Reference on EC 3.2.1.76 - L-iduronidase
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REF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
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
Rattus
Matalon, R.; Cifonelli, J.A.; Dorfmann, A.
L-Iduronidase in cultured human fibroblasts and liver
Biochem. Biophys. Res. Commun.
42
340-345
1971
Homo sapiens
Weissmann, B.; Santiago, R.
alpha-L-Iduronidase in lysosomal extracts
Biochem. Biophys. Res. Commun.
46
1430-1433
1972
Rattus norvegicus
Hall, C.W.; Neufeld, E.F.
alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells
Arch. Biochem. Biophys.
158
817-821
1993
Homo sapiens
Shapiro, L.J.; Hall, C.W.; Leder, I.G.; Neufeld, E.F.
The relationship of alpha-L-iduronidase and hurler corrective faktor
Arch. Biochem. Biophys.
172
156-161
1976
Homo sapiens
Rome, L.H.; Garvin, A.J.; Neufeld, E.F.
Human kidney alpha-L-iduronidase: purification and characterization
Arch. Biochem. Biophys.
189
344-353
1978
Homo sapiens
Clements, P.R.; Brooks, D.A.; McCourt, P.A.G.; Hopwood, J.J.
Immunopurification and characterization of human alpha-L-iduronidase with the use of monoclonal antibodies
Biochem. J.
259
199-208
1989
Homo sapiens
Ohshita, T.; Sakuda, H.; Nakasone, S.; Iwamasa, T.
Purification, characterization and localization of pig liver alpha-L-iduronidase
Eur. J. Biochem.
179
201-207
1989
Sus scrofa
di Bello, I.C.; Dorling, P.; Fellows, L.; Winchester, B.
Specifc inhibition of human beta-D-glucuronidase and alpha-L-iduronidase by a trihydroxy pipecolic acid of plant origin
FEBS Lett.
176
61-64
1984
BRENDA: Homo sapiens
Textmining: plant, Baphia racemosa
Myerowitz R.; Neufeld, E.F.
Maturation of alpha-L-iduronidase in cultured human fibroblasts
J. Biol. Chem.
256
3044-3048
1981
Homo sapiens
Clements, P.R.; Brooks, D.A.; Saccone, G.T.P; Hopwood, J.J.
Human alpha-L-iduronidase. 1. purification, monoclonal antibody production, native and subunit molecular mass
Eur. J. Biochem.
152
21-28
1985
Homo sapiens
Clements, P.R.; Muller, V.; Hopwood, J.J.
Human alpha-L-iduronidase. 2. catalytic properties
Eur. J. Biochem.
152
29-34
1985
Homo sapiens
Schuchmann, E.H.; Astrin, K.H.; Aula, P.; Desnick, R.J.
Regional assignment of the structural gene for human alpha-L-iduronidase
Proc. Natl. Acad. Sci. USA
81
1169-1173
1984
BRENDA: Homo sapiens
Textmining: Mus musculus, Oryctolagus cuniculus
Schuchmann, E.H.; Guzmann, N.A.; Desnick, R.J.
Human alpha-L-iduronidase. I. Purification and properties of the high uptake (higher molecular weight) and the low uptake (processed) forms
J. Biol. Chem.
259
3132-3140
1984
BRENDA: Homo sapiens
Textmining: Oryctolagus cuniculus
Rome, L.H.
alpha-L-Iduronidase from human kidney
Methods Enzymol.
83
578-583
1982
Homo sapiens
Kosaka, H.; Isemura, M.; Ono, T.; Nishimura, Y.; Kato, K.
Studies on the alpha-L-iduronidase activity of beta-glucuronidase preparations from bovine liver, rat liver, and rat preputial gland
J. Biochem.
88
69-75
1980
BRENDA: Bos taurus, Rattus norvegicus
Textmining: Rattus
Freeman, C.; Hopwood, J.J.
Human alpha-L-iduronidase. Catalytic properties and an integrated role in the lysosomal degradation of heparan sulphate
Biochem. J.
282
899-908
1992
Homo sapiens
Stoltzfus, L.J.; Sosa-Pineda, B.; Moskowitz, S.M.; Menon, K.P.; Dlott, B.; Hooper, L.; Teplow, D.B.; Shull, R.M.; Neufeld, E.F.
Cloning and characterization of cDNA encoding canine alpha-L-iduronidase
J. Biol. Chem.
267
6570-6575
1992
BRENDA: Canis sp.
Textmining: Canis lupus familiaris
Unger, E.G.; Durrant, J.; Anson, D.S.; Hopwood, J.J.
Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts
Biochem. J.
304
43-49
1994
BRENDA: Homo sapiens
Textmining: Cricetulus griseus
Brooks, D.A.; Harper, G.S.; Gibson, G.J.; Ashton, L.J.; Taylor, J.A.; McCourt, P.A.D.; Freeman, C.; Clements, P.R.; Hoffmann, J.W.; Hopwood, J.J.
Hurler Syndrome: a patient with abnormally high levels of alpha-L-iduronidase
Biochem. Med. Metab. Biol.
47
211-220
1992
Homo sapiens
Kakkis, E.D.; Matynia, A.; Jonas, A.J.; Neufeld, E.F.
Overexpression of the human lysosomal enzyme alpha-L-iduronidase in chinese hamster ovary cells
Protein Expr. Purif.
5
225-232
1994
BRENDA: Homo sapiens
Textmining: Cricetulus griseus, Bos taurus, Mus musculus, Cytomegalovirus, collection
Stewart, K.; Brown, O.A.; Morelli, A.E.; Fairbairn, L.J.; Lashford, L.S.; Cooper, A.; Hatton, C.E.; Dexter, T.M.; Castro, M.G.; Lowenstein, P.R.
Uptake of alpha-(L)-iduronidase produced by retrovirally transduced fibroblasts into neuronal and glial cells in vitro
Gene Ther.
4
63-75
1997
Homo sapiens
Clarke, L.A.; Nasir, J.; Zhang, H.; McDonald, H.; Applegarth, D.A.; Hayden, M.R.; Toone, J.
Murine alpha-L-iduronidase: cDNA isolation and expression
Genomics
24
311-316
1994
BRENDA: Mus musculus
Textmining: Canis lupus familiaris, Homo sapiens
Sakuda, H.; Kusaba, A.; Ohshita, T.; Iwamasw, T.
Tissue and cellular distribution of alpha-L-iduronidase in the pig
J. Histochem. Cytochem.
38
785-792
1990
Sus scrofa
Zhao, K.W.; Neufeld, E.F.
Purification and characterization of recombinant human alpha-N-acetylglucosaminidase secreted by chinese hamster ovary cells
Protein Expr. Purif.
19
202-211
2000
Homo sapiens
Cechowska-Pasko, M.; Wolanska, M.; Pallka, J.
Glycosaminoglycan-degrading enzymes in the skin of fasted rats
Comp. Biochem. Physiol. B
131
551-557
2002
Metazoa, Rattus
Ruth, L.; Eisenberg, D.; Neufeld, E.F.
alpha-L-Iduronidase forms semi-crystalline spherulites with amyloid-like properties
Acta Crystallogr. Sect. D
56
524-528
2000
Homo sapiens
-
Mandelli, J.; Wajner, A.; Pires, R.F.; Giugliani, R.; Coelho, J.C.
Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidase
Arch. Med. Res.
33
20-24
2002
Homo sapiens
Nieman, C.E.; Wong, A.W.; He, S.; Clarke, L.; Hopwood, J.J.; Withers, S.G.
Family 39 alpha-L-iduronidases and beta-D-xylosidases react through similar glycosyl-enzyme intermediates: Identification of the human iduronidase nucleophile
Biochemistry
42
8054-8065
2003
BRENDA: Homo sapiens
Textmining: Bacillus sp. (in: Bacteria)
Hein, L.K.; Hopwood, J.J.; Clements, P.R.; Brooks, D.A.
The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation
Biochim. Biophys. Acta
1639
95-103
2003
Homo sapiens
Mandelli, J.; Wajner, A.; Pires, R.; Giugliani, R.; Coelho, J.C.
Effect of CuCl2, NaCl and EDTA on the enzyme alpha-L-iduronidase in the plasma of normal individuals and heterozygotes for MPS I
Clin. Chim. Acta
318
83-89
2002
Homo sapiens
Brooks, D.A.; Fabrega, S.; Hein, L.K.; Parkinson, E.J.; Durand, P.; Yogalingam, G.; Matte, U.; Giugliani, R.; Dasvarma, A.; Eslahpazire, J.; Henrissat, B.; Mornon, J.P.; Hopwood, J.J.; Lehn, P.
Glycosidase active site mutations in human alpha-L-iduronidase
Glycobiology
11
741-750
2001
BRENDA: Homo sapiens
Textmining: Cricetulus griseus
Kloska, A.; Bohdanowicz, J.; Konopa, G.; Tylki-Szym?ska, A.; Jakobkiewicz-Banecka, J.; Czartoryska, B.; Liberek, A.; Wegrzyn, A.; Wegrzyn, G.
Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme)
Am. J. Med. Genet. A
139
199-203
2005
Homo sapiens
Yogalingam, G.; Guo, X.H.; Muller, V.J.; Brooks, D.A.; Clements, P.R.; Kakkis, E.D.; Hopwood, J.J.
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy
Hum. Mutat.
24
199-207
2004
Homo sapiens (P35475), Homo sapiens
Prince, W.S.; McCormick, L.M.; Wendt, D.J.; Fitzpatrick, P.A.; Schwartz, K.L.; Aguilera, A.I.; Koppaka, V.; Christianson, T.M.; Vellard, M.C.; Pavloff, N.; Lemontt, J.F.; Qin, M.; Starr, C.M.; Bu, G.; Zankel, T.C.
Lipoprotein receptor binding, cellular uptake, and lysosomal delivery of fusions between the receptor-associated protein (RAP) and alpha-L-iduronidase or acid alpha-glucosidase
J. Biol. Chem.
279
35037-35046
2004
BRENDA: Homo sapiens
Textmining: Cricetulus griseus, Mus musculus, Rattus
Laradi, S.; Tukel, T.; Erazo, M.; Shabbeer, J.; Chkioua, L.; Khedhiri, S.; Ferchichi, S.; Chaabouni, M.; Miled, A.; Desnick, R.J.
Mucopolysaccharidosis I: alpha-L-iduronidase mutations in three tunisian families
J. Inherit. Metab. Dis.
28
1019-1026
2005
Homo sapiens
Hein, L.K.; Bawden, M.; Muller, V.J.; Sillence, D.; Hopwood, J.J.; Brooks, D.A.
alpha-L-Iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients
J. Mol. Biol.
338
453-462
2004
Homo sapiens
Rempel, B.P.; Clarke, L.A.; Withers, S.G.
A homology model for human alpha-L-iduronidase: insights into human disease
Mol. Genet. Metab.
85
28-37
2005
BRENDA: Homo sapiens (P35475), Homo sapiens
Textmining: Thermoanaerobacterium saccharolyticum
Belichenko, P.V.; Dickson, P.I.; Passage, M.; Jungles, S.; Mobley, W.C.; Kakkis, E.D.
Penetration, diffusion, and uptake of recombinant human alpha-L-iduronidase after intraventricular injection into the rat brain
Mol. Genet. Metab.
86
141-149
2005
BRENDA: Homo sapiens
Textmining: Rattus
Pabba, J.; Rempel, B.P.; Withers, S.G.; Vasella, A.
Synthesis of glycaro-1,5-lactams and tetrahydrotetrazolopyridine-5-carboxylates: inhibitors of beta-D-glucuronidase and alpha-L-iduronidase
Helv. Chim. Acta
89
635-666
2006
Homo sapiens
-
Di Domenico, C.; Di Napoli, D.; Gonzalez Y. Reyero, E.; Lombardo, A.; Naldini, L.; Di Natale, P.
Limited transgene immune response and long-term expression of human alpha-L-iduronidase in young adult mice with mucopolysaccharidosis type I by liver-directed gene therapy
Hum. Gene Ther.
17
1112-1121
2006
BRENDA: Homo sapiens
Textmining: Mus sp., Mus musculus, Cytomegalovirus
Wang, D.; Worsham, D.N.; Pan, D.
Co-expression of MGMT(P140K) and alpha-L-iduronidase in primary hepatocytes from mucopolysaccharidosis type I mice enables efficient selection with metabolic correction
J. Gene Med.
10
249-259
2008
BRENDA: Mus musculus
Textmining: animal, Metazoa, Mus sp., Spleen focus-forming virus
Chen, F.; Vitry, S.; Hocquemiller, M.; Desmaris, N.; Ausseil, J.; Heard, J.M.
Alpha-L-iduronidase transport in neurites
Mol. Genet. Metab.
87
349-358
2006
BRENDA: Homo sapiens
Textmining: Mus sp., Rattus, Lentivirus, Areas
Chung, S.; Ma, X.; Liu, Y.; Lee, D.; Tittiger, M.; Ponder, K.P.
Effect of neonatal administration of a retroviral vector expressing alpha-L-iduronidase upon lysosomal storage in brain and other organs in mucopolysaccharidosis I mice
Mol. Genet. Metab.
90
181-192
2007
BRENDA: Homo sapiens
Textmining: Mus sp., Canis lupus familiaris
Wraith, J.E.; Beck, M.; Lane, R.; van der Ploeg, A.; Shapiro, E.; Xue, Y.; Kakkis, E.D.; Guffon, N.
Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase)
Pediatrics
120
e37-e46
2007
Homo sapiens
Downing, W.L.; Galpin, J.D.; Clemens, S.; Lauzon, S.M.; Samuels, A.L.; Pidkowich, M.S.; Clarke, L.A.; Kermode, A.R.
Synthesis of enzymatically active human alpha-L-iduronidase in Arabidopsis cgl (complex glycan-deficient) seeds
Plant Biotechnol. J.
4
169-181
2006
BRENDA: Homo sapiens
Textmining: Arabidopsis, Arabidopsis thaliana, Phaseolus vulgaris, Streptomyces, plant
Kermode, A.R.; Zeng, Y.; Hu, X.; Lauson, S.; Abrams, S.R.; He, X.
Ectopic expression of a conifer Abscisic Acid Insensitive3 transcription factor induces high-level synthesis of recombinant human alpha-L-iduronidase in transgenic tobacco leaves
Plant Mol. Biol.
63
763-776
2007
BRENDA: Homo sapiens (P35475), Homo sapiens
Textmining: Nicotiana tabacum, Phaseolus vulgaris, plant
Tsukimura, T.; Tajima, Y.; Kawashima, I.; Fukushige, T.; Kanzaki, T.; Kanekura, T.; Ikekita, M.; Sugawara, K.; Suzuki, T.; Togawa, T.; Sakuraba, H.
Uptake of a recombinant human alpha-L-iduronidase (laronidase) by cultured fibroblasts and osteoblasts
Biol. Pharm. Bull.
31
1691-1695
2008
BRENDA: Homo sapiens
Textmining: Mus musculus
Pastores, G.M.
Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I
Expert. Opin. Biol. Ther.
8
1003-1009
2008
Homo sapiens
Sugawara, K.; Saito, S.; Ohno, K.; Okuyama, T.; Sakuraba, H.
Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I
J. Hum. Genet.
53
467-474
2008
Homo sapiens
Wynn, R.F.; Mercer, J.; Page, J.; Carr, T.F.; Jones, S.; Wraith, J.E.
Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients
J. Pediatr.
154
135-139
2009
Homo sapiens
Giugliani, R.; Rojas, V.M.; Martins, A.M.; Valadares, E.R.; Clarke, J.T.; Goes, J.E.; Kakkis, E.D.; Worden, M.A.; Sidman, M.; Cox, G.F.
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I
Mol. Genet. Metab.
96
13-19
2009
Homo sapiens
Clarke, L.A.; Wraith, J.E.; Beck, M.; Kolodny, E.H.; Pastores, G.M.; Muenzer, J.; Rapoport, D.M.; Berger, K.I.; Sidman, M.; Kakkis, E.D.; Cox, G.F.
Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I
Pediatrics
123
229-240
2009
Homo sapiens
Kasper, D.C.; Iqbal, F.; Dvorakova, L.; Zeman, J.; Magner, M.; Bodamer, O.; Pollak, A.; Herkner, K.R.; Item, C.B.
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I
Clin. Chim. Acta
411
345-350
2010
Homo sapiens
Boado, R.J.; Hui, E.K.; Lu, J.Z.; Pardridge, W.M.
AGT-181: expression in CHO cells and pharmacokinetics, safety, and plasma iduronidase enzyme activity in Rhesus monkeys
J. Biotechnol.
144
135-141
2009
BRENDA: Homo sapiens
Textmining: Macaca mulatta, Equus caballus
Tylki-Szymanska, A.; Marucha, J.; Jurecka, A.; Syczewska, M.; Czartoryska, B.
Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients
J. Inherit. Metab. Dis.
33
151-157
2010
Homo sapiens
Valayannopoulos, V.; Boddaert, N.; Barbier, V.; Le Merrer, M.; Caillaud, C.; de Lonlay, P.
Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase
Mol. Genet. Metab.
100
20-23
2010
Homo sapiens
Tylki-Szymanska, A.; Rozdzynska, A.; Jurecka, A.; Marucha, J.; Czartoryska, B.
Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase)
Mol. Genet. Metab.
99
10-17
2010
Homo sapiens
Fu, L.; Miao, Y.; Lo, S.; Seto, T.; Sun, S.; Xu, Z.; Clemens, S.; Clarke, L.; Kermode, A.; Jiang, L.
Production and characterization of soluble human lysosomal enzyme ?-iduronidase with high activity from culture media of transgenic tobacco BY-2 cells
Plant Sci.
177
668-675
2009
Homo sapiens
Galpin, J.; Clemens, S.; Kermode, A.
The carboxy-terminal ER-retention motif, SEKDEL, influences the N-linked glycosylation of recombinant human ?-l-iduronidase but has little effect on enzyme activity in seeds of Brassica napus and Nicotiana tabacum
Plant Sci.
178
440-447
2010
Homo sapiens
Sun, L.; Li, C.; Song, X.; Zheng, N.; Zhang, H.; Dong, G.
Three novel alpha-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families
Genet. Mol. Biol.
34
195-200
2011
Homo sapiens
Vite, C.H.; Wang, P.; Patel, R.T.; Walton, R.M.; Walkley, S.U.; Sellers, R.S.; Ellinwood, N.M.; Cheng, A.S.; White, J.T.; ONeill, C.A.; Haskins, M.
Biodistribution and pharmacodynamics of recombinant human alpha-L-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations
Mol. Genet. Metab.
103
268-274
2011
BRENDA: Felis catus, Homo sapiens
Textmining: Metazoa
Holley, R.J.; Deligny, A.; Wei, W.; Watson, H.A.; Ninonuevo, M.R.; Dagaelv, A.; Leary, J.A.; Bigger, B.W.; Kjellen, L.; Merry, C.L.
Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking alpha-L-iduronidase
J. Biol. Chem.
286
37515-37524
2011
Mus sp., Mus musculus
He, X.; Pierce, O.; Haselhorst, T.; von Itzstein, M.; Kolarich, D.; Packer, N.H.; Gloster, T.M.; Vocadlo, D.J.; Qian, Y.; Brooks, D.; Kermode, A.R.
Characterization and downstream mannose phosphorylation of human recombinant alpha-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds
Plant Biotechnol. J.
11
1034-1043
2013
Arabidopsis, Homo sapiens, Cricetulus griseus
Maita, N.; Taniguchi, H.; Sakuraba, H.
Crystallization, X-ray diffraction analysis and SIRAS phasing of human alpha-L-iduronidase
Acta Crystallogr. Sect. F
68
1363-1366
2012
Homo sapiens (P35475)
Lu, F.; Lico, L.; Hung, S.
Synthesis of a fluorogenic substrate for alpha-L-iduronidase
Arkivoc
2013
13-21
2012
Homo sapiens
-
Baldo, G.; Quoos Mayer, F.; Burin, M.; Carrillo-Farga, J.; Matte, U.; Giugliani, R.
Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cells
Cells Tissues Organs
195
323-329
2012
Homo sapiens
Jung, G.; Pabst, M.; Neumann, L.; Berger, A.; Lubec, G.
Characterization of alpha-L-iduronidase (Aldurazyme) and its complexes
J. Proteomics
80
26-33
2013
Homo sapiens
Oussoren, E.; Keulemans, J.; van Diggelen, O.P.; Oemardien, L.F.; Timmermans, R.G.; van der Ploeg, A.T.; Ruijter, G.J.
Residual alpha-L-iduronidase activity in fibroblasts of mild to severe mucopolysaccharidosis type I patients
Mol. Genet. Metab.
109
377-381
2013
Homo sapiens
Ou, L.; Herzog, T.L.; Wilmot, C.M.; Whitley, C.B.
Standardization of alpha-L-iduronidase enzyme assay with Michaelis-Menten kinetics
Mol. Genet. Metab.
111
113-115
2014
Mus musculus, Mus musculus C57BL/6
Maita, N.; Tsukimura, T.; Taniguchi, T.; Saito, S.; Ohno, K.; Taniguchi, H.; Sakuraba, H.
Human alpha-L-iduronidase uses its own N-glycan as a substrate-binding and catalytic module
Proc. Natl. Acad. Sci. USA
110
14628-14633
2013
Homo sapiens
Cheng, W.C.; Lin, C.K.; Li, H.Y.; Chang, Y.C.; Lu, S.J.; Chen, Y.S.; Chang, S.Y.
A combinatorial approach towards the synthesis of non-hydrolysable triazole-iduronic acid hybrid inhibitors of human alpha-L-iduronidase discovery of enzyme stabilizers for the potential treatment of MPSI
Chem. Commun. (Camb.)
54
2647-2650
2018
Homo sapiens (P35475)
Artola, M.; Kuo, C.L.; McMahon, S.A.; Oehler, V.; Hansen, T.; van der Lienden, M.; He, X.; van den Elst, H.; Florea, B.I.; Kermode, A.R.; van der Marel, G.A.; Gloster, T.M.; Codee, J.D.C.; Overkleeft, H.S.; Aerts, J.M.F.G.
New irreversible alpha-L-iduronidase inhibitors and activity-based probes
Chemistry
24
19081-19088
2018
Homo sapiens (P35475), Homo sapiens
Breier, A.C.; Ce, J.; Mezzalira, J.; Daitx, V.V.; Moraes, V.C.; Goldim, M.P.S.; Coelho, J.C.
alpha-L-iduronidase and arylsulfatase B in dried blood spots on filter paper Biochemical parameters and time stability
Clin. Biochem.
50
431-435
2017
Homo sapiens (P35475)
Cardon, F.; Pallisse, R.; Bardor, M.; Caron, A.; Vanier, J.; Ele Ekouna, J.P.; Lerouge, P.; Boitel-Conti, M.; Guillet, M.
Brassica rapa hairy root based expression system leads to the production of highly homogenous and reproducible profiles of recombinant human alpha-L-iduronidase
Plant Biotechnol. J.
17
505-516
2019
BRENDA: Homo sapiens (P35475), Homo sapiens
Textmining: Brassica rapa, Cricetulus griseus, Brassica rapa subsp. rapa
Haskins, ME; Desnick, RJ; DiFerrante, N; Jezyk, PF; Patterson, DF
Beta-glucuronidase deficiency in a dog: a model of human mucopolysaccharidosis VII.
Pediatr Res
18
980-4
1984
Canis lupus familiaris, Homo sapiens, Metazoa, Electron, animal
Herd, JK; Hayhome, B
Alpha-L-iduronidase in human semen.
Lancet
2
206
1976
Homo sapiens
Haskins, ME; Jezyk, PF; Desnick, RJ; McDonough, SK; Patterson, DF
Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I.
Pediatr Res
13
1294-7
1979
Felis catus
Minami, R; Suzuki, M; Kudoh, T; Sato, S; Oyanagi, K
alpha-L-Iduronidase activity in established lymphoblastoid cells from patients with Hurler and Scheie syndromes transformed by Epstein-Barr virus.
Tohoku J Exp Med
122
393-6
1977
Homo sapiens, Human gammaherpesvirus 4
Stareprawo, G; Grimm, U; Machill, G; Knapp, A; Wehnert, M
[Alpha-L-iduronidase activity in fibroblasts of patients with Hurler syndrome]
Acta Biol Med Ger
34
1079-82
1975
Homo sapiens
Sando, GN; Neufeld, EF
Recognition and receptor-mediated uptake of a lysosomal enzyme, alpha-l-iduronidase, by cultured human fibroblasts.
Cell
12
619-27
1977
Homo sapiens
Scott, HS; Guo, XH; Hopwood, JJ; Morris, CP
Structure and sequence of the human alpha-L-iduronidase gene.
Genomics
13
1311-3
1992
Homo sapiens
Anson, DS; Bielicki, J; Hopwood, JJ
Correction of mucopolysaccharidosis type I fibroblasts by retroviral-mediated transfer of the human alpha-L-iduronidase gene.
Hum Gene Ther
3
371-9
1992
Homo sapiens, Mus musculus, Viruses, Cytomegalovirus, Cucumber mosaic virus
Koizumi, T; MacDonald, M; Búcan, M; Hopwood, JJ; Morris, CP; Scott, HS; Gusella, JF; Nadeau, JH
Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.
Mamm Genome
3
23-7
1992
Homo sapiens, Mus musculus, Mus sp., Mus spretus
Ashton, LJ; Brooks, DA; McCourt, PA; Muller, VJ; Clements, PR; Hopwood, JJ
Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients.
Am J Hum Genet
50
787-94
1992
Homo sapiens
Taylor, JA; Gibson, GJ; Brooks, DA; Hopwood, JJ
alpha-L-iduronidase in normal and mucopolysaccharidosis-type-I human skin fibroblasts.
Biochem J
274 ( Pt 1)
263-8
1991
Homo sapiens
Tsvetkova, IV; Karpova, EA; Voznyĭ, IaV; Zolotukhina, TV; Biriukov, VB; Semiachkina, AN
[Use of 4-methylumbelliferryl-alpha-L-iduronide and 4-trifluoromethylumbelliferryl-alpha-L-iduronide for detecting alpha-L-iduronidase deficiencies in human tissue and for rapid prenatal diagnosis of Hurler disease]
Vopr Med Khim
37
74-7
0
Homo sapiens
Tsvetkova, IV; Karpova, EA; Voznyi, YV; Zolotukhina, TV; Biryukov, VV; Semyachkina, AN
Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease.
J Inherit Metab Dis
14
134-9
1991
Homo sapiens
Scott, HS; Anson, DS; Orsborn, AM; Nelson, PV; Clements, PR; Morris, CP; Hopwood, JJ
Human alpha-L-iduronidase: cDNA isolation and expression.
Proc Natl Acad Sci U S A
88
9695-9
1991
Cricetulus griseus, Homo sapiens
Scott, HS; Ashton, LJ; Eyre, HJ; Baker, E; Brooks, DA; Callen, DF; Sutherland, GR; Morris, CP; Hopwood, JJ
Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.
Am J Hum Genet
47
802-7
1990
Homo sapiens
Schuchman, EH; O'Brien, SJ; Desnick, RJ
Assignment of the feline alpha-L-iduronidase gene to chromosome D4.
Genomics
4
442-4
1989
Felis catus, Homo sapiens, animal
Shull, RM; Hastings, NE
Fluorometric assay of alpha-L-iduronidase in serum for detection of affected and carrier animals in a canine model of mucopolysaccharidosis I.
Clin Chem
31
826-7
1985
Canis lupus familiaris, Metazoa, collection
Constantopoulos, G; Shull, RM; Hastings, N; Neufeld, EF
Neurochemical characterization of canine alpha-L-iduronidase deficiency disease (model of human mucopolysaccharidosis I).
J Neurochem
45
1213-7
1985
Homo sapiens, Canis lupus familiaris
Shull, RM; Munger, RJ; Spellacy, E; Hall, CW; Constantopoulos, G; Neufeld, EF
Canine alpha-L-iduronidase deficiency. A model of mucopolysaccharidosis I.
Am J Pathol
109
244-8
1982
Canis lupus familiaris
Spellacy, E; Shull, RM; Constantopoulos, G; Neufeld, EF
A canine model of human alpha-L-iduronidase deficiency.
Proc Natl Acad Sci U S A
80
6091-5
1983
Homo sapiens, Canis lupus familiaris, Metazoa, animal
Fujibayashi, S; Minami, R; Ishikawa, Y; Wagatsuma, K; Nakao, T; Tsugawa, S
Properties of alpha-L-iduronidase in cultured skin fibroblasts from alpha-L-iduronidase-deficient patients.
Hum Genet
65
268-72
1984
Homo sapiens
Schuchman, EH; Guzman, NA; Takada, G; Desnick, RJ
Human alpha-L-iduronidase. II. Comparative biochemical and immunologic properties of the purified low and high uptake forms.
Enzyme
31
166-75
1984
Homo sapiens
Kleijer, WJ; Hensing-Wolffers, GM; Thompson, EJ; Niermeijer, MF
The Hurler syndrome: detection of patients and heterozygotes using a microassay for alpha-L-iduronidase in fibroblasts.
Clin Chim Acta
116
47-54
1981
Homo sapiens
Bunge, S; Kleijer, WJ; Steglich, C; Beck, M; Zuther, C; Morris, CP; Schwinger, E; Hopwood, JJ; Scott, HS; Gal, A
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.
Hum Mol Genet
3
861-6
1994
Homo sapiens, insertion sequences
Salvetti, A; Moullier, P; Cornet, V; Brooks, D; Hopwood, JJ; Danos, O; Heard, JM
In vivo delivery of human alpha-L-iduronidase in mice implanted with neo-organs.
Hum Gene Ther
6
1153-9
1995
Homo sapiens, Mus sp., Mus musculus, Metazoa
Fairbairn, LJ; Lashford, LS; Spooncer, E; McDermott, RH; Lebens, G; Arrand, JE; Arrand, JR; Bellantuono, I; Holt, R; Hatton, CE; Cooper, A; Besley, GT; Wraith, JE; Anson, DS; Hopwood, JJ; Dexter, TM
Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow.
Proc Natl Acad Sci U S A
93
2025-30
1996
Homo sapiens
Shull, RM; Lu, X; McEntee, MF; Bright, RM; Pepper, KA; Kohn, DB
Myoblast gene therapy in canine mucopolysaccharidosis. I: Abrogation by an immune response to alpha-L-iduronidase.
Hum Gene Ther
7
1595-603
1996
Canis lupus familiaris
Clarke, LA; Russell, CS; Pownall, S; Warrington, CL; Borowski, A; Dimmick, JE; Toone, J; Jirik, FR
Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene.
Hum Mol Genet
6
503-11
1997
Mus musculus, Mus sp., animal
Zhao, KW; Faull, KF; Kakkis, ED; Neufeld, EF
Carbohydrate structures of recombinant human alpha-L-iduronidase secreted by Chinese hamster ovary cells.
J Biol Chem
272
22758-65
1997
Homo sapiens, Cricetulus griseus
Huang, MM; Wong, A; Yu, X; Kakkis, E; Kohn, DB
Retrovirus-mediated transfer of the human alpha-L-iduronidase cDNA into human hematopoietic progenitor cells leads to correction in trans of Hurler fibroblasts.
Gene Ther
4
1150-9
1997
Homo sapiens, Moloney murine leukemia virus
Lee-Chen, GJ; Wang, CK; Huang, SF; Day, KR
Human alpha-L-iduronidase (IDUA) gene: correlation of polymorphic DNA haplotype and IDUA activity in Chinese population.
Proc Natl Sci Counc Repub China B
22
31-8
1998
Homo sapiens
Lee-Chen, GJ; Wang, TR; Hwu, WL; Day, KR; Wang, CK
Human alpha-L-iduronidase (IDUA) gene: apparent recombination in intron 2 by haplotype analysis in a Taiwanese population.
J Formos Med Assoc
97
465-70
1998
Homo sapiens
Lutzko, C; Kruth, S; Abrams-Ogg, AC; Lau, K; Li, L; Clark, BR; Ruedy, C; Nanji, S; Foster, R; Kohn, D; Shull, R; Dubé, ID
Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency.
Blood
93
1895-905
1999
Canis lupus familiaris, Homo sapiens, Equus caballus, Bos taurus
Lutzko, C; Omori, F; Abrams-Ogg, AC; Shull, R; Li, L; Lau, K; Ruedy, C; Nanji, S; Gartley, C; Dobson, H; Foster, R; Kruth, S; Dubé, ID
Gene therapy for canine alpha-L-iduronidase deficiency: in utero adoptive transfer of genetically corrected hematopoietic progenitors results in engraftment but not amelioration of disease.
Hum Gene Ther
10
1521-32
1999
Canis lupus familiaris, Homo sapiens
Teng, YN; Wang, TR; Hwu, WL; Lin, SP; Lee-Chen, GJ
Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S.
Clin Genet
57
131-6
2000
Homo sapiens
Turner, CT; Hopwood, JJ; Brooks, DA
Enzyme replacement therapy in mucopolysaccharidosis I: altered distribution and targeting of alpha-L-iduronidase in immunized rats.
Mol Genet Metab
69
277-85
2000
Rattus, Homo sapiens, animal
Li, P; Wood, T; Thompson, JN
Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human alpha-L-iduronidase (IDUA) gene.
Genet Med
4
420-6
0
Homo sapiens
Wraith, JE; Clarke, LA; Beck, M; Kolodny, EH; Pastores, GM; Muenzer, J; Rapoport, DM; Berger, KI; Swiedler, SJ; Kakkis, ED; Braakman, T; Chadbourne, E; Walton-Bowen, K; Cox, GF
Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).
J Pediatr
144
581-8
2004
Homo sapiens
Hartung, SD; Frandsen, JL; Pan, D; Koniar, BL; Graupman, P; Gunther, R; Low, WC; Whitley, CB; McIvor, RS
Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene.
Mol Ther
9
866-75
2004
Adeno-associated virus, Homo sapiens, Metazoa, Mus musculus, Mus sp.
Lee, IJ; Hwang, SH; Jeon, BH; Song, SM; Kim, JS; Paik, KH; Kwon, EK; Jin, DK
Mutational analysis of the alpha-L-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations.
Clin Genet
66
575-6
2004
Homo sapiens
Sardón, O; García Pardos, C; Mintegui, J; Pérez Ruiz, E; Coll, MJ; Chabás, A; Olivé, T; Ruiz Benito, A
[Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase]
An Pediatr (Barc)
63
61-7
2005
Homo sapiens
Sifuentes, M; Doroshow, R; Hoft, R; Mason, G; Walot, I; Diament, M; Okazaki, S; Huff, K; Cox, GF; Swiedler, SJ; Kakkis, ED
A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years.
Mol Genet Metab
90
171-80
2007
Homo sapiens
Ciron, C; Cressant, A; Roux, F; Raoul, S; Cherel, Y; Hantraye, P; Deglon, N; Schwartz, B; Barkats, M; Heard, JM; Tardieu, M; Moullier, P; Colle, MA
AAV1-, AAV2- and AAV5-Mediated human alpha-Iduronidase Gene Transfer In The Brain of Nonhuman Primate: Vector Diffusion and Bio Distribution.
Hum Gene Ther
2009
Primates, Homo sapiens, Canis lupus familiaris, Adeno-associated virus
Ciron, C; Cressant, A; Roux, F; Raoul, S; Cherel, Y; Hantraye, P; Déglon, N; Schwartz, B; Barkats, M; Heard, JM; Tardieu, M; Moullier, P; Colle, MA
Human alpha-iduronidase gene transfer mediated by adeno-associated virus types 1, 2, and 5 in the brain of nonhuman primates: vector diffusion and biodistribution.
Hum Gene Ther
20
350-60
2009
Primates, Homo sapiens, Adeno-associated virus, Canis lupus familiaris, Macaca
Dierenfeld, AD; McEntee, MF; Vogler, CA; Vite, CH; Chen, AH; Passage, M; Le, S; Shah, S; Jens, JK; Snella, EM; Kline, KL; Parkes, JD; Ware, WA; Moran, LE; Fales-Williams, AJ; Wengert, JA; Whitley, RD; Betts, DM; Boal, AM; Riedesel, EA; Gross, W; Ellinwood, NM; Dickson, PI
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I.
Sci Transl Med
2
60ra89
2010
Canis lupus familiaris, Homo sapiens, Metazoa
Furukawa, Y; Hamaguchi, A; Nozaki, I; Iizuka, T; Sasagawa, T; Shima, Y; Demura, S; Murakami, H; Kawahara, N; Okuyama, T; Iwasa, K; Yamada, M
Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-L-iduronidase gene.
J Neurol Sci
302
121-5
2011
Argynnis pandora, Homo sapiens
Chkioua, L; Khedhiri, S; Turkia, HB; Tcheng, R; Froissart, R; Chahed, H; Ferchichi, S; Ben Dridi, MF; Vianey-Saban, C; Laradi, S; Miled, A
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
Diagn Pathol
6
47
2011
Homo sapiens
Chen, A; Vogler, C; McEntee, M; Hanson, S; Ellinwood, NM; Jens, J; Snella, E; Passage, M; Le, S; Guerra, C; Dickson, P
Glycosaminoglycan storage in neuroanatomical regions of mucopolysaccharidosis I dogs following intrathecal recombinant human iduronidase.
APMIS
119
513-21
2011
Homo sapiens, Canis lupus familiaris, Hippocampus
Tippin, BL; Troitskaya, L; Kan, SH; Todd, AK; Le, SQ; Dickson, PI
Biochemical characterization of fluorescent-labeled recombinant human alpha-L-iduronidase in vitro.
Biotechnol Appl Biochem
58
391-6
0
Homo sapiens
Baldo, G; Mayer, FQ; Martinelli, B; Meyer, FS; Burin, M; Meurer, L; Tavares, AM; Giugliani, R; Matte, U
Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice.
Cytotherapy
14
860-7
2012
Mus sp.
Boado, RJ; Hui, EK; Lu, JZ; Pardridge, WM
Glycemic control and chronic dosing of rhesus monkeys with a fusion protein of iduronidase and a monoclonal antibody against the human insulin receptor.
Drug Metab Dispos
40
2021-5
2012
Equus caballus, Homo sapiens, Macaca mulatta
El-Amouri, SS; Dai, M; Han, JF; Brady, RO; Pan, D
Normalization and improvement of CNS deficits in mice with Hurler syndrome after long-term peripheral delivery of BBB-targeted iduronidase.
Mol Ther
22
2028-37
2014
Mus sp.
Castorina, M; Antuzzi, D; Richards, SM; Cox, GF; Xue, Y
Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy.
Clin Exp Obstet Gynecol
42
108-13
2015
Homo sapiens
Dickson, PI; Kaitila, I; Harmatz, P; Mlikotic, A; Chen, AH; Victoroff, A; Passage, MB; Madden, J; Le, SQ; Naylor, DE; ,
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
Mol Genet Metab
116
69-74
0
Stenosis, Homo sapiens
Al-Sannaa, NA; Bay, L; Barbouth, DS; Benhayoun, Y; Goizet, C; Guelbert, N; Jones, SA; Kyosen, SO; Martins, AM; Phornphutkul, C; Reig, C; Pleat, R; Fallet, S; Ivanovska Holder, I
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.
Orphanet J Rare Dis
10
131
2015
Homo sapiens
Dickson, PI; Kaitila, I; Harmatz, P; Mlikotic, A; Chen, AH; Victoroff, A; Passage, MB; Madden, J; Le, SQ; Naylor, DE; ,
Data from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I.
Data Brief
5
71-6
2015
Stenosis
Dualibi, AP; Martins, AM; Moreira, GA; de Azevedo, MF; Fujita, RR; Pignatari, SS
The impact of laronidase treatment in otolaryngological manifestations of patients with mucopolysaccharidosis.
Braz J Otorhinolaryngol
2015
Homo sapiens
Rosenberg, J; Jhaveri, P; Kelbel, T
Laronidase desensitization during stem cell transplant in a child with Hurler syndrome.
Ann Allergy Asthma Immunol
116
377-8
2016
Homo sapiens
Horovitz, DD; Acosta, AX; Giugliani, R; Hlavat, A; Hlavat, K; Tchan, MC; Lopes Barth, A; Cardoso, L; Embiruu de Arajo Leo, EK; Esposito, AC; Kyosen, SO; De Souza, CF; Martins, AM
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.
Orphanet J Rare Dis
11
51
2016
Homo sapiens
Visigalli, I; Delai, S; Ferro, F; Cecere, F; Vezzoli, M; Sanvito, F; Chanut, F; Benedicenti, F; Spinozzi, G; Wynn, R; Calabria, A; Naldini, L; Montini, E; Cristofori, P; Biffi, A
Preclinical testing of the safety and tolerability of LV-mediated above normal alpha-L-iduronidase expression in murine and human hematopoietic cells using toxicology and biodistribution GLP studies.
Hum Gene Ther
2016
Homo sapiens, Mus musculus
Laraway, S; Mercer, J; Jameson, E; Ashworth, J; Hensman, P; Jones, SA
Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I.
J Pediatr
178
219-226.e1
2016
Homo sapiens
Pineda, T; Marie, S; Gonzalez, J; Garca, AL; Acosta, A; Morales, M; Correa, LN; Vivas, R; Escobar, X; Protzel, A; Barba, M; Ospina, S; Corredor, C; Mansilla, S; Velasco, HM
Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.
Mol Genet Metab Rep
1
468-473
2014
Homo sapiens
Boado, RJ; Pardridge, WM
Brain and Organ Uptake in the Rhesus Monkey in Vivo of Recombinant Iduronidase Compared to an Insulin Receptor Antibody-Iduronidase Fusion Protein.
Mol Pharm
14
1271-1277
2017
Macaca mulatta, Homo sapiens, Equus caballus
Prez-Lpez, J; Morales-Conejo, M; Lpez-Rodrguez, M; Hermida-Ameijeiras, ; Molt-Abad, M
Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis.
Mol Genet Metab
121
138-149
2017
Homo sapiens
Belur, LR; Temme, A; Podetz-Pedersen, KM; Riedl, M; Vulchanova, L; Robinson, N; Hanson, LR; Kozarsky, KF; Orchard, PJ; Frey, WH; Low, WC; McIvor, RS
Intranasal Adeno-Associated Virus Mediated Gene Delivery and Expression of Human Iduronidase in the Central Nervous System: A Noninvasive and Effective Approach for Prevention of Neurologic Disease in Mucopolysaccharidosis Type I.
Hum Gene Ther
28
576-587
2017
Homo sapiens, Adeno-associated virus
Pierce, OM; McNair, GR; He, X; Kajiura, H; Fujiyama, K; Kermode, AR
N-glycan structures and downstream mannose-phosphorylation of plant recombinant human alpha-L-iduronidase: toward development of enzyme replacement therapy for mucopolysaccharidosis I.
Plant Mol Biol
95
593-606
2017
Arabidopsis, Arabidopsis thaliana, Homo sapiens, plant
Sampayo-Cordero, M; Miguel-Huguet, B; Pardo-Mateos, A; Molt-Abad, M; Muoz-Delgado, C; Prez-Lpez, J
Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases.
Mol Genet Metab
123
69-75
2018
Homo sapiens
Hordeaux, J; Hinderer, C; Goode, T; Katz, N; Buza, EL; Bell, P; Calcedo, R; Richman, LK; Wilson, JM
Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Human Alpha-L-Iduronidase in Rhesus Macaques.
Mol Ther Methods Clin Dev
10
79-88
2018
Macaca mulatta, Homo sapiens, Adeno-associated virus 9
Hordeaux, J; Hinderer, C; Buza, EL; Louboutin, JP; Jahan, T; Bell, P; Chichester, JA; Tarantal, AF; Wilson, JM
Safe and Sustained Expression of Human Iduronidase After Intrathecal Administration of Adeno-Associated Virus Serotype 9 in Infant Rhesus Monkeys.
Hum Gene Ther
30
957-966
2019
Macaca mulatta, Homo sapiens, Adeno-associated virus
Kyosen, SO; Toma, L; Nader, HB; Braga, MC; Pereira, VG; Canossa, S; Pesquero, JB; D'Almeida, V; Martins, AM
CASE SERIES OF PATIENTS UNDER BIWEEKLY TREATMENT WITH LARONIDASE: A REPORT OF A SINGLE CENTER EXPERIENCE.
Rev Paul Pediatr
2019
Homo sapiens
Lund, TC; Miller, WP; Liao, AY; Tolar, J; Shanley, R; Pasquali, M; Sando, N; Bigger, BW; Polgreen, LE; Orchard, PJ
Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes.
Sci Rep
9
14105
2019
Homo sapiens
Pardridge, WM; Boado, RJ; Giugliani, R; Schmidt, M
Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I.
BioDrugs
32
169-176
2018
Homo sapiens
Hall, CW; Robbins, AR; Krag, SS
Preliminary characterization of a Chinese hamster ovary cell glycosylation mutant isolated by screening for low intracellular lysosomal enzyme activity.
Mol Cell Biochem
72
35-45
0
Cricetulus griseus
Robbins, AR; Myerowitz, R
The mannose 6-phosphate receptor of Chinese hamster ovary cells. Compartmentalization of acid hydrolases in mutants with altered receptors.
J Biol Chem
256
10623-7
1981
Homo sapiens
Norgard-Sumnicht, KE; Roux, L; Toomre, DK; Manzi, A; Freeze, HH; Varki, A
Unusual anionic N-linked oligosaccharides from bovine lung.
J Biol Chem
270
27634-45
1995
Bos taurus
Aronovich, EL; Bell, JB; Belur, LR; Gunther, R; Koniar, B; Erickson, DC; Schachern, PA; Matise, I; McIvor, RS; Whitley, CB; Hackett, PB
Prolonged expression of a lysosomal enzyme in mouse liver after Sleeping Beauty transposon-mediated gene delivery: implications for non-viral gene therapy of mucopolysaccharidoses.
J Gene Med
9
403-15
2007
transposons, Homo sapiens, plasmids
Campbell, CH; Rome, LH
Coated vesicles from rat liver and calf brain contain lysosomal enzymes bound to mannose 6-phosphate receptors.
J Biol Chem
258
13347-52
1983
Rattus
Stramm, L; Haskins, M; Desnick, RJ; Aguirre, G
Disease expression in cultured pigment epithelium. Feline mucopolysaccharidosis VI.
Invest Ophthalmol Vis Sci
26
182-92
1985
Felis catus
Fraga, M; Bruxel, F; Diel, D; de Carvalho, TG; Perez, CA; Magalhes-Paniago, R; Malachias, ; Oliveira, MC; Matte, U; Teixeira, HF
PEGylated cationic nanoemulsions can efficiently bind and transfect pIDUA in a mucopolysaccharidosis type I murine model.
J Control Release
209
37-46
2015
Mus musculus, Mus sp.
Casalone, R; Minelli, A; Butti, G; Gaetani, P; Silvani, V; Solero, CL; Danesino, C
Gene dosage effect in cells with monosomy of chromosome 22 derived from human meningiomas.
Acta Neurochir Suppl (Wien)
43
114-7
1988
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
Homo sapiens, Mus sp.
Mello, AS; Burin, MG; Michellin, K; Viapiana, M; Giugliani, R; Coelho, JC; Bauer, ME
Epstein-Barr virus-induced transformation of B cells for the diagnosis of genetic metabolic disorders--enumerative conditions for cryopreservation.
Cell Prolif
39
29-36
2006
Homo sapiens, Human gammaherpesvirus 4, Transformation
Nishioka, J; Mizushima, T; Ono, K
Treatment of mucopolysaccharidosis: clinical and biochemical aspects of leucocyte transfusion as compared with plasma infusion in patients with Hurler's and Scheie's syndromes.
Clin Orthop Relat Res
194-203
1979
Homo sapiens
Haskins, ME; Jezyk, PF; Desnick, RJ; McDonough, SK; Patterson, DF
Mucopolysaccharidosis in a domestic short-haired cat--a disease distinct from that seen in the Siamese cat.
J Am Vet Med Assoc
175
384-7
1979
Felis catus
Menon, KP; Tieu, PT; Neufeld, EF
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I.
Genomics
14
763-8
1992
Canis lupus familiaris, Homo sapiens
Rummelt, V; Meyer, HJ; Naumann, GO
Light and electron microscopy of the cornea in systemic mucopolysaccharidosis type I-S (Scheie's syndrome).
Cornea
11
86-92
1992
Electron, Homo sapiens
Constantopoulos, G; Scott, JA; Shull, RM
Corneal opacity in canine MPS I. Changes after bone marrow transplantation.
Invest Ophthalmol Vis Sci
30
1802-7
1989
Canis lupus familiaris
Shull, RM; Hastings, NE; Selcer, RR; Jones, JB; Smith, JR; Cullen, WC; Constantopoulos, G
Bone marrow transplantation in canine mucopolysaccharidosis I. Effects within the central nervous system.
J Clin Invest
79
435-43
1987
Canis lupus familiaris, Homo sapiens
Schmidt, H; Ullrich, K; von Lengerke, HJ; Kleine, M; Brämswig, J
Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome).
Pediatr Radiol
17
409-14
1987
Homo sapiens, Valgus
Shull, RM; Breider, MA; Constantopoulos, GC
Long-term neurological effects of bone marrow transplantation in a canine lysosomal storage disease.
Pediatr Res
24
347-52
1988
Canis lupus familiaris
Akle, C; McColl, I; Dean, M; Adinolfi, M; Brown, S; Fensom, AH; Marsh, J; Welsh, K
Transplantation of amniotic epithelial membranes in patients with mucopolysaccharidoses.
Exp Clin Immunogenet
2
43-8
1985
Homo sapiens
Shull, RM; Helman, RG; Spellacy, E; Constantopoulos, G; Munger, RJ; Neufeld, EF
Morphologic and biochemical studies of canine mucopolysaccharidosis I.
Am J Pathol
114
487-95
1984
Canis lupus familiaris, Homo sapiens, Felis catus
Crow, J; Gibbs, DA; Cozens, W; Spellacy, E; Watts, RW
Biochemical and histopathological studies on patients with mucopolysaccharidoses, two of whom had been treated by fibroblast transplantation.
J Clin Pathol
36
415-30
1983
Homo sapiens
Haskins, ME; McGrath, JT
Meningiomas in young cats with mucopolysaccharidosis I.
J Neuropathol Exp Neurol
42
664-70
1983
Felis catus
Hug, G; Soukup, S; Chuck, G; Ryan, M
Antenatal diagnosis of mucopolysaccharidosis type I (Hurler's disease) is not possible by electron microscopy of uncultured amniotic fluid cells.
J Med Genet
21
359-63
1984
Electron, Homo sapiens
Fortuin, JJ; Kleijer, WJ
Hybridization studies of fibroblasts from Hurler, Scheie, and Hurler/Scheie compound patients: support for the hypothesis of allelic mutants.
Hum Genet
53
155-9
1980
Homo sapiens
Shull, RM; Kakkis, ED; McEntee, MF; Kania, SA; Jonas, AJ; Neufeld, EF
Enzyme replacement in a canine model of Hurler syndrome.
Proc Natl Acad Sci U S A
91
12937-41
1994
Canis lupus familiaris, Homo sapiens, Cricetulus griseus, Metazoa, Electron
Clarke, LA; Nelson, PV; Warrington, CL; Morris, CP; Hopwood, JJ; Scott, HS
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
Hum Mutat
3
275-82
1994
Homo sapiens
Hopwood, JJ; Vellodi, A; Scott, HS; Morris, CP; Litjens, T; Clements, PR; Brooks, DA; Cooper, A; Wraith, JE
Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype.
J Inherit Metab Dis
16
1024-33
1993
Homo sapiens
Bach, G; Moskowitz, SM; Tieu, PT; Matynia, A; Neufeld, EF
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.
Am J Hum Genet
53
330-8
1993
Homo sapiens
Kakkis, ED; McEntee, MF; Schmidtchen, A; Neufeld, EF; Ward, DA; Gompf, RE; Kania, S; Bedolla, C; Chien, SL; Shull, RM
Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I.
Biochem Mol Med
58
156-67
1996
Canis lupus familiaris, Homo sapiens
Gatti, R; DiNatale, P; Villani, GR; Filocamo, M; Muller, V; Guo, XH; Nelson, PV; Scott, HS; Hopwood, JJ
Mutations among Italian mucopolysaccharidosis type I patients.
J Inherit Metab Dis
20
803-6
1997
Homo sapiens
Peters, C; Shapiro, EG; Anderson, J; Henslee-Downey, PJ; Klemperer, MR; Cowan, MJ; Saunders, EF; deAlarcon, PA; Twist, C; Nachman, JB; Hale, GA; Harris, RE; Rozans, MK; Kurtzberg, J; Grayson, GH; Williams, TE; Lenarsky, C; Wagner, JE; Krivit, W
Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group.
Blood
91
2601-8
1998
Homo sapiens
Russell, C; Hendson, G; Jevon, G; Matlock, T; Yu, J; Aklujkar, M; Ng, KY; Clarke, LA
Murine MPS I: insights into the pathogenesis of Hurler syndrome.
Clin Genet
53
349-61
1998
Mus musculus, Homo sapiens
Voskoboeva, EY; Krasnopolskaya, XD; Mirenburg, TV; Weber, B; Hopwood, JJ
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.
Mol Genet Metab
65
174-80
1998
Homo sapiens
Hubel, A; Stroncek, D; Pan, D; Whitley, CB; McCullough, J
Mobilization and transduction of peripheral blood progenitor cells in patients with mucopolysaccharidosis I.
J Hematother
7
505-14
1998
Homo sapiens, Mus musculus
Fleming, DR; Henslee-Downey, PJ; Ciocci, G; Romond, EH; Marciniak, E; Munn, RK; Thompson, JS
The use of partially HLA-mismatched donors for allogeneic transplantation in patients with mucopolysaccharidosis-I.
Pediatr Transplant
2
299-304
1998
Homo sapiens
He, X; Li, CM; Simonaro, CM; Wan, Q; Haskins, ME; Desnick, RJ; Schuchman, EH
Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats.
Mol Genet Metab
67
106-12
1999
Felis catus, Homo sapiens, Canis lupus familiaris, Mus musculus, Mus sp., Metazoa
Kakkis, ED; Schuchman, E; He, X; Wan, Q; Kania, S; Wiemelt, S; Hasson, CW; O'Malley, T; Weil, MA; Aguirre, GA; Brown, DE; Haskins, ME
Enzyme replacement therapy in feline mucopolysaccharidosis I.
Mol Genet Metab
72
199-208
2001
Felis catus
Wiedemann, M; Trueb, B
The mouse Fgfrl1 gene coding for a novel FGF receptor-like protein.
Biochim Biophys Acta
1520
247-50
2001
Mus musculus
Baxter, MA; Wynn, RF; Deakin, JA; Bellantuono, I; Edington, KG; Cooper, A; Besley, GT; Church, HJ; Wraith, JE; Carr, TF; Fairbairn, LJ
Retrovirally mediated correction of bone marrow-derived mesenchymal stem cells from patients with mucopolysaccharidosis type I.
Blood
99
1857-9
2002
Homo sapiens
Meertens, L; Zhao, Y; Rosic-Kablar, S; Li, L; Chan, K; Dobson, H; Gartley, C; Lutzko, C; Hopwood, J; Kohn, D; Kruth, S; Hough, MR; Dubé, ID
In utero injection of alpha-L-iduronidase-carrying retrovirus in canine mucopolysaccharidosis type I: infection of multiple tissues and neonatal gene expression.
Hum Gene Ther
13
1809-20
2002
Canis lupus familiaris, Homo sapiens
Matte, U; Yogalingam, G; Brooks, D; Leistner, S; Schwartz, I; Lima, L; Norato, DY; Brum, JM; Beesley, C; Winchester, B; Giugliani, R; Hopwood, JJ
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
Mol Genet Metab
78
37-43
2003
Homo sapiens
Kakavanos, R; Turner, CT; Hopwood, JJ; Kakkis, ED; Brooks, DA
Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I.
Lancet
361
1608-13
2003
Homo sapiens
Zheng, Y; Rozengurt, N; Ryazantsev, S; Kohn, DB; Satake, N; Neufeld, EF
Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow.
Mol Genet Metab
79
233-44
2003
Electron, Homo sapiens, Mus musculus, Mus sp.
Meirelles, Lda S; Nardi, NB
Murine marrow-derived mesenchymal stem cell: isolation, in vitro expansion, and characterization.
Br J Haematol
123
702-11
2003
Mus sp.
Barsoum, SC; Milgram, W; Mackay, W; Coblentz, C; Delaney, KH; Kwiecien, JM; Kruth, SA; Chang, PL
Delivery of recombinant gene product to canine brain with the use of microencapsulation.
J Lab Clin Med
142
399-413
2003
Canis lupus familiaris, Homo sapiens, Rodentia, Mus musculus, Metazoa
Kakkis, E; Lester, T; Yang, R; Tanaka, C; Anand, V; Lemontt, J; Peinovich, M; Passage, M
Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I.
Proc Natl Acad Sci U S A
101
829-34
2004
Canis lupus familiaris, Homo sapiens
Staba, SL; Escolar, ML; Poe, M; Kim, Y; Martin, PL; Szabolcs, P; Allison-Thacker, J; Wood, S; Wenger, DA; Rubinstein, P; Hopwood, JJ; Krivit, W; Kurtzberg, J
Cord-blood transplants from unrelated donors in patients with Hurler's syndrome.
N Engl J Med
350
1960-9
2004
Homo sapiens
Desmaris, N; Verot, L; Puech, JP; Caillaud, C; Vanier, MT; Heard, JM
Prevention of neuropathology in the mouse model of Hurler syndrome.
Ann Neurol
56
68-76
2004
Homo sapiens, Mus musculus, Mus sp., adeno-associated virus 2, Areas
Kakkis, E; McEntee, M; Vogler, C; Le, S; Levy, B; Belichenko, P; Mobley, W; Dickson, P; Hanson, S; Passage, M
Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I.
Mol Genet Metab
83
163-74
0
Canis lupus familiaris, Homo sapiens
Liu, Y; Xu, L; Hennig, AK; Kovacs, A; Fu, A; Chung, S; Lee, D; Wang, B; Herati, RS; Mosinger Ogilvie, J; Cai, SR; Parker Ponder, K
Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice.
Mol Ther
11
35-47
2005
Mus sp., Canis lupus familiaris, Metazoa
Fuller, M; Brooks, DA; Evangelista, M; Hein, LK; Hopwood, JJ; Meikle, PJ
Prediction of neuropathology in mucopolysaccharidosis I patients.
Mol Genet Metab
84
18-24
2005
Homo sapiens
Di Domenico, C; Villani, GR; Di Napoli, D; Reyero, EG; Lombardo, A; Naldini, L; Di Natale, P
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector.
Hum Gene Ther
16
81-90
2005
Mus musculus, Homo sapiens, Mus sp., Metazoa
Kobayashi, H; Carbonaro, D; Pepper, K; Petersen, D; Ge, S; Jackson, H; Shimada, H; Moats, R; Kohn, DB
Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector.
Mol Ther
11
776-89
2005
Mus sp., Homo sapiens, Mus musculus
Ketudat Cairns, JR; Keeratichamroen, S; Sukcharoen, S; Champattanachai, V; Ngiwsara, L; Lirdprapamongkol, K; Liammongkolkul, S; Srisomsap, C; Surarit, R; Wasant, P; Svasti, J
The molecular basis of mucopolysaccharidosis type I in two Thai patients.
Southeast Asian J Trop Med Public Health
36
1308-12
2005
Homo sapiens
Watson, G; Bastacky, J; Belichenko, P; Buddhikot, M; Jungles, S; Vellard, M; Mobley, WC; Kakkis, E
Intrathecal administration of AAV vectors for the treatment of lysosomal storage in the brains of MPS I mice.
Gene Ther
13
917-25
2006
Mus sp., Adeno-associated virus
Ponder, KP; Wang, B; Wang, P; Ma, X; Herati, R; Wang, B; Cullen, K; O'Donnell, P; Ellinwood, NM; Traas, A; Primeau, TM; Haskins, ME
Mucopolysaccharidosis I cats mount a cytotoxic T lymphocyte response after neonatal gene therapy that can be blocked with CTLA4-Ig.
Mol Ther
14
5-13
2006
Canis lupus familiaris, Mus sp., Felis catus, Metazoa
Ciron, C; Desmaris, N; Colle, MA; Raoul, S; Joussemet, B; Vérot, L; Ausseil, J; Froissart, R; Roux, F; Chérel, Y; Ferry, N; Lajat, Y; Schwartz, B; Vanier, MT; Maire, I; Tardieu, M; Moullier, P; Heard, JM
Gene therapy of the brain in the dog model of Hurler's syndrome.
Ann Neurol
60
204-13
2006
Homo sapiens, Canis lupus familiaris, Mus sp., Adeno-associated virus, Areas
Tokic, V; Barisic, I; Huzjak, N; Petkovic, G; Fumic, K; Paschke, E
Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I.
Eur J Pediatr
166
727-32
2007
Homo sapiens
Schachern, PA; Cureoglu, S; Tsuprun, V; Paparella, MM; Whitley, CB
Age-related functional and histopathological changes of the ear in the MPS I mouse.
Int J Pediatr Otorhinolaryngol
71
197-203
2007
Mus musculus, Mus sp., Electron
Ma, X; Liu, Y; Tittiger, M; Hennig, A; Kovacs, A; Popelka, S; Wang, B; Herati, R; Bigg, M; Ponder, KP
Improvements in mucopolysaccharidosis I mice after adult retroviral vector-mediated gene therapy with immunomodulation.
Mol Ther
15
889-902
2007
Mus sp., Mus musculus
Ellinwood, NM; Colle, MA; Weil, MA; Casal, ML; Vite, CH; Wiemelt, S; Hasson, CW; O'Malley, TM; He, X; Prociuk, U; Verot, L; Melniczek, JR; Lannon, A; Aguirre, GD; Knox, VW; Evans, SM; Vanier, MT; Schuchman, EH; Walkley, SU; Haskins, ME
Bone marrow transplantation for feline mucopolysaccharidosis I.
Mol Genet Metab
91
239-50
2007
Felis catus, Metazoa, animal
Traas, AM; Wang, P; Ma, X; Tittiger, M; Schaller, L; O'donnell, P; Sleeper, MM; Vite, C; Herati, R; Aguirre, GD; Haskins, M; Ponder, KP
Correction of clinical manifestations of canine mucopolysaccharidosis I with neonatal retroviral vector gene therapy.
Mol Ther
15
1423-31
2007
Canis lupus familiaris, Homo sapiens
Arora, RS; Mercer, J; Thornley, M; Tylee, K; Wraith, JE
Enzyme replacement therapy in 12 patients with MPS I-H/S with homozygous p.Leu490Pro mutation.
J Inherit Metab Dis
30
821
2007
Homo sapiens
Boado, RJ; Zhang, Y; Zhang, Y; Xia, CF; Wang, Y; Pardridge, WM
Genetic engineering of a lysosomal enzyme fusion protein for targeted delivery across the human blood-brain barrier.
Biotechnol Bioeng
99
475-84
2008
Homo sapiens, Macaca mulatta, Equus caballus
Lücke, T; Das, AM; Hartmann, H; Sykora, KW; Donnerstag, F; Schmid-Ott, G; Grigull, L
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study.
Dev Med Child Neurol
49
693-6
2007
Homo sapiens
Hirth, A; Berg, A; Greve, G
Successful treatment of severe heart failure in an infant with Hurler syndrome.
J Inherit Metab Dis
30
820
2007
Homo sapiens
Pitz, S; Ogun, O; Bajbouj, M; Arash, L; Schulze-Frenking, G; Beck, M
Ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy: a 4-year experience.
Arch Ophthalmol
125
1353-6
2007
Homo sapiens
Herati, RS; Ma, X; Tittiger, M; Ohlemiller, KK; Kovacs, A; Ponder, KP
Improved retroviral vector design results in sustained expression after adult gene therapy in mucopolysaccharidosis I mice.
J Gene Med
10
972-82
2008
Mus sp., Homo sapiens, Canis lupus familiaris, Metazoa
Dickson, P; Peinovich, M; McEntee, M; Lester, T; Le, S; Krieger, A; Manuel, H; Jabagat, C; Passage, M; Kakkis, ED
Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I.
J Clin Invest
118
2868-76
2008
Canis lupus familiaris, Homo sapiens
Aronovich, EL; Bell, JB; Khan, SA; Belur, LR; Gunther, R; Koniar, B; Schachern, PA; Parker, JB; Carlson, CS; Whitley, CB; McIvor, RS; Gupta, P; Hackett, PB
Systemic Correction of Storage Disease in MPS I NOD/SCID Mice Using the Sleeping Beauty Transposon System.
Mol Ther
2009
transposons, Mus sp., Homo sapiens, plasmids
Vazna, A; Beesley, C; Berna, L; Stolnaja, L; Myskova, H; Bouckova, M; Vlaskova, H; Poupetova, H; Zeman, J; Magner, M; Hlavata, A; Winchester, B; Hrebicek, M; Dvorakova, L
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Am J Med Genet A
149A
965-74
2009
Homo sapiens, Cricetulus griseus
Passage, MB; Krieger, AW; Peinovich, MC; Lester, T; Le, SQ; Dickson, PI; Kakkis, ED
Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogs.
J Inherit Metab Dis
2009
Canis lupus familiaris, Homo sapiens
Wang, D; Shukla, C; Liu, X; Schoeb, TR; Clarke, LA; Bedwell, DM; Keeling, KM
Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
Mol Genet Metab
2009
Mus sp., Homo sapiens, Mus musculus, Electron, animal
Metcalf, JA; Ma, X; Linders, B; Wu, S; Schambach, A; Ohlemiller, KK; Kovacs, A; Bigg, M; He, L; Tollefsen, DM; Ponder, KP
A Self-inactivating gamma-Retroviral Vector Reduces Manifestations of Mucopolysaccharidosis I in Mice.
Mol Ther
2009
Mus sp., Homo sapiens, Canis lupus familiaris
Wang, D; Zhang, W; Kalfa, TA; Grabowski, G; Davies, S; Malik, P; Pan, D
Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome.
Proc Natl Acad Sci U S A
106
19958-63
2009
Mus sp., Homo sapiens, Mus musculus
Gabrielli, O; Clarke, LA; Bruni, S; Coppa, GV
Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up.
Pediatrics
125
e183-7
2010
Homo sapiens
Aldenhoven, M; de Koning, TJ; Verheijen, FW; Prinsen, BH; Wijburg, FA; van der Ploeg, AT; de Sain-van der Velden, MG; Boelens, J
Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients.
Biol Blood Marrow Transplant
16
701-4
2010
Homo sapiens, Areas
Dickson, PI; Hanson, S; McEntee, MF; Vite, CH; Vogler, CA; Mlikotic, A; Chen, AH; Ponder, KP; Haskins, ME; Tippin, BL; Le, SQ; Passage, MB; Guerra, C; Dierenfeld, A; Jens, J; Snella, E; Kan, SH; Ellinwood, NM
Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I.
Mol Genet Metab
101
115-22
0
Homo sapiens, Canis lupus familiaris, Metazoa
Heinecke, KA; Peacock, BN; Blazar, BR; Tolar, J; Seyfried, TN
Lipid Composition of Whole Brain and Cerebellum in Hurler Syndrome (MPS IH) Mice.
Neurochem Res
2011
Mus sp., Homo sapiens, Mus musculus
Wolf, DA; Lenander, AW; Nan, Z; Belur, LR; Whitley, CB; Gupta, P; Low, WC; McIvor, RS
Direct gene transfer to the CNS prevents emergence of neurologic disease in a murine model of mucopolysaccharidosis type I.
Neurobiol Dis
2011
Areas, Mus musculus, Homo sapiens, Mus sp., Adeno-associated virus
Wang, X; Shi, H; Zhang, W; Qiu, Z; Meng, Y; Yao, F; Wei, M
[Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type.]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
28
147-151
2011
Homo sapiens
Sobrin, L; Green, T; Sim, X; Jensen, RA; Tai, ES; Tay, WT; Wang, JJ; Mitchell, P; Sandholm, N; Liu, Y; Hietala, K; Iyengar, SK; , ; Brooks, M; Buraczynska, M; Van Zuydam, N; Smith, AV; Gudnason, V; Doney, AS; Morris, AD; Leese, GP; Palmer, CN; , ; Swaroop, A; Taylor, HA; Wilson, JG; Penman, A; Chen, CJ; Groop, PH; Saw, SM; Aung, T; Klein, BE; Rotter, JI; Siscovick, DS; Cotch, MF; Klein, R; Daly, MJ; Wong, TY
Candidate Gene Association Study for Diabetic Retinopathy in Persons with Type 2 Diabetes: the Candidate Gene Association Resource (CARe).
Invest Ophthalmol Vis Sci
2011
Homo sapiens
Dickson, PI; Ellinwood, NM; Brown, JR; Witt, RG; Le, SQ; Passage, MB; Vera, MU; Crawford, BE
Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I.
Mol Genet Metab
2012
Canis lupus familiaris, Homo sapiens, Metazoa
He, X; Haselhorst, T; von Itzstein, M; Kolarich, D; Packer, NH; Kermode, AR
Influence of an ER-retention signal on the N-glycosylation of recombinant human ?-L-iduronidase generated in seeds of Arabidopsis.
Plant Mol Biol
79
157-69
2012
Homo sapiens, Arabidopsis thaliana, Phaseolus vulgaris, Arabidopsis, plant
Baldo, G; Mayer, FQ; Martinelli, B; Dilda, A; Meyer, F; Ponder, KP; Giugliani, R; Matte, U
Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice.
Behav Brain Res
233
169-75
2012
Mus sp., Mus musculus
Boado, RJ; Hui, EK; Lu, JZ; Pardridge, WM
IgG-enzyme fusion protein: pharmacokinetics and anti-drug antibody response in rhesus monkeys.
Bioconjug Chem
24
97-104
2013
Homo sapiens, Macaca mulatta, Primates, Equus caballus, animal
Baldo, G; Mayer, FQ; Martinelli, BZ; de Carvalho, TG; Meyer, FS; de Oliveira, PG; Meurer, L; Tavares, A; Matte, U; Giugliani, R
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice.
Mol Genet Metab
109
33-40
2013
Mus sp., Homo sapiens
Ou, L; Herzog, T; Koniar, BL; Gunther, R; Whitley, CB
High-dose enzyme replacement therapy in murine Hurler syndrome.
Mol Genet Metab
2013
Mus sp., Mus musculus
Aronovich, EL; Hall, BC; Bell, JB; McIvor, RS; Hackett, PB
Quantitative analysis of ?-L-iduronidase expression in immunocompetent mice treated with the Sleeping Beauty transposon system.
PLoS One
8
e78161
2013
Mus sp., Homo sapiens, plasmids, animal, transposons
Wang, RY; Aminian, A; McEntee, MF; Kan, SH; Simonaro, CM; Lamanna, WC; Lawrence, R; Ellinwood, NM; Guerra, C; Le, SQ; Dickson, PI; Esko, JD
Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I.
Mol Genet Metab
112
286-93
2014
Canis lupus familiaris, Homo sapiens
Baldo, G; Lorenzini, DM; Santos, DS; Mayer, FQ; Vitry, S; Bigou, S; Heard, JM; Matte, U; Giugliani, R
Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice.
Mol Genet Metab
114
138-45
2015
Hippocampus, Mus musculus, Mus sp.
Provenzale, JM; Nestrasil, I; Chen, S; Kan, SH; Le, SQ; Jens, JK; Snella, EM; Vondrak, KN; Yee, JK; Vite, CH; Elashoff, D; Duan, L; Wang, RY; Ellinwood, NM; Guzman, MA; Shapiro, EG; Dickson, PI
Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis I.
Exp Neurol
273
1-10
2015
Canis lupus familiaris, Homo sapiens
Kim, C; Kwak, MJ; Cho, SY; Ko, AR; Rheey, J; Kwon, JY; Chung, Y; Jin, DK
Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome.
Orphanet J Rare Dis
10
121
2015
Homo sapiens, Mus musculus, Mus sp., animal
Azario, I; Pievani, A; Del Priore, F; Antolini, L; Santi, L; Corsi, A; Cardinale, L; Sawamoto, K; Kubaski, F; Gentner, B; Bernardo, ME; Valsecchi, MG; Riminucci, M; Tomatsu, S; Aiuti, A; Biondi, A; Serafini, M
Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I.
Sci Rep
7
9473
2017
Metazoa
Le, SQ; Kan, SH; Clarke, D; Sanghez, V; Egeland, M; Vondrak, KN; Doherty, TM; Vera, MU; Iacovino, M; Cooper, JD; Sands, MS; Dickson, PI
A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I.
Mol Ther Methods Clin Dev
8
42-51
2018
Homo sapiens, Mus sp.
Mack, HG; Symons, RCA; de Jong, G
Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.
Am J Ophthalmol Case Rep
9
1-6
2018
Homo sapiens
Kamranjam, M; Alaei, M
Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations.
Genet Test Mol Biomarkers
23
515-522
2019
Homo sapiens
Ahmed, A; Ou, L; Rudser, K; Shapiro, E; Eisengart, JB; King, K; Chen, A; Dickson, P; Whitley, CB
A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation.
Mol Genet Metab Rep
20
100484
2019
Homo sapiens
Gomez-Ospina, N; Scharenberg, SG; Mostrel, N; Bak, RO; Mantri, S; Quadros, RM; Gurumurthy, CB; Lee, C; Bao, G; Suarez, CJ; Khan, S; Sawamoto, K; Tomatsu, S; Raj, N; Attardi, LD; Aurelian, L; Porteus, MH
Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I.
Nat Commun
10
4045
2019
Homo sapiens
Vera, MU; Le, SQ; Victoroff, A; Passage, MB; Brown, JR; Crawford, BE; Polgreen, LE; Chen, AH; Dickson, PI
Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I.
Mol Genet Metab
129
91-97
2020
Homo sapiens
Lito, S; Burda, P; Baumgartner, M; Sloan-Bna, F; Tncos, Z; Kobolk, J; Dinnys, A; Krause, KH; Marteyn, A
Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease.
Stem Cell Res
41
101604
2019
Homo sapiens
Karpishchenko, SA; Dolgov, OI; Bykova, TA; Rodneva, YA; Borovkova, AS; Ovechkina, VN; Osipova, AA; Utimisheva, ES; Moiseev, IS; Zubarovskaya, LS; Afanas'ev, BV
[Rhinosinusitis in Hurler syndrome patients requiring hematopoietic stem cells transplantation].
Vestn Otorinolaringol
84
48-54
2019
Homo sapiens
Mansour, TA; Woolard, KD; Vernau, KL; Ancona, DM; Thomasy, SM; Sebbag, L; Moore, BA; Knipe, MF; Seada, HA; Cowan, TM; Aguilar, M; Titus Brown, C; Bannasch, DL
Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog.
Sci Rep
10
6558
2020
insertion sequences
Belur, LR; Romero, M; Lee, J; Podetz-Pedersen, KM; Nan, Z; Riedl, MS; Vulchanova, L; Kitto, KF; Fairbanks, CA; Kozarsky, KF; Orchard, PJ; Frey, WH; Low, WC; McIvor, RS
Comparative Effectiveness of Intracerebroventricular, Intrathecal, and Intranasal Routes of AAV9 Vector Administration for Genetic Therapy of Neurologic Disease in Murine Mucopolysaccharidosis Type I.
Front Mol Neurosci
14
618360
2021
Homo sapiens, Mus sp.
Galpin JasonD;Clemens Sabine;Kermode AllisonR
The carboxy-terminal ER-retention motif, SEKDEL, influences the N-linked glycosylation of recombinant human ?-l-iduronidase but has little effect on enzyme activity in seeds of Brassica napus and Nicotiana tabacum
Plant science : an international journal of experimental plant biology
178
440-447
2010
Brassica napus, Homo sapiens, Nicotiana tabacum, Phaseolus vulgaris, plant
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
Hopwood, JJ; Muller, VJ
Selective depolymerisation of dermatan sulfate: production of radiolabelled substrates for alpha-L-iduronidase, sulfoiduronate sulfatase, and beta-D-glucuronidase.
Carbohydr Res
122
227-39
1983
Homo sapiens
Hinek, A; Wilson, SE
Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.
Am J Pathol
156
925-38
2000
Stenosis
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
Isemura, M; Kosaka, H; Ikenaka, T; Kido, R; Yoshimura, T
Fluorometric measurement of urinary alpha-L-iduronidase activity.
J Biochem (Tokyo)
84
627-32
1978
Homo sapiens
Orii, T; Sukegawa, K; Minami, R; Matsuura, Y; Tsugawa, S
Atypical Hurler syndrome without alpha-L-iduronidase deficiency.
Tohoku J Exp Med
120
113-23
1976
Homo sapiens
Rome, LH; Weissmann, B; Neufeld, EF
Direct demonstration of binding of a lysosomal enzyme, alpha-L-iduronidase, to receptors on cultured fibroblasts.
Proc Natl Acad Sci U S A
76
2331-4
1979
Bos taurus, Homo sapiens
Thompson, JN
Substrates for the assay of alpha-L-iduronidase.
Clin Chim Acta
89
435-46
1978
Homo sapiens
Omura, K; Higami, S; Tada, K
alpha-L-iduronidase activity in leukocytes: diagnosis of homozygotes and heterozygotes of the Hurler syndrome.
Eur J Pediatr
122
103-5
1976
Homo sapiens
Wappner, RS; Brandt, IK
Hurler syndrome: alpha-L-iduronidase activity in leukocytes as a method for heterozygote detection.
Pediatr Res
10
629-32
1976
Homo sapiens
Dulaney, JT; Milunsky, A; Moser, HW
Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes.
Clin Chim Acta
69
305-10
1976
Homo sapiens
Winters, PR; Harrod, MJ; Molenich-Heetred, SA; Kirkpatrick, J; Rosenberg, RN
alpha-L-iduronidase deficiency and possible Hurler-Scheie genetic compound. Clinical, pathologic, and biochemical findings.
Neurology
26
1003-7
1976
Homo sapiens
Scott, HS; Litjens, T; Nelson, PV; Brooks, DA; Hopwood, JJ; Morris, CP
alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
Hum Mutat
1
333-9
1992
Homo sapiens
MacDonald, ME; Scott, HS; Whaley, WL; Pohl, T; Wasmuth, JJ; Lehrach, H; Morris, CP; Frischauf, AM; Hopwood, JJ; Gusella, JF
Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene.
Somat Cell Mol Genet
17
421-5
1991
Homo sapiens
Den Tandt, WR; Scharpe, S
Characteristics of leukocyte and plasma methylumbelliferyl-alpha-L-iduronide iduronidase.
Biochem Med Metab Biol
41
18-24
1989
Homo sapiens
Whitley, CB; Gorlin, RJ; Krivit, W
A nonpathologic allele (IW) for low alpha-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome.
Am J Med Genet
28
233-43
1987
Homo sapiens
Schuchman, EH; Desnick, RJ
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.
J Clin Invest
81
98-105
1988
Oryctolagus cuniculus
Roubicek, M; Gehler, J; Spranger, J
The clinical spectrum of alpha-L-iduronidase deficiency.
Am J Med Genet
20
471-81
1985
Homo sapiens
Muller, VJ; Hopwood, JJ
alpha-L-Iduronidase deficiency in mucopolysaccharidosis type I against a radiolabelled sulfated disaccharide substrate derived from dermatan sulfate.
Clin Genet
26
414-21
1984
Homo sapiens
Minami, R; Watanabe, Y; Kudoh, T; Oyanagi, K; Nakao, T
Fluorometric measurement of alpha-L-iduronidase activity using 4-methylumbelliferyl-alpha-L-iduronide.
Tohoku J Exp Med
130
381-4
1980
Homo sapiens
Hopwood, JJ; Muller, V
Diagnostic enzymology of alpha-L-iduronidase with special reference to a sulphated disaccharide derived from heparin.
Clin Sci (Lond)
62
193-201
1982
Homo sapiens
Tieu, PT; Bach, G; Matynia, A; Hwang, M; Neufeld, EF
Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
Hum Mutat
6
55-9
1995
Homo sapiens
Menon, KP; Neufeld, EF
Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.
Cell Mol Biol (Noisy-le-grand)
40
999-1005
1994
Homo sapiens
Hague, C; Masada, RI; Starr, C
Structural determination of oligosaccharides from recombinant iduronidase released with peptide N-glycanase F using fluorophore-assisted carbohydrate electrophoresis.
Electrophoresis
19
2612-20
1998
Cricetulus griseus
Lee-Chen, GJ; Lin, SP; Tang, YF; Chin, YW
Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.
Clin Genet
56
66-70
1999
Homo sapiens
Hartung, SD; Reddy, RG; Whitley, CB; McIvor, RS
Enzymatic correction and cross-correction of mucopolysaccharidosis type I fibroblasts by adeno-associated virus-mediated transduction of the alpha-L-iduronidase gene.
Hum Gene Ther
10
2163-72
1999
Homo sapiens, Adeno-associated virus
Ruth, L; Eisenberg, D; Neufeld, EF
alpha-L-iduronidase forms semi-crystalline spherulites with amyloid-like properties.
Acta Crystallogr D Biol Crystallogr
56 ( Pt 4)
524-8
2000
Homo sapiens
Keeling, KM; Brooks, DA; Hopwood, JJ; Li, P; Thompson, JN; Bedwell, DM
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
Hum Mol Genet
10
291-9
2001
Homo sapiens
Lee-Chen, GJ; Lin, SP; Chen, IS; Chang, JH; Yang, CW; Chin, YW
Mucopolysaccharidosis type I: Identification and characterization of mutations affecting alpha-L-iduronidase activity.
J Formos Med Assoc
101
425-8
2002
Homo sapiens
Brooks, DA
Alpha-L-iduronidase and enzyme replacement therapy for mucopolysaccharidosis I.
Expert Opin Biol Ther
2
967-76
2002
Homo sapiens, animal
Wraith, EJ; Hopwood, JJ; Fuller, M; Meikle, PJ; Brooks, DA
Laronidase treatment of mucopolysaccharidosis I.
BioDrugs
19
1-7
2005
Homo sapiens
Wraith, JE
The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I.
Expert Opin Pharmacother
6
489-506
2005
Homo sapiens
Conway, J; Dyack, S; Crooks, BN; Fernandez, CV
Mixed donor chimerism and low level iduronidase expression may be adequate for neurodevelopmental protection in Hurler Syndrome.
J Pediatr
147
106-8
2005
Homo sapiens
Thomas, JA; Jacobs, S; Kierstein, J; Van Hove, J
Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome.
J Inherit Metab Dis
29
762
2006
Homo sapiens
Dou, W; Peng, C; Zheng, JK; Gu, XF
[A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
24
136-9
2007
Homo sapiens
Chkioua, L; Khedhiri, S; Jaidane, Z; Ferchichi, S; Habib, S; Froissart, R; Bonnet, V; Chaabouni, M; Dandana, A; Jrad, T; Limem, H; Maire, I; Abdelhedi, M; Laradi, S
[Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families.]
Arch Pediatr
14
1183-1189
2007
Homo sapiens
Amr, K; Katoury, A; Abdel-Hamid, M; Bassiouni, R; Ibrahim, M; Fateen, E
Mutational Analysis of the alpha-L-Iduronidase Gene in Three Egyptian Families: Identification of Three Novel Mutations and Five Novel Polymorphisms.
Genet Test Mol Biomarkers
2009
Homo sapiens
Harada, H; Uchiwa, H; Nakamura, M; Ohno, S; Morita, H; Katoh, A; Yoshino, M; Ikeda, H
Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I.
Mol Genet Metab
103
215-9
2011
Homo sapiens
Jameson, E; Jones, S; Wraith, JE
Enzyme replacement therapy with laronidase (Aldurazyme()) for treating mucopolysaccharidosis type I.
Cochrane Database Syst Rev
CD009354
2013
Homo sapiens
Harada, H; Niiyama, H; Katoh, A; Ikeda, H
Laronidase Replacement Therapy and Left Ventricular Function in Mucopolysaccharidosis I.
JIMD Rep
2014
Homo sapiens
Xue, Y; Richards, SM; Mahmood, A; Cox, GF
Effect of anti-laronidase antibodies on efficacy and safety of laronidase enzyme replacement therapy for MPS I: A comprehensive meta-analysis of pooled data from multiple studies.
Mol Genet Metab
117
419-26
2016
Homo sapiens, Canis lupus familiaris
Jameson, E; Jones, S; Remmington, T
Enzyme replacement therapy with laronidase (Aldurazyme()) for treating mucopolysaccharidosis type I.
Cochrane Database Syst Rev
4
CD009354
2016
Homo sapiens
Giugliani, R; Vieira, TA; Carvalho, CG; Muoz-Rojas, MV; Semyachkina, AN; Voinova, VY; Richards, S; Cox, GF; Xue, Y
Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.
Mol Genet Metab Rep
10
61-66
2017
Homo sapiens
Hsu, YH; Liu, RS; Lin, WL; Yuh, YS; Lin, SP; Wong, TT
Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease.
Orphanet J Rare Dis
12
109
2017
Homo sapiens
Dornelles, AD; Artigals, O; da Silva, AA; Ardila, DLV; Alegra, T; Pereira, TV; Vairo, FPE; Schwartz, IVD
Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.
PLoS One
12
e0184065
2017
Homo sapiens
Da Ros, T; Ostric, A; Andreola, F; Filocamo, M; Pietrogrande, M; Corsolini, F; Stroppiano, M; Bruni, S; Serafino, A; Fiorito, S
Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I.
Nanoscale
10
657-665
2018
Homo sapiens
Jameson, E; Jones, S; Remmington, T
Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I.
Cochrane Database Syst Rev
6
CD009354
2019
Homo sapiens
Polgreen, LE; Lund, TC; Braunlin, E; Tolar, J; Miller, BS; Fung, E; Whitley, CB; Eisengart, JB; Northrop, E; Rudser, K; Miller, WP; Orchard, PJ
Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation.
Pediatr Res
2019
Homo sapiens
Pagliardini, V; Pagliardini, S; Corrado, L; Lucenti, A; Panigati, L; Bersano, E; Servo, S; Cantello, R; D'Alfonso, S; Mazzini, L
Chitotriosidase and lysosomal enzymes as potential biomarkers of disease progression in amyotrophic lateral sclerosis: a survey clinic-based study.
J Neurol Sci
348
245-50
2015
Homo sapiens
Weber, W; Kehrer, T; Gressner, AM; Stuhlsatz, HW; Greiling, H
Changes in the catalytic activities of proteoglycan-degrading lysosomal enzymes in parenchymal and non-parenchymal liver cells and in serum during the development of experimental liver fibrosis.
J Clin Chem Clin Biochem
21
287-93
1983
Rattus
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
Sarrazin, S; Wilson, B; Sly, WS; Tor, Y; Esko, JD
Guanidinylated Neomycin Mediates Heparan Sulfate-dependent Transport of Active Enzymes to Lysosomes.
Mol Ther
2010
Homo sapiens
Stramm, LE; Haskins, ME; Aguirre, GD
Retinal pigment epithelial glycosaminoglycan metabolism: intracellular versus extracellular pathways. In vitro studies in normal and diseased cells.
Invest Ophthalmol Vis Sci
30
2118-31
1989
Felis catus
Stattin, K; Lind, L; Elmsthl, S; Wolk, A; Lemming, EW; Melhus, H; Michalsson, K; Byberg, L
Physical activity is associated with a large number of cardiovascular-specific proteins: Cross-sectional analyses in two independent cohorts.
Eur J Prev Cardiol
2047487319868033
2019
Homo sapiens
Bunge, S; Clements, PR; Byers, S; Kleijer, WJ; Brooks, DA; Hopwood, JJ
Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.
Biochim Biophys Acta
1407
249-56
1998
Homo sapiens
Scott, HS; Litjens, T; Hopwood, JJ; Morris, CP
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
Hum Mutat
1
103-8
1992
Homo sapiens
Taylor, HR; Hollows, FC; Hopwood, JJ; Robertson, EF
Report of a mucopolysaccharidosis occurring in Australian aborigines.
J Med Genet
15
455-61
1978
Homo sapiens
Germain, DP
[Enzyme replacement therapies for lysosomal storage disorders.]
Med Sci (Paris)
21
77-83
2005
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
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
Dai, M; Lin, Y; El-Amouri, SS; Kohls, M; Pan, D
Comprehensive evaluation of blood-brain barrier-forming micro-vasculatures: Reference and marker genes with cellular composition.
PLoS One
13
e0197379
2018
Bean rugose mosaic virus, Mus sp.
de Mello, AS; Provin, F; Michelin-Tireli, K; Camelier, MV; Coelho, JC
Feasibility of using cryopreserved lymphoblastoid cells to diagnose some lysosomal storage diseases.
Cell Prolif
43
164-9
2010
Homo sapiens, Human gammaherpesvirus 4, Transformation
Dos Santos, PP; Logan, RW
Fucosidosis in a native-born Briton.
J Clin Pathol
30
278-83
1977
Homo sapiens
Ikeno, T; Minami, R; Wagatsuma, K; Fujibayashi, S; Nakao, T; Abo, K; Tsugawa, S; Taniguchi, S; Takasago, Y
Prenatal diagnosis of Hurler's syndrome--biochemical studies on the affected fetus.
Hum Genet
59
353-9
1981
Homo sapiens
Hopwood, JJ; Muller, V
Biochemical discrimination of Hurler and Scheie syndromes.
Clin Sci (Lond)
57
265-72
1979
Homo sapiens
Constantopoulos, G; Dekaban, AS
Chemical definition of the mucopolysaccharidoses.
Clin Chim Acta
59
321-36
1975
Homo sapiens
Kovarik, J; Vormittag, W; Gebhart, W; Ruthner, U; Lubec, G; Molzer, B
[Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)]
Wien Klin Wochenschr
90
839-44
1978
Electron
Tremblay, M; Dube, I; Gagne, R
[Corneal changes in Scheie disease. (Mucopolysaccharidosis type I S) (author's transl)]
J Fr Ophtalmol
2
193-7
1979
Electron, Stenosis
Dekaban, AS; Constantopoulos, G; Herman, MM; Steusing, JK
Mucopolysaccharidosis type V. (Scheie syndrome). A postmortem study by multidisciplinary techniques with emphasis on the brain.
Arch Pathol Lab Med
100
237-45
1976
Homo sapiens, Electron
Scott, HS; Nelson, PV; Cooper, A; Wraith, JE; Hopwood, JJ; Morris, CP
Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele.
Hum Genet
88
701-2
1992
Homo sapiens
Keith, O; Scully, C; Weidmann, GM
Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency).
Oral Surg Oral Med Oral Pathol
70
70-4
1990
Homo sapiens
Walkley, SU; Haskins, ME; Shull, RM
Alterations in neuron morphology in mucopolysaccharidosis type I. A Golgi study.
Acta Neuropathol (Berl)
75
611-20
1988
Homo sapiens, animal
Stephan, MJ; Stevens, EL; Wenstrup, RJ; Greenberg, CR; Gritter, HL; Hodges, GF; Guller, B
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy.
Am J Dis Child
143
782-4
1989
Homo sapiens
Watts, RW; Spellacy, E; Adams, JH
Neuropathological and clinical correlations in Hurler disease.
J Inherit Metab Dis
9
261-72
1986
Homo sapiens
Hobbs, JR; Hugh-Jones, K; Barrett, AJ; Byrom, N; Chambers, D; Henry, K; James, DC; Lucas, CF; Rogers, TR; Benson, PF; Tansley, LR; Patrick, AD; Mossman, J; Young, EP
Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation.
Lancet
2
709-12
1981
Homo sapiens
Gibbs, DA; Spellacy, E; Tompkins, R; Watts, RW; Mowbray, JF
A clinical trial of fibroblast transplantation for the treatment of mucopolysaccharidoses.
J Inherit Metab Dis
6
62-81
1983
Homo sapiens
Mossman, J; Patrick, AD; Fensom, AH; Tansley, LR; Benson, PF; Der Kaloustian, VM; Dudin, G
Correct prenatal diagnosis of a Hurler fetus where amniotic fluid cell cultures were of maternal origin.
Prenat Diagn
1
121-4
1981
Homo sapiens
Karson, EM; Neufeld, EF; Sando, GN
p-Isothiocyanatophenyl 6-phospho-alpha-D-mannopyranoside coupled to albumin. A model compound recognized by the fibroblast lysosomal enzyme uptake system. 2. Biological properties.
Biochemistry
19
3856-60
1980
Homo sapiens, Bos taurus, Rodentia
Little, E; Lee, AS
Generation of a mammalian cell line deficient in glucose-regulated protein stress induction through targeted ribozyme driven by a stress-inducible promoter.
J Biol Chem
270
9526-34
1995
Homo sapiens
Le Merrer, M; Rousseau, F; Legeai-Mallet, L; Landais, JC; Pelet, A; Bonaventure, J; Sanak, M; Weissenbach, J; Stoll, C; Munnich, A
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.
Nat Genet
6
318-21
1994
Homo sapiens, Theta
Anson, DS; Occhiodoro, T
Transcriptional activity of the CD45 gene promoter in retroviral vector constructs.
Biochim Biophys Acta
1219
81-8
1994
Homo sapiens, Mus musculus
Whitley, CB; Belani, KG; Chang, PN; Summers, CG; Blazar, BR; Tsai, MY; Latchaw, RE; Ramsay, NK; Kersey, JH
Long-term outcome of Hurler syndrome following bone marrow transplantation.
Am J Med Genet
46
209-18
1993
Homo sapiens
Scott, HS; Bunge, S; Gal, A; Clarke, LA; Morris, CP; Hopwood, JJ
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
Hum Mutat
6
288-302
1995
Homo sapiens
Moullier, P; Salvetti, A; Bohl, D; Danos, O; Heard, JM
[Gene therapy in lysosomal diseases]
C R Seances Soc Biol Fil
190
45-51
1996
Homo sapiens, animal
Fairbairn, LJ; Lashford, LS; Spooncer, E; McDermott, RH; Lebens, G; Arrand, JE; Arrand, JR; Bellantuono, I; Holt, R; Hatton, CE; Cooper, A; Besley, GT; Wraith, JE; Anson, DS; Hopwood, JJ; Dexter, TM
Towards gene therapy of Hurler syndrome.
Cas Lek Cesk
136
27-31
1997
Homo sapiens
Lee-Chen, GJ; Wang, TR
Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families.
J Med Genet
34
939-41
1997
Homo sapiens
Hubel, A; Norman, J; Darr, TB
Cryobiophysical characteristics of genetically modified hematopoietic progenitor cells.
Cryobiology
38
140-53
1999
Homo sapiens
Alif, N; Hess, K; Straczek, J; Sebbar, S; N'Bou, A; Nabet, P; Dousset, B
Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.
Ann Hum Genet
63 ( Pt 1)
9-16
1999
Homo sapiens
Pan, D; Aronovich, E; McIvor, RS; Whitley, CB
Retroviral vector design studies toward hematopoietic stem cell gene therapy for mucopolysaccharidosis type I.
Gene Ther
7
1875-83
2000
Homo sapiens, Mus musculus
Kakkis, ED; Muenzer, J; Tiller, GE; Waber, L; Belmont, J; Passage, M; Izykowski, B; Phillips, J; Doroshow, R; Walot, I; Hoft, R; Neufeld, EF
Enzyme-replacement therapy in mucopolysaccharidosis I.
N Engl J Med
344
182-8
2001
Homo sapiens
Wraith, JE
Enzyme replacement therapy in mucopolysaccharidosis type I: progress and emerging difficulties.
J Inherit Metab Dis
24
245-50
2001
Homo sapiens, Canis lupus familiaris
Bassyouni, HT; Afifi, HH; el-Awadi, MK; Meguid, NA
Mucopolysaccharidosis type I: clinical and biochemical study.
East Mediterr Health J
6
359-66
0
Homo sapiens
Beesley, CE; Meaney, CA; Greenland, G; Adams, V; Vellodi, A; Young, EP; Winchester, BG
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
Hum Genet
109
503-11
2001
Homo sapiens
Gudiño, MA; Campistol, J; Chavez, B; Conill, J; Hernández, S; Vilaseca, MA
Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets.
J Child Neurol
17
149-51
2002
Homo sapiens
Grewal, SS; Krivit, W; Defor, TE; Shapiro, EG; Orchard, PJ; Abel, SL; Lockman, LA; Ziegler, RS; Dusenbery, KE; Peters, C
Outcome of second hematopoietic cell transplantation in Hurler syndrome.
Bone Marrow Transplant
29
491-6
2002
Homo sapiens
Di Natale, P; Di Domenico, C; Villani, GR; Lombardo, A; Follenzi, A; Naldini, L
In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors.
Eur J Biochem
269
2764-71
2002
Homo sapiens
Glaros, EN; Turner, CT; Parkinson, EJ; Hopwood, JJ; Brooks, DA
Immune response to enzyme replacement therapy: single epitope control of antigen distribution from circulation.
Mol Genet Metab
77
127-35
0
Rattus, Homo sapiens
Viestenz, A; Shin, YS; Viestenz, A; Naumann, GO
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]
Klin Monatsbl Augenheilkd
219
745-8
2002
Chondrichthyes, Homo sapiens
Menéndez-Sainz, C; Zaldívar-Muñoz, C; González-Quevedo, A
[Mucopolysaccharidosis type I in the Cuban population]
Rev Neurol
37
525-8
0
Homo sapiens
Fuller, M; Meikle, PJ; Hopwood, JJ
Glycosaminoglycan degradation fragments in mucopolysaccharidosis I.
Glycobiology
14
443-50
2004
Homo sapiens
Grewal, SS; Wynn, R; Abdenur, JE; Burton, BK; Gharib, M; Haase, C; Hayashi, RJ; Shenoy, S; Sillence, D; Tiller, GE; Dudek, ME; van Royen-Kerkhof, A; Wraith, JE; Woodard, P; Young, GA; Wulffraat, N; Whitley, CB; Peters, C
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome.
Genet Med
7
143-6
2005
Homo sapiens
Miebach, E
Enzyme replacement therapy in mucopolysaccharidosis type I.
Acta Paediatr Suppl
94
58-60; discussion 57
2005
Homo sapiens
Osborn, MJ; Panoskaltsis-Mortari, A; McElmurry, RT; Bell, SK; Vignali, DA; Ryan, MD; Wilber, AC; McIvor, RS; Tolar, J; Blazar, BR
A picornaviral 2A-like sequence-based tricistronic vector allowing for high-level therapeutic gene expression coupled to a dual-reporter system.
Mol Ther
12
569-74
2005
Homo sapiens, picornaviridae
Bianco, AC; Larsen, PR
Cellular and structural biology of the deiodinases.
Thyroid
15
777-86
2005
vertebrata
Kakavanos, R; Lehn, P; Callebaut, I; Meikle, PJ; Parkinson-Lawrence, EJ; Hopwood, JJ; Brooks, DA
Common antigenicity for two glycosidases.
FEBS Lett
580
87-92
2006
Homo sapiens
Braunlin, EA; Berry, JM; Whitley, CB
Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I.
Am J Cardiol
98
416-8
2006
Homo sapiens
Dickson, P; McEntee, M; Vogler, C; Le, S; Levy, B; Peinovich, M; Hanson, S; Passage, M; Kakkis, E
Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid.
Mol Genet Metab
91
61-8
2007
Homo sapiens, Canis lupus familiaris
Soni, S; Hente, M; Breslin, N; Hersh, J; Whitley, C; Cheerva, A; Bertolone, S
Pre-stem cell transplantation enzyme replacement therapy in Hurler syndrome does not lead to significant antibody formation or delayed recovery of the endogenous enzyme post-transplant: a case report.
Pediatr Transplant
11
563-7
2007
Homo sapiens
Cox-Brinkman, J; Timmermans, RG; Wijburg, FA; Donker, WE; van de Ploeg, AT; Aerts, JM; Hollak, CE
Home treatment with enzyme replacement therapy for mucopolysaccharidosis type I is feasible and safe.
J Inherit Metab Dis
30
984
2007
Homo sapiens
Tolar, J; Grewal, SS; Bjoraker, KJ; Whitley, CB; Shapiro, EG; Charnas, L; Orchard, PJ
Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome.
Bone Marrow Transplant
41
531-5
2008
Homo sapiens
Dupont, C; El Hachem, C; Harchaoui, S; Ribault, V; Amiour, M; Guillot, M; Maire, I; Froissart, R; Guffon-Fouilhoux, N
[Hurler syndrome. Early diagnosis and successful enzyme replacement therapy: a new therapeutic approach. Case report]
Arch Pediatr
15
45-9
2008
Homo sapiens
Osborn, MJ; McElmurry, RT; Peacock, B; Tolar, J; Blazar, BR
Targeting of the CNS in MPS-IH using a nonviral transferrin-alpha-L-iduronidase fusion gene product.
Mol Ther
16
1459-66
2008
Mus sp.
Khedhiri, S; Chkioua, L; Bouzidi, H; Dandana, A; Ben Turkia, H; Miled, A; Laradi, S
Mucopolysaccharidoses type I and IVA: Clinical features and consanguinity in Tunisia.
Pathol Biol (Paris)
2008
Homo sapiens
Ponder, KP
Immune response hinders therapy for lysosomal storage diseases.
J Clin Invest
118
2686-9
2008
Homo sapiens
Munoz-Rojas, MV; Vieira, T; Costa, R; Fagondes, S; John, A; Jardim, LB; Vedolin, LM; Raymundo, M; Dickson, PI; Kakkis, E; Giugliani, R
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression.
Am J Med Genet A
146A
2538-44
2008
Homo sapiens
Chen, CH; Dellamaggiore, KR; Ouellette, CP; Sedano, CD; Lizadjohry, M; Chernis, GA; Gonzales, M; Baltasar, FE; Fan, AL; Myerowitz, R; Neufeld, EF
Aptamer-based endocytosis of a lysosomal enzyme.
Proc Natl Acad Sci U S A
105
15908-13
2008
Homo sapiens, Mus musculus
Blanchard, S; Sadilek, M; Scott, CR; Turecek, F; Gelb, MH
Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I.
Clin Chem
2008
Homo sapiens
Blanchard, S; Sadilek, M; Scott, CR; Turecek, F; Gelb, MH
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I.
Clin Chem
54
2067-70
2008
Homo sapiens
Yano, S; Moseley, K; Pavlova, Z
Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy.
J Inherit Metab Dis
2009
Homo sapiens, Stenosis
Illsinger, S; Lücke, T; Hartmann, H; Mengel, E; Müller-Forell, W; Donnerstag, F; Das, AM
Scheie syndrome: Enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression.
J Inherit Metab Dis
2009
Homo sapiens
Boy, R; Schwartz, IV; Krug, BC; Santana-da-Silva, LC; Steiner, CE; Acosta, AX; Ribeiro, EM; Galera, MF; Leivas, PG; Braz, M
Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I.
J Med Ethics
37
233-9
2011
Homo sapiens, collection
Chkioua, L; Khedhiri, S; Kassab, A; Bibi, A; Ferchichi, S; Froissart, R; Vianey-Saban, C; Laradi, S; Miled, A
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.
Diagn Pathol
6
39
2011
Homo sapiens
Verhulst, K; Artiles-Carloni, L; Beck, M; Clarke, JT; Neto, JC; Cox, GF; Fernhoff, PM; Guffon, N; Kong, Y; Martins, AM; Tylki-Szymanska, A; Whitley, CB; Wijburg, FA; Wraith, EJ; Koepper, CM
Source document verification in the Mucopolysaccharidosis Type I Registry.
Pharmacoepidemiol Drug Saf
2011
Homo sapiens
D'Aco, K; Underhill, L; Rangachari, L; Arn, P; Cox, GF; Giugliani, R; Okuyama, T; Wijburg, F; Kaplan, P
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.
Eur J Pediatr
2012
Homo sapiens
Almeida, AC; Pasqualim, G; Mayer, FQ; Schwartz, IV; Souza, CF; Giugliani, R; Matte, U
Analysis of cDNA molecules is not suitable for the molecular diagnosis of Mucopolysaccharidosis type I.
Diagn Mol Pathol
21
53-5
2012
Homo sapiens
Snchez-Snchez, LM; Del ngel-Cruz, E; Domnguez-Sansores, LA
[Mucopolysaccharidosis I: management and follow up of three patients].
Rev Med Inst Mex Seguro Soc
50
197-201
0
Homo sapiens
Jurecka, A; Marucha, J; Jurkiewicz, E; R?d?y?ska-?wi?tkowska, A; Tylki-Szyma?ska, A
Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up.
Pediatr Neurol
47
461-5
2012
Homo sapiens, Stenosis
Keeling, KM; Wang, D; Dai, Y; Murugesan, S; Chenna, B; Clark, J; Belakhov, V; Kandasamy, J; Velu, SE; Baasov, T; Bedwell, DM
Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression.
PLoS One
8
e60478
2013
Mus musculus
Kingma, SD; Langereis, EJ; De Klerk, CM; Zoetekouw, L; Wagemans, T; Ijlst, L; Wanders, RJ; Wijburg, FA; van Vlies, N
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
Orphanet J Rare Dis
8
99
2013
Homo sapiens
Ferrara, G; Maximova, N; Zennaro, F; Gregori, M; Tamaro, P
Hematopoietic stem cell transplantation effects on spinal cord compression in Hurler.
Pediatr Transplant
18
E96-9
2014
Homo sapiens
Leroux, S; Muller, JB; Boutaric, E; Busnel, A; Lemouel, F; Andro-Garon, M; Neven, B; Valayannopoulos, V; Vinceslas, C
[Hurler syndrome: Early diagnosis and treatment.]
Arch Pediatr
2014
Homo sapiens, Stenosis
Mayer, FQ; Adorne, MD; Bender, EA; de Carvalho, TG; Dilda, AC; Beck, RC; Guterres, SS; Giugliani, R; Matte, U; Pohlmann, AR
Laronidase-functionalized multiple-wall lipid-core nanocapsules: promising formulation for a more effective treatment of mucopolysaccharidosis type I.
Pharm Res
32
941-54
2015
Homo sapiens
Wraith, JE; Jones, S
Mucopolysaccharidosis type I.
Pediatr Endocrinol Rev
12 Suppl 1
102-6
2014
animal, Homo sapiens, Mus sp.
Johnson, BA; Dajnoki, A; Bodamer, OA
Diagnosing lysosomal storage disorders: mucopolysaccharidosis typei.
Curr Protoc Hum Genet
84
17.17.1-8
2015
Homo sapiens
Vance, M; Llanga, T; Bennett, W; Woodard, K; Murlidharan, G; Chungfat, N; Asokan, A; Gilger, B; Kurtzberg, J; Samulski, RJ; Hirsch, ML
AAV Gene Therapy for MPS1-associated Corneal Blindness.
Sci Rep
6
22131
2016
Homo sapiens, Adeno-associated virus - 8, Adeno-associated virus
Parini, R; Deodato, F; Di Rocco, M; Lanino, E; Locatelli, F; Messina, C; Rovelli, A; Scarpa, M
Open issues in Mucopolysaccharidosis type I-Hurler.
Orphanet J Rare Dis
12
112
2017
Homo sapiens
Tong, W; Dwyer, CA; Thacker, BE; Glass, CA; Brown, JR; Hamill, K; Moremen, KW; Sarrazin, S; Gordts, PLSM; Dozier, LE; Patrick, GN; Tor, Y; Esko, JD
Guanidinylated Neomycin Conjugation Enhances Intranasal Enzyme Replacement in the Brain.
Mol Ther
25
2743-2752
2017
Homo sapiens, Mus sp.
Javed, A; Aslam, T; Jones, SA; Mercer, J; Tyler, K; Church, H; Ghosh, A; Wynn, R; Sornalingam, K; Ashworth, J
The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler).
Acta Ophthalmol
2017
Homo sapiens
Makino, E; Klodnitsky, H; Leonard, J; Lillie, J; Lund, TC; Marshall, J; Nietupski, J; Orchard, PJ; Miller, WP; Phaneuf, C; Tietz, D; Varban, ML; Donovan, M; Belenki, A
Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1.
Sci Rep
8
3681
2018
Mus sp.
Donati, MA; Pasquini, E; Spada, M; Polo, G; Burlina, A
Newborn screening in mucopolysaccharidoses.
Ital J Pediatr
44
126
2018
Homo sapiens
Ghosh, A; Liao, A; O'Leary, C; Mercer, J; Tylee, K; Goenka, A; Holley, R; Jones, SA; Bigger, BW
Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I.
Mol Ther Methods Clin Dev
13
321-333
2019
Mus sp.
Assadeck, H; Toudou Daouda, M; Bako, H; Hassane Djibo, F
Hurler-Scheie syndrome in Niger: a case series.
J Med Case Rep
13
102
2019
Homo sapiens
Chen, AH; Harmatz, P; Nestrasil, I; Eisengart, JB; King, KE; Rudser, K; Kaizer, AM; Svatkova, A; Wakumoto, A; Le, SQ; Madden, J; Young, S; Zhang, H; Polgreen, LE; Dickson, PI
Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
Mol Genet Metab
129
80-90
2020
Homo sapiens
Lito, S; Sidibe, A; Ilmjarv, S; Burda, P; Baumgartner, M; Wehrle-Haller, B; Krause, KH; Marteyn, A
Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors.
Cells
9
2020
Homo sapiens
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