C; Bunge, S; Hulsebos, T; Beck, M; Brandt, NJ; Schwinger, E; Hopwood, JJ; Gal, A
Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene.
Hum Genet
92
179-82
1993
Homo sapiens
Yamada, Y; Tomatsu, S; Sukegawa, K; Suzuki, Y; Kondo, N; Hopwood, JJ; Orii, T
Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families.
Hum Genet
92
110-4
1993
Homo sapiens
Kato, T; Kato, Z; Kuratsubo, I; Tanaka, N; Ishigami, T; Kajihara, J; Sukegawa-Hayasaka, K; Orii, K; Isogai, K; Fukao, T; Shimozawa, N; Orii, T; Kondo, N; Suzuki, Y
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II.
J Hum Genet
50
395-402
2005
Homo sapiens
Fuller, M; Tucker, JN; Lang, DL; Dean, CJ; Fietz, MJ; Meikle, PJ; Hopwood, JJ
Screening patients referred to a metabolic clinic for lysosomal storage disorders.
J Med Genet
2011
Homo sapiens
SteĂŠn-Bondeson, ML; Dahl, N; TĂśnnesen, T; Kleijer, WJ; Seidlitz, G; Gustavson, KH; Wilson, PJ; Morris, CP; Hopwood, JJ; Pettersson, U
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene.
Hum Mol Genet
1
195-8
1992
Homo sapiens
Annella, T; Daniele, A; Di Natale, P
Heterogeneity of DNA and RNA in Hunter patients.
Hum Genet
92
350-2
1993
Homo sapiens
Villani, GR; Balzano, N; Grosso, M; Di Natale, P
[Mutation analysis in Hunter patients]
Pediatr Med Chir
18
71-83
0
Homo sapiens
Timms, KM; Bondeson, ML; Ansari-Lari, MA; Lagerstedt, K; Muzny, DM; Dugan-Rocha, SP; Nelson, DL; Pettersson, U; Gibbs, RA
Molecular and phenotypic variation in patients with severe Hunter syndrome.
Hum Mol Genet
6
479-86
1997
Homo sapiens
Wilkerson, MJ; Lewis, DC; Marks, SL; Prieur, DJ
Clinical and morphologic features of mucopolysaccharidosis type II in a dog: naturally occurring model of Hunter syndrome.
Vet Pathol
35
230-3
1998
Canis lupus familiaris
Pan, D; Shankar, R; Stroncek, DF; Whitley, CB
Combined ultrafiltration-transduction in a hollow-fiber bioreactor facilitates retrovirus-mediated gene transfer into peripheral blood lymphocytes from patients with mucopolysaccharidosis type II.
Hum Gene Ther
10
2799-810
1999
Homo sapiens
Karsten, SL; Voskoboeva, E; Carlberg, BM; Kleijer, WJ; Tsnnesen, T; Pettersson, U; Bondeson, ML
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.
Hum Mutat
12
433
1998
Homo sapiens
Mortazavi, Y; Chopra, R; Gordon-Smith, EC; Rutherford, TR
Clonal patterns of X-chromosome inactivation in female patients with aplastic anaemia studies using a novel reverse transcription polymerase chain reaction method.
Eur J Haematol
64
385-95
2000
Homo sapiens
Haskins, M; Casal, M; Ellinwood, NM; Melniczek, J; Mazrier, H; Giger, U
Animal models for mucopolysaccharidoses and their clinical relevance.
Acta Paediatr Suppl
91
88-97
2002
Homo sapiens
Cardone, M; Polito, VA; Pepe, S; Mann, L; D'Azzo, A; Auricchio, A; Ballabio, A; Cosma, MP
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.
Hum Mol Genet
15
1225-36
2006
Mus musculus, Homo sapiens, Mus sp.
Little, C; Gould, R; Hendriksz, C
The management of children with Hunter syndrome - a case study.
Br J Nurs
18
321-2
0
Homo sapiens
Friso, A; Tomanin, R; Salvalaio, M; Scarpa, M
Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II.
Br J Pharmacol
159
1082-91
2010
Mus sp., Mus musculus, Rattus, Metazoa
Jung, SC; Park, ES; Choi, EN; Kim, CH; Kim, SJ; Jin, DK
Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy.
Mol Cells
30
13-8
2010
Adeno-associated virus, Homo sapiens, Mus musculus, Mus sp.
Polito, VA; Abbondante, S; Polishchuk, RS; Nusco, E; Salvia, R; Cosma, MP
Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy.
Hum Mol Genet
2010
Mus musculus, Homo sapiens, Mus sp.
Schulze-Frenking, G; Jones, SA; Roberts, J; Beck, M; Wraith, JE
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II.
J Inherit Metab Dis
2010
Homo sapiens
Sohn, YB; Ki, CS; Kim, CH; Ko, AR; Yook, YJ; Lee, SJ; Kim, SJ; Park, SW; Yeau, S; Kwon, EK; Han, SJ; Choi, EW; Lee, SY; Kim, JW; Jin, DK
Identification of 11 novel mutations in 49 Korean patients with Mucopolysaccharidosis Type II.
Clin Genet
2011
Homo sapiens, insertion sequences
Filippon, L; Vanzin, CS; Biancini, GB; Pereira, IN; Manfredini, V; Sitta, A; Peralba, MD; Schwartz, IV; Giugliani, R; Vargas, CR
Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy.
Mol Genet Metab
2011
Homo sapiens
Felice, BR; Wright, TL; Boyd, RB; Butt, MT; Pfeifer, RW; Pan, J; Ruiz, JA; Heartlein, MW; Calias, P
Safety Evaluation of Chronic Intrathecal Administration of Idursulfase-IT in Cynomolgus Monkeys.
Toxicol Pathol
39
879-92
2011
Macaca fascicularis, Homo sapiens, animal
Clarke, LA; Hemmelgarn, H; Colobong, K; Thomas, A; Stockler, S; Casey, R; Chan, A; Fernoff, P; Mitchell, J
Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients.
J Inherit Metab Dis
2011
Homo sapiens
Gucev, ZS; 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
187-98
2011
Bulgaria, Homo sapiens
Brusius-Facchin, AC; De Souza, CF; Schwartz, IV; Riegel, M; Melaragno, MI; Correia, P; Moraes, LM; Llerena, J; Giugliani, R; Leistner-Segal, S
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.
Am J Med Genet A
158A
1055-9
2012
Homo sapiens
Higuchi, T; Shimizu, H; Fukuda, T; Kawagoe, S; Matsumoto, J; Shimada, Y; Kobayashi, H; Ida, H; Ohashi, T; Morimoto, H; Hirato, T; Nishino, K; Eto, Y
Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II.
Mol Genet Metab
107
122-8
2012
Mus musculus, Mus sp.
Zhou, QH; Boado, RJ; Pardridge, WM
Selective plasma pharmacokinetics and brain uptake in the mouse of enzyme fusion proteins derived from species-specific receptor-targeted antibodies.
J Drug Target
20
715-9
2012
Homo sapiens, Mus musculus
Hong, SH; Chu, H; Kim, KR; Ko, MH; Kwon, SY; Moon, IJ; Chung, WH; Cho, YS; Kim, CH; Suh, MW; Choi, EW; Sohn, YB; Park, SW; Kim, SH; Cho, SY; Ko, AR; Jin, DK
Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II.
Am J Med Genet A
158A
2131-8
2012
Mus musculus, Mus sp., Electron
Sohn, YB; Lee, J; Cho, SY; Kim, SJ; Ko, AR; Nam, MH; Jin, DK
Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.
Am J Med Genet A
2013
Mus sp., Homo sapiens
Ahn, SY; Chang, YS; Sung, DK; Ko, AR; Kim, CH; Yoo, DK; Lim, KH; Sohn, YB; Jin, DK; Park, WS
High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.
J Hum Genet
2013
Homo sapiens
Ceravolo, F; Mascaro, I; Sestito, S; Pascale, E; Lauricella, A; Dizione, E; Concolino, D
Home treatment in paediatric patients with Hunter syndrome: the first Italian experience.
Ital J Pediatr
39
53
2013
Homo sapiens
Annibali, R; Caponi, L; Morganti, A; Manna, M; Gabrielli, O; Ficcadenti, A
Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation.
Minerva Pediatr
65
487-96
2013
Homo sapiens
Boado, RJ; Hui, EK; Lu, JZ; Sumbria, RK; Pardridge, WM
Blood-Brain Barrier Molecular Trojan Horse Enables Imaging of Brain Uptake of Radioiodinated Recombinant Protein in the Rhesus Monkey.
Bioconjug Chem
2013
Equidae, Equus caballus, Homo sapiens, Macaca mulatta
Brusius-Facchin, AC; Schwartz, IV; Zimmer, C; Ribeiro, MG; Acosta, AX; Horovitz, D; Monlleó, IL; Fontes, MI; Fett-Conte, A; Sobrinho, RP; Duarte, AR; Boy, R; Mabe, P; Ascurra, M; de Michelena, M; Tylee, KL; Besley, GT; Garreton, MC; Giugliani, R; Leistner-Segal, S
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Mol Genet Metab
111
133-8
2014
Homo sapiens
Lampe, C; Atherton, A; Burton, BK; Descartes, M; Giugliani, R; Horovitz, DD; Kyosen, SO; Magalhăes, TS; Martins, AM; Mendelsohn, NJ; Muenzer, J; Smith, LD
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.
JIMD Rep
2014
Homo sapiens
Cho, SY; Huh, R; Chang, MS; Lee, J; Kwun, Y; Maeng, SH; Kim, SJ; Sohn, YB; Park, SW; Kwon, EK; Han, SJ; Jung, J; Jin, DK
Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).
J Korean Med Sci
29
254-60
2014
Homo sapiens
Lee, SC; Lee, J; Jin, DK; Kim, JS; Jeon, ES; Kwun, YH; Chang, MS; Ko, AR; Yook, YJ; Sohn, YB
Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis.
Mol Genet Metab
112
218-23
2014
Homo sapiens, Mus sp., Mus musculus
Tomanin, R; Zanetti, A; D'Avanzo, F; Rampazzo, A; Gasparotto, N; Parini, R; Pascarella, A; Concolino, D; Procopio, E; Fiumara, A; Borgo, A; Frigo, AC; Scarpa, M
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.
Orphanet J Rare Dis
9
129
2014
Homo sapiens
Cho, SY; Sohn, YB; Jin, DK
An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network.
Intractable Rare Dis Res
3
79-86
2014
Homo sapiens, animal
Yokoi, K; Akiyama, K; Kaneshiro, E; Higuchi, T; Shimada, Y; Kobayashi, H; Akiyama, M; Otsu, M; Nakauchi, H; Ohashi, T; Ida, H
Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II.
J Inherit Metab Dis
38
333-40
2015
Mus musculus, Homo sapiens
?uber, Z; Jurecka, A; Jurkiewicz, E; Kie?-Wilk, B; Tylki-Szyma?ska, A
Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II.
Pediatr Neurosurg
2015
Homo sapiens, Stenosis
Wakabayashi, T; Shimada, Y; Akiyama, K; Higuchi, T; Fukuda, T; Kobayashi, H; Eto, Y; Ida, H; Ohhashi, T
Hematopoietic stem cell gene therapy corrects the neuropathic phenotype in murine model of mucopolysaccharidosis type II.
Hum Gene Ther
2015
Mus musculus, Mus sp.
Muenzer, J; Hendriksz, CJ; Fan, Z; Vijayaraghavan, S; Perry, V; Santra, S; Solanki, GA; Mascelli, MA; Pan, L; Wang, N; Sciarappa, K; Barbier, AJ
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II.
Genet Med
18
73-81
2016
Homo sapiens
Xie, H; Chung, JK; Mascelli, MA; McCauley, TG
Pharmacokinetics and bioavailability of a therapeutic enzyme (idursulfase) in cynomolgus monkeys after intrathecal and intravenous administration.
PLoS One
10
e0122453
2015
Macaca fascicularis, Platyrrhini
Guffon, N; Heron, B; Chabrol, B; Feillet, F; Montauban, V; Valayannopoulos, V
Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study.
Orphanet J Rare Dis
10
43
2015
Homo sapiens
Shimada, Y; Wakabayashi, T; Akiyama, K; Hoshina, H; Higuchi, T; Kobayashi, H; Eto, Y; Ida, H; Ohashi, T
A method for measuring disease-specific iduronic acid from the non-reducing end of glycosaminoglycan in mucopolysaccharidosis type II mice.
Mol Genet Metab
117
140-3
2016
Mus sp., Homo sapiens
Dalmau Serra, J; Vitoria Mińana, I; Calderón Fernández, R; Cortell Aznar, I
Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome.
Med Clin (Barc)
145
392-8
2015
Homo sapiens
Cho, SY; Lee, J; Ko, AR; Kwak, MJ; Kim, S; Sohn, YB; Park, SW; Jin, DK
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.
Orphanet J Rare Dis
10
141
2015
Mus musculus, Mus sp.
Alcántara-Ortigoza, MA; García-de Teresa, B; González-Del Angel, A; Berumen, J; Guardado-Estrada, M; Fernández-Hernández, L; Navarrete-Martínez Juana, I; Maza-Morales, M; Rius-Domínguez, R
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.
Clin Genet
2016
Homo sapiens, Purpura
Alkhzouz, C; Lazea, C; Bucerzan, S; Nascu, I; Kiss, E; Denes, CL; Grigorescu-Sido, P
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.
JIMD Rep
2016
Homo sapiens
Chiong, MA; Canson, DM; Abacan, MA; Baluyot, MM; Cordero, CP; Silao, CL
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.
Orphanet J Rare Dis
12
7
2017
Homo sapiens, insertion sequences
Burton, BK; Jego, V; Mikl, J; Jones, SA
Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS).
J Inherit Metab Dis
2017
Homo sapiens
Muenzer, J; Giugliani, R; Scarpa, M; Tylki-Szyma?ska, A; Jego, V; Beck, M
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).
Orphanet J Rare Dis
12
161
2017
Homo sapiens, Frog erythrocytic virus
Bellesso, S; Salvalaio, M; Lualdi, S; Tognon, E; Costa, R; Braghetta, P; Giraudo, C; Stramare, R; Rigon, L; Filocamo, M; Tomanin, R; Moro, E
FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).
Hum Mol Genet
27
2262-2275
2018
animal, Danio rerio
Lin, HY; Chuang, CK; Chen, MR; Lin, SJ; Chiu, PC; Niu, DM; Tsai, FJ; Hwu, WL; Chien, YH; Lin, JL; Lin, SP
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS).
Orphanet J Rare Dis
13
89
2018
Homo sapiens
Fu, H; Zaraspe, K; Murakami, N; Meadows, AS; Pineda, RJ; McCarty, DM; Muenzer, J
Targeting Root Cause by Systemic scAAV9-hIDS Gene Delivery: Functional Correction and Reversal of Severe MPS II in Mice.
Mol Ther Methods Clin Dev
10
327-340
2018
Homo sapiens, Mus musculus
Zhang, W; Xie, T; Sheng, H; Shao, Y; Lin, Y; Jiang, M; Xu, A; Su, X; Liu, Z; Zhao, X; Liu, L; Huang, Y
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
Clin Chim Acta
491
114-120
2019
Homo sapiens
Menkovic, I; Lavoie, P; Boutin, M; Auray-Blais, C
Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS/MS.
Bioanalysis
11
727-740
2019
Homo sapiens
Wei, G; Eberl, F; Chen, X; Zhang, C; Unsicker, SB; Köllner, TG; Gershenzon, J; Chen, F
Evolution of isoprenyl diphosphate synthase-like terpene synthases in fungi.
Sci Rep
10
14944
2020
Fungi
Wada, M; Shimada, Y; Iizuka, S; Ishii, N; Hiraki, H; Tachibana, T; Maeda, K; Saito, M; Arakawa, S; Ishimoto, T; Nakano, T; Ida, H; Ohashi, T; Kobayashi, H
Ex Vivo Gene Therapy Treats Bone Complications of Mucopolysaccharidosis Type II Mouse Models through Bone Remodeling Reactivation.
Mol Ther Methods Clin Dev
19
261-274
2020
Mus sp.
Jezela-Stanek, A; Pokora, P; M?ynek, M; Smyk, M; Ziemkiewicz, K; Ró?d?y?ska-?wi?tkowska, A; Tylki-Szyma?ska, A
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
Clin Dysmorphol
30
76-82
2021
Homo sapiens
Bustamante, LL; Garavaglia, L; Garramone, EI; Amartino, H; Parisi, CA
[Idursulfase desensitization in a child with Hunter syndrome (mucopolysaccharidosis II)].
Arch Argent Pediatr
119
e41-e44
2021
Homo sapiens
Morimoto, H; Kida, S; Yoden, E; Kinoshita, M; Tanaka, N; Yamamoto, R; Koshimura, Y; Takagi, H; Takahashi, K; Hirato, T; Minami, K; Sonoda, H
Clearance of heparan sulfate in the brain prevents neurodegeneration and neurocognitive impairment in MPS II mice.
Mol Ther
2021
Mus sp.
Semyachkina, AN; Voskoboeva, EY; Nikolaeva, EA; Zakharova, EY
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).
BMC Med Genomics
14
71
2021
Homo sapiens
Seo, JH; Kosuga, M; Hamazaki, T; Shintaku, H; Okuyama, T
Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II.
Mol Ther Methods Clin Dev
21
67-75
2021
Homo sapiens
Pagant, S; Huston, MW; Moreira, L; Gan, L; St Martin, S; Sproul, S; Holmes, MC; Meyer, K; Wechsler, T; Desnick, RJ; Yasuda, M
ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic ?-Gal A activity and effective substrate reduction in Fabry mice.
Mol Ther
2021
Homo sapiens
Tan, HL; Abd Rahman, R; Md Tarekh, NA; Kassim, M; Sathiamurthy, N; Nik Mohamad Kamil, A; Ngu, LH
Severe central airway stenosis and tracheomalacia in hunter syndrome.
Med J Malaysia
76
441-445
2021
Stenosis
Racoma, MJC; Calibag, MKKB; Cordero, CP; Abacan, MAR; Chiong, MAD
A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry.
Orphanet J Rare Dis
16
323
2021
Homo sapiens
Hopwood, JJ
alpha-L-iduronidase, beta-D-glucuronidase, and 2-sulfo-L-iduronate 2-sulfatase: preparation and characterization of radioactive substrates from heparin.
Carbohydr Res
69
203-16
1979
Homo sapiens
Steckel, F; Hasilik, A; von Figura, K
Synthesis and stability of arylsulfatase A and B in fibroblasts from multiple sulfatase deficiency.
Eur J Biochem
151
141-5
1985
Homo sapiens
Yutaka, T; Fluharty, AL; Stevens, RL; Kihara, H
Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.
Am J Hum Genet
30
575-82
1978
Homo sapiens
Neufeld, EF; Liebaers, I; Epstein, CJ; Yatziv, S; Milunsky, A; Migeon, BR
The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?
Am J Hum Genet
29
455-61
1977
Homo sapiens
Liebaers, I; Neufeld, E
Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.
Pediatr Res
10
733-6
1976
Homo sapiens
Crotty, PL; Whitley, CB
Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).
Hum Genet
90
285-8
1992
Homo sapiens
Wilson, PJ; Morris, CP; Anson, DS; Occhiodoro, T; Bielicki, J; Clements, PR; Hopwood, JJ
Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.
Proc Natl Acad Sci U S A
87
8531-5
1990
Echinoidea, Homo sapiens
Daniele, A; Di Natale, P
Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase.
Hum Genet
75
234-8
1987
Homo sapiens, Oryctolagus cuniculus
Daniele, A; Di Natale, P
Expression of the two iduronate-2-sulfatase cDNAs.
Biochem Mol Biol Int
36
311-7
1995
Homo sapiens, Mus musculus
Jonsson, JJ; Aronovich, EL; Braun, SE; Whitley, CB
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.
Am J Hum Genet
56
597-607
1995
Homo sapiens
Hopwood, JJ; Bunge, S; Morris, CP; Wilson, PJ; Steglich, C; Beck, M; Schwinger, E; Gal, A
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Hum Mutat
2
435-42
1993
Homo sapiens
Olsen, TC; Eiken, HG; Knappskog, PM; Kase, BF; MĂĽnsson, JE; Boman, H; Apold, J
Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.
Hum Genet
97
198-203
1996
Homo sapiens
Rathmann, M; Bunge, S; Beck, M; Kresse, H; Tylki-Szymanska, A; Gal, A
Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.
Am J Hum Genet
59
1202-9
1996
Homo sapiens
Di Francesco, C; Cracco, C; Tomanin, R; Picci, L; Ventura, L; Zacchello, E; Di Natale, P; Anson, DS; Hopwood, JJ; Graham, FL; Scarpa, M
In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer.
Gene Ther
4
442-8
1997
animal
Balzano, N; Villani, GR; Grosso, M; Izzo, P; Di Natale, P
Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online.
Hum Mutat
11
333
1998
Homo sapiens
Vallance, HD; Bernard, L; Rashed, M; Chiu, D; Le, G; Toone, J; Applegarth, DA; Coulter-Mackie, M
Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.
Hum Mutat
13
338
1999
Homo sapiens
Zhang, CY; Li, LY; Liu, SF; Fu, JJ; Lu, GX
[Detection of a new mutation (G1253T) of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis type II]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
21
269-71
2004
Homo sapiens
Chou, YY; Chao, SC; Kuo, PL; Lin, SJ
A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.
J Formos Med Assoc
104
273-5
2005
Homo sapiens
Guo, YB; Lin, QD; Du, CS
[A new mutation of iduronate-2-sulfatase gene from the patient with Hunter syndrome]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
23
67-9
2006
insertion sequences
Guo, YB; Du, CS
[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II]
Zhonghua Er Ke Za Zhi
44
110-3
2006
Homo sapiens
Muenzer, J; Wraith, JE; Beck, M; Giugliani, R; Harmatz, P; Eng, CM; Vellodi, A; Martin, R; Ramaswami, U; Gucsavas-Calikoglu, M; Vijayaraghavan, S; Wendt, S; Puga, A; Ulbrich, B; Shinawi, M; Cleary, M; Piper, D; Conway, AM; Kimura, A
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome).
Genet Med
8
465-73
2006
Homo sapiens
Gutierrez-Solana, LG
[Clinical study of enzyme replacement therapy with idursulfase.]
Rev Neurol
44 Suppl 1
S7-S11
2007
Homo sapiens, Mus musculus
Zareba, G
Idursulfase in Hunter syndrome treatment.
Drugs Today (Barc)
43
759-67
2007
Homo sapiens
Clarke, LA
Idursulfase for the treatment of mucopolysaccharidosis II.
Expert Opin Pharmacother
9
311-7
2008
Homo sapiens
Idursulfase: a poor risk-benefit balance in type II mucopolysaccharidosis.
Prescrire Int
17
109
2008
Homo sapiens
Burrow, TA; Leslie, ND
Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.
Biologics
2
311-20
2008
Homo sapiens
Burton, BK; Guffon, N; Roberts, J; van der Ploeg, AT; Jones, SA; ,
Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey.
Mol Genet Metab
101
123-9
0
Homo sapiens
Muenzer, J; Beck, M; Eng, CM; Giugliani, R; Harmatz, P; Martin, R; Ramaswami, U; Vellodi, A; Wraith, JE; Cleary, M; Gucsavas-Calikoglu, M; Puga, AC; Shinawi, M; Ulbrich, B; Vijayaraghavan, S; Wendt, S; Conway, AM; Rossi, A; Whiteman, DA; Kimura, A
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.
Genet Med
13
95-101
2011
Homo sapiens
Glamuzina, E; Fettes, E; Bainbridge, K; Crook, V; Finnegan, N; Abulhoul, L; Vellodi, A
Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points.
J Inherit Metab Dis
2011
Homo sapiens
Pérez-Calvo, J; Bergua Sanclemente, I; López Moreno, MJ; Torralba Cabeza, MÁ; Amores Arriaga, B
[Early response to idursulfase in a 31-year old male patient with Hunter syndrome].
Rev Clin Esp
211
e42-5
0
Homo sapiens
Marín, LL; Gutiérrez-Solana, LG; Fernández, AT
Hunter Syndrome: Resolution of Extensive Typical Skin Lesions After 9?Months of Enzyme Replacement Therapy with Idursulfase.
Pediatr Dermatol
2011
Homo sapiens
da Silva, EM; Strufaldi, MW; Andriolo, RB; Silva, LA
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
Cochrane Database Syst Rev
11
CD008185
2011
Homo sapiens
Li, XY; Shi, XY; Ju, J; Hu, XH; Yang, XF; Zou, LP
A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.
World J Pediatr
8
281-3
2012
Homo sapiens
Pińa-Aguilar, RE; Zaragoza-Arévalo, GR; Rau, I; Gal, A; Alcántara-Ortigoza, MA; López-Martínez, MS; Santillán-Hernández, Y
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
Eur J Med Genet
56
159-62
2013
Homo sapiens
Tajima, G; Sakura, N; Kosuga, M; Okuyama, T; Kobayashi, M
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings.
Mol Genet Metab
108
172-7
2013
Homo sapiens
Christianto, A; Watanabe, H; Nakajima, T; Inazu, T
Idursulfase enzyme replacement therapy in an adult patient with severe Hunter syndrome having a novel mutation of iduronate-2-sulfatase gene.
Clin Chim Acta
423
66-8
2013
Homo sapiens
da Silva, EM; Strufaldi, MW; Andriolo, RB; Silva, LA
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
Cochrane Database Syst Rev
1
CD008185
2014
Homo sapiens
da Silva, EM; Strufaldi, MW; Andriolo, RB; Silva, LA
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
Cochrane Database Syst Rev
2
CD008185
2016
Homo sapiens
Kim, C; Seo, J; Chung, Y; Ji, HJ; Lee, J; Sohn, J; Lee, B; Jo, EC
Comparative study of idursulfase beta and idursulfase in vitro and in vivo.
J Hum Genet
62
167-174
2017
Mus musculus
Ngu, LH; Ong Peitee, W; Leong, HY; Chew, HB
Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II.
Mol Genet Metab Rep
12
28-32
2017
Homo sapiens
Whiteman, DA; Kimura, A
Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.
Drug Des Devel Ther
11
2467-2480
2017
Homo sapiens
Marazza, A; Galli, C; Fasana, E; Sgrignani, J; Burda, P; Fassi, EMA; Baumgartner, M; Cavalli, A; Molinari, M
Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome.
DNA Cell Biol
39
226-234
2020
Homo sapiens
Ueda, K; Hokugo, J
Safety and efficacy of idursulfase in the treatment of mucopolysaccharidosis II (Hunter syndrome): a post-marketing study in Japan.
Expert Opin Drug Saf
19
891-901
2020
Homo sapiens
Fukuhara, Y; Miura, A; Yamazaki, N; So, T; Kosuga, M; Yanagi, K; Kaname, T; Yamagata, T; Sakuraba, H; Okuyama, T
A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase.
Mol Genet Metab Rep
25
100692
2020
Homo sapiens
Giugliani, R; Martins, AM; So, S; Yamamoto, T; Yamaoka, M; Ikeda, T; Tanizawa, K; Sonoda, H; Schmidt, M; Sato, Y
Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil.
Mol Ther
29
2378-2386
2021
Homo sapiens
Yamamoto, R; Yoden, E; Tanaka, N; Kinoshita, M; Imakiire, A; Hirato, T; Minami, K
Nonclinical safety evaluation of pabinafusp alfa, an anti-human transferrin receptor antibody and iduronate-2-sulfatase fusion protein, for the treatment of neuronopathic mucopolysaccharidosis type II.
Mol Genet Metab Rep
27
100758
2021
Homo sapiens
Ohira, M; Kikuchi, E; Mizuta, S; Yoshida, N; Onodera, M; Nakanishi, M; Okuyama, T; Mashima, R
Production of therapeutic iduronate-2-sulfatase enzyme with a novel single-stranded RNA virus vector.
Genes Cells
2021
Homo sapiens
Zhang, HW; Wang, Y; Ye, J; Qiu, WJ; Han, LS; Gao, XL; Gu, XF
[Enzymatic diagnosis of 47 cases with mucopolysaccharidosis]
Zhonghua Er Ke Za Zhi
47
276-80
2009
Homo sapiens
BayĂŠs, M; Rabasseda, X; Prous, JR
Gateways to clinical trials.
Methods Find Exp Clin Pharmacol
26
801-27
2004
Homo sapiens, Taxus
Hong, Y; Yu, SS; Kim, JM; Lee, K; Na, YS; Whitley, CB; Sugimoto, Y; Kim, S
Construction of a high efficiency retroviral vector for gene therapy of Hunter's syndrome.
J Gene Med
5
18-29
2003
Homo sapiens
Lamanna, WC; Lawrence, R; Sarrazin, S; Esko, JD
Secondary storage of dermatan sulfate in Sanfilippo disease.
J Biol Chem
286
6955-62
2011
Homo sapiens
Caso-González, A; Núńez-Rodríguez, J; Nebot-Villacampa, MJ; González-Pérez, Y; Marín-Gorricho, R; Leralta-González, C; Obaldia-Alańa, C
[Clinical experience with orphan drugs for rare metabolic diseases].
An Pediatr (Engl Ed)
2020
Homo sapiens
Wehnert, M; Hopwood, JJ; SchrĂśder, W; Herrmann, FH
Structural gene aberrations in mucopolysaccharidosis II (Hunter).
Hum Genet
89
430-2
1992
Homo sapiens
SchrĂśder, W; Petruschka, L; Wehnert, M; Zschiesche, M; Seidlitz, G; Hopwood, JJ; Herrmann, FH
Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.
J Med Genet
30
210-3
1993
Homo sapiens
Lobo-Menendez, F; Bowman, LH; Dewey, MJ
Inverted Gcg/CGC trinucleotide microsatellites in the 5'-region of Mus IDS mRNA: recurrent induction of aberrant reverse transcripts.
Mol Biol Rep
31
107-12
2004
Mus musculus
Dean, MF; Stevens, RL; Muir, H; Benson, PF; Button, LR; Anderson, RL; Boylston, A; Mowbray, J
Enzyme replacement therapy by fibroblast transplantation: long-term biochemical study in three cases of Hunter's syndrome.
J Clin Invest
63
138-46
1979
Homo sapiens
Millat, G; Froissart, R; Cudry, S; Bonnet, V; Maire, I; Bozon, D
COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations.
Biochim Biophys Acta
1406
214-8
1998
Homo sapiens
Uribe, A; Giugliani, R
Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.
JIMD Rep
11
107-16
2013
Homo sapiens
Cobos, PN; Steglich, C; Santer, R; Lukacs, Z; Gal, A
Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis.
JIMD Rep
2014
Homo sapiens
Franco, JFDS; El Dib, R; Agarwal, A; Soares, D; Milhan, NVM; Albano, LMJ; Kim, CA
Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.
Intractable Rare Dis Res
6
183-190
2017
Homo sapiens
Nwokoro, N; Neufeld, EF
Detection of hunter heterozygotes by enzymatic analysis of hair roots.
Am J Hum Genet
31
42-9
1979
Homo sapiens
Beck, M; Steglich, C; Zabel, B; Dahl, N; Schwinger, E; Hopwood, JJ; Gal, A
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.
Am J Med Genet
44
100-3
1992
Homo sapiens
Di Natale, P; Annella, T; Daniele, A; Negri, R; Nitsch, L
Cell-to-cell contact between normal fibroblasts and lymphoblasts deficient in lysosomal enzymes.
Biochim Biophys Acta
1138
143-8
1992
Homo sapiens
Wilson, PJ; Suthers, GK; Callen, DF; Baker, E; Nelson, PV; Cooper, A; Wraith, JE; Sutherland, GR; Morris, CP; Hopwood, JJ
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.
Hum Genet
86
505-8
1991
Homo sapiens
Zlotogora, J; Bach, G
Hunter syndrome: prenatal diagnosis in maternal serum.
Am J Hum Genet
38
253-60
1986
Homo sapiens
Zlotogora, J; Bach, G
Heterozygote detection in Hunter syndrome.
Am J Med Genet
17
661-5
1984
Homo sapiens
Rathmann, M; Bunge, S; Steglich, C; Schwinger, E; Gal, A
Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.
Hum Genet
95
34-8
1995
Homo sapiens
Bunge, S; Steglich, C; Lorenz, P; Beck, M; Xu, S; Hopwood, JJ; Gal, A
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation.
Prenat Diagn
14
777-80
1994
Homo sapiens
Bondeson, ML; Malmgren, H; Dahl, N; Carlberg, BM; Pettersson, U
Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.
Eur J Hum Genet
3
219-27
1995
Homo sapiens
Balzano, N; Villani, GR; Coppa, G; Di Natale, P
[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis]
Pediatr Med Chir
18
91-3
0
Homo sapiens
Birot, AM; Bouton, O; Froissart, R; Maire, I; Bozon, D
IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient.
Hum Mutat
8
44-50
1996
Homo sapiens
Braun, SE; Pan, D; Aronovich, EL; Jonsson, JJ; McIvor, RS; Whitley, CB
Preclinical studies of lymphocyte gene therapy for mild Hunter syndrome (mucopolysaccharidosis type II).
Hum Gene Ther
7
283-90
1996
Homo sapiens, Mus musculus, Cytomegalovirus
Su, PH; Hwu, WL; Chiang, SC; Chiu, PC; Lin, SJ; Shu, SG; Wang, TR
Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan.
J Formos Med Assoc
97
186-90
1998
Homo sapiens
El Kassar, N; Hetet, G; Brière, J; Grandchamp, B
X-chromosome inactivation in healthy females: incidence of excessive lyonization with age and comparison of assays involving DNA methylation and transcript polymorphisms.
Clin Chem
44
61-7
1998
Homo sapiens
Stroncek, DF; Hubel, A; Shankar, RA; Burger, SR; Pan, D; McCullough, J; Whitley, CB
Retroviral transduction and expansion of peripheral blood lymphocytes for the treatment of mucopolysaccharidosis type II, Hunter's syndrome.
Transfusion
39
343-50
1999
Homo sapiens
Vellodi, A; Young, E; Cooper, A; Lidchi, V; Winchester, B; Wraith, JE
Long-term follow-up following bone marrow transplantation for Hunter disease.
J Inherit Metab Dis
22
638-48
1999
Homo sapiens
Coppa, GV; Gabrielli, O; Cordiali, R; Villani, GR; Di Natale, P
Bone marrow transplantation in a Hunter patient with P266H mutation.
Int J Mol Med
4
433-6
1999
Homo sapiens
Cudry, S; Froissart, R; Bouton, O; Maire, I; Bozon, D
The 2.1-, 5.4- and 5.7-kb transcripts of the IDS gene are generated by different polyadenylation signals.
Biochim Biophys Acta
1447
35-42
1999
Homo sapiens
Gale, RE
Evaluation of clonality in myeloid stem-cell disorders.
Semin Hematol
36
361-72
1999
Homo sapiens
Hubel, A; Darr, TB; Norman, JA
Freezing characteristics of genetically modified lymphocytes for the treatment of MPS II.
Cell Transplant
8
521-30
0
Homo sapiens
Lagerstedt, K; Carlberg, BM; Karimi-Nejad, R; Kleijer, WJ; Bondeson, ML
Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): identification of a fusion transcript including sequences from the gene W and the IDS gene.
Hum Mutat
15
324-31
2000
Homo sapiens
Meyer, S; Thornley, M; Wynn, RF; Brennan, BM; Carr, T; Wraith, JE; Will, AM
Donor bone marrow from a sibling with inborn error of metabolism for treatment of acute leukaemia - clinical and biochemical consequences in the non-affected recipient.
Bone Marrow Transplant
25
909-11
2000
Homo sapiens
Mullen, CA; Thompson, JN; Richard, LA; Chan, KW
Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia.
Bone Marrow Transplant
25
1093-7
2000
Homo sapiens
Muenzer, J; Lamsa, JC; Garcia, A; Dacosta, J; Garcia, J; Treco, DA
Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report.
Acta Paediatr Suppl
91
98-9
2002
Homo sapiens, Mus musculus
Chang, JH; Lin, SP; Lin, SC; Tseng, KL; Li, CL; Chuang, CK; Lee-Chen, GJ
Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).
Hum Genet
116
160-6
2005
Homo sapiens
Wang, D; Wood, T; Sadilek, M; Scott, CR; Turecek, F; Gelb, MH
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).
Clin Chem
53
137-40
2007
Homo sapiens
Muenzer, J; Gucsavas-Calikoglu, M; McCandless, SE; Schuetz, TJ; Kimura, A
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome).
Mol Genet Metab
90
329-37
2007
Homo sapiens
Froissart, R; Da Silva, IM; Maire, I
Mucopolysaccharidosis type II: an update on mutation spectrum.
Acta Paediatr Suppl
96
71-7
2007
Homo sapiens
Wraith, JE; Scarpa, M; Beck, M; Bodamer, OA; De Meirleir, L; Guffon, N; Meldgaard Lund, A; Malm, G; Van der Ploeg, AT; 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
267-277
2008
Homo sapiens
Wraith, JE; Beck, M; Giugliani, R; Clarke, J; Martin, R; Muenzer, J; ,
Initial report from the Hunter Outcome Survey.
Genet Med
10
508-16
2008
Homo sapiens
Jia, B; Xue, JJ; Liang, DS; Wu, LQ
[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II]
Zhonghua Er Ke Za Zhi
47
109-13
2009
Homo sapiens
Sohn, YB; Kim, SJ; Park, SW; Park, HD; Ki, CS; Kim, CH; Huh, SW; Yeau, S; Paik, KH; Jin, DK
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.
Am J Med Genet A
152A
3129-32
2010
Homo sapiens, Stenosis
de Camargo Pinto, LL; Maluf, SW; Leistner-Segal, S; Zimmer da Silva, C; Brusius-Facchin, A; Burin, MG; Brustolin, S; Llerena, J; Moraes, L; Vedolin, L; Schuch, A; Giugliani, R; Schwartz, IV
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations.
Am J Med Genet A
155A
50-7
2011
Homo sapiens
Germain, DP; Boucly, C; Carlier, RY; Caudron, E; Charlier, P; Colas, F; Jabbour, F; Martinez, V; Mokhtari, S; Orlikowski, D; Pellegrini, N; Perronne, C; Prigent, H; Rubinsztajn, R; Benistan, K
[In Process Citation].
Rev Med Interne
31 Suppl 2
S279-91
2010
Homo sapiens
Beck, M
Mucopolysaccharidosis Type II (Hunter Syndrome): Clinical Picture and Treatment.
Curr Pharm Biotechnol
2011
Homo sapiens
Papadia, F; Lozupone, MS; Gaeta, A; Capodiferro, D; Lacalendola, G
Long-term enzyme replacement therapy in a severe case of mucopolysaccharidosis type II (Hunter syndrome).
Eur Rev Med Pharmacol Sci
15
253-8
2011
Homo sapiens
Kampmann, C; Beck, M; Morin, I; Loehr, JP
Prevalence and characterization of cardiac involvement in hunter syndrome.
J Pediatr
159
327-331.e2
2011
Homo sapiens
Tylki-Szymanska, A; Jurecka, A; Zuber, Z; Rozdzynska, A; Marucha, J; Czartoryska, B
Enzyme replacement therapy for mucopolysaccharidosis II from 3?months of age: a 3-year follow-up.
Acta Paediatr
2011
Homo sapiens
Altarescu, G; Renbaum, P; Eldar-Geva, T; Brooks, B; Varshaver, I; Avitzour, M; Margalioth, EJ; Levy-Lahad, E; Elstein, D; Epsztejn-Litman, S; Eiges, R
Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.
Prenat Diagn
2011
Homo sapiens
Muenzer, J; Bodamer, O; Burton, B; Clarke, L; Frenking, GS; Giugliani, R; Jones, S; Rojas, MV; Scarpa, M; Beck, M; Harmatz, P
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.
Eur J Pediatr
171
181-8
2012
Homo sapiens
Scarpa, M; Almássy, Z; Beck, M; Bodamer, O; Bruce, IA; De Meirleir, L; Guffon, N; Guillén-Navarro, E; Hensman, P; Jones, S; Kamin, W; Kampmann, C; Lampe, C; Lavery, CA; Teles, EL; Link, B; Lund, AM; Malm, G; Pitz, S; Rothera, M; Stewart, C; Tylki-Szyma?ska, A; van der Ploeg, A; Walker, R; Zeman, J; Wraith, JE; ,
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Orphanet J Rare Dis
6
72
2011
Homo sapiens
Jurecka, A; Krumina, Z; ?uber, Z; Ró?d?y?ska-?wi?tkowska, A; K?oska, A; Czartoryska, B; Tylki-Szyma?ska, A
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Am J Med Genet A
158A
450-4
2012
Homo sapiens
Beusterien, KM
Development of the multi-attribute Adolescent Health Utility Measure (AHUM).
Health Qual Life Outcomes
10
102
2012
Homo sapiens
Westhoff, M; Litterst, P
Successful noninvasive ventilation and enzyme replacement therapy in an adult patient with morbus hunter.
JIMD Rep
5
77-82
2012
Homo sapiens
Buraczewska, M; O'Leary, D; Walsh, O; Monavari, A; Crushell, E
Parental experience of enzyme replacement therapy for Hunter syndrome.
Ir Med J
106
120-2
2013
Homo sapiens
Guillén-Navarro, E; Domingo-Jiménez, MR; Alcalde-Martín, C; Cancho-Candela, R; Couce, ML; Galán-Gómez, E; Alonso-Luengo, O
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study.
Orphanet J Rare Dis
8
92
2013
Homo sapiens
Guillén-Navarro, E; Blasco, AJ; Gutierrez-Solana, LG; Couce, ML; Cancho-Candela, R; Lázaro, P; ,
[Clinical practice guideline for the management of Hunter syndrome.]
Med Clin (Barc)
2013
Homo sapiens
Chung, YK; Sohn, YB; Sohn, JM; Lee, J; Chang, MS; Kwun, Y; Kim, CH; Lee, JY; Yook, YJ; Ko, AR; Jin, DK
A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.
Glycoconj J
31
309-15
2014
Homo sapiens
Rezende, MM; Müller, KB; Pereira, VG; D'Almeida, V
Brazilian reference values for MPS II screening in dried blood spots--a fluorimetric assay.
Clin Biochem
47
1297-9
2014
Homo sapiens
Lonardo, F; Di Natale, P; Lualdi, S; Acquaviva, F; Cuoco, C; Scarano, F; Maioli, M; Pavone, LM; Di Gregorio, G; Filocamo, M; Scarano, G
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.
Am J Med Genet A
164
2627-32
2014
Homo sapiens
Tylki-Szyma?ska, A
Mucopolysaccharidosis type II, Hunter's syndrome.
Pediatr Endocrinol Rev
12 Suppl 1
107-13
2014
Homo sapiens, Stenosis
Rasheeedah, I; Patrick, O; Abdullateef, A; Mohammed, A; Sherifat, K; Gbadebo, I
Challenges in the Management of Mucopolysaccharidosis Type II (Hunter's Syndrome) in a Developing Country: a Case Report.
Ethiop J Health Sci
25
279-82
2015
Homo sapiens
Narayanan, DL; Srivastava, P; Mandal, K; Gambhir, PS; Phadke, SR
Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum.
Indian Pediatr
53
134-6
2016
Homo sapiens
?eboun, M; Rybová, J; Dobrovolný, R; V?elák, J; Veselková, T; torkánová, G; Muálková, D; H?ebí?ek, M; Ledvinová, J; Magner, M; Zeman, J; Peková, K; Dvo?áková, L
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.
Folia Biol (Praha)
62
82-9
2016
Homo sapiens
Zalfa, C; Verpelli, C; D'Avanzo, F; Tomanin, R; Vicidomini, C; Cajola, L; Manara, R; Sala, C; Scarpa, M; Vescovi, AL; De Filippis, L
Glial degeneration with oxidative damage drives neuronal demise in MPSII disease.
Cell Death Dis
7
e2331
2016
Homo sapiens
Li, Y; Mei, S; Kong, X; Zhao, Z; Zhu, X; Yang, X; Qin, Z; Wu, H
[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis type?].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
34
58-60
2017
Homo sapiens
Costa, R; Urbani, A; Salvalaio, M; Bellesso, S; Cieri, D; Zancan, I; Filocamo, M; Bonaldo, P; Szabň, I; Tomanin, R; Moro, E
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II.
Hum Mol Genet
26
1643-1655
2017
Danio rerio, Mus sp.
Muenzer, J; Jones, SA; Tylki-Szyma?ska, A; Harmatz, P; Mendelsohn, NJ; Guffon, N; Giugliani, R; Burton, BK; Scarpa, M; Beck, M; Jangelind, Y; Hernberg-Stahl, E; Larsen, MP; Pulles, T; Whiteman, DAH
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
Orphanet J Rare Dis
12
82
2017
Homo sapiens
Lualdi, S; Del Zotto, G; Zegarra-Moran, O; Pedemonte, N; Corsolini, F; Bruschi, M; Tomati, V; Amico, G; Candiano, G; Dardis, A; Cooper, DN; Filocamo, M
In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.
Hum Mutat
38
849-862
2017
Homo sapiens
Kim, S; Whitley, CB; Jarnes Utz, JR
Correlation between urinary GAG and anti-idursulfase ERT neutralizing antibodies during treatment with NICIT immune tolerance regimen: A case report.
Mol Genet Metab
122
92-99
2017
Homo sapiens
Kim, KH; Messinger, YH; Burton, BK
Successful reduction of high-sustained anti-idursulfase antibody titers by immune modulation therapy in a patient with severe mucopolysaccharidosis type II.
Mol Genet Metab Rep
2
20-24
2015
Homo sapiens
Selvanathan, A; Ellaway, C; Wilson, C; Owens, P; Shaw, PJ; Bhattacharya, K
Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series.
JIMD Rep
41
81-89
2018
Homo sapiens
Rigon, L; Salvalaio, M; Pederzoli, F; Legnini, E; Duskey, JT; D'Avanzo, F; De Filippis, C; Ruozi, B; Marin, O; Vandelli, MA; Ottonelli, I; Scarpa, M; Tosi, G; Tomanin, R
Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.
Int J Mol Sci
20
2019
Homo sapiens, Mus sp.
Burton, BK; Hoganson, GE; Fleischer, J; Grange, DK; Braddock, SR; Hickey, R; Hitchins, L; Groepper, D; Christensen, KM; Kirby, A; Moody, C; Shryock, H; Ashbaugh, L; Shao, R; Basheeruddin, K
Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience.
J Pediatr
2019
Homo sapiens
Julien, DC; Woolgar, K; Pollard, L; Miller, H; Desai, A; Lindstrom, K; Kishnani, PS
Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome.
Front Immunol
11
1000
2020
Homo sapiens
Wang, J; Bhalla, A; Ullman, JC; Fang, M; Ravi, R; Arguello, A; Thomsen, E; Tsogtbaatar, B; Guo, JL; Skuja, LL; Dugas, JC; Davis, SS; Poda, SB; Gunasekaran, K; Costanzo, S; Sweeney, ZK; Henry, AG; Harris, JM; Henne, KR; Astarita, G
High-Throughput Liquid Chromatography-Tandem Mass Spectrometry Quantification of Glycosaminoglycans as Biomarkers of Mucopolysaccharidosis II.
Int J Mol Sci
21
2020
Mus musculus
Kowalski, T; Ruddle, JB; de Jong, G; Mack, HG
Expanding the phenotype of mucopolysaccharidosis type II retinopathy.
Ophthalmic Genet
42
631-636
2021
Homo sapiens
Arunkumar, N; Vu, DC; Khan, S; Kobayashi, H; Ngoc Can, TB; Oguni, T; Watanabe, J; Tanaka, M; Yamaguchi, S; Taketani, T; Ago, Y; Ohnishi, H; Saikia, S; Álvarez, JV; Tomatsu, S
Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.
Diagnostics (Basel)
11
2021
Homo sapiens
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