Found: 29
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Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 443, doi. 10.1111/j.1399-0004.2011.01680.x
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- Publication type:
- Article
Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.
- Published in:
- 2017
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- Publication type:
- journal article
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.
- Published in:
- 2015
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- Publication type:
- journal article
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-99
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- Publication type:
- Article
Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase Correct Enzyme Deficiency in Human Mucopolysaccharidosis Type I Cells.
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- Cells Tissues Organs, 2012, v. 195, n. 4, p. 323, doi. 10.1159/000327532
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- Publication type:
- Article
Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I.
- Published in:
- Pharmaceutical Research, 2015, v. 32, n. 3, p. 941, doi. 10.1007/s11095-014-1508-y
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- Publication type:
- Article
Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I".
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0697-3
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- Publication type:
- Article
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0319-x
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- Publication type:
- Article
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.
- Published in:
- 2016
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- Publication type:
- Case Study
Effects of Enzyme Replacement Therapy Started Late in a Murine Model of Mucopolysaccharidosis Type I.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117271
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- Publication type:
- Article
Mesenchymal Stem Cells Do Not Prevent Antibody Responses against Human α-L-Iduronidase when Used to Treat Mucopolysaccharidosis Type I.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0092420
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- Publication type:
- Article
Quantitative Analysis of α-L-Iduronidase Expression in Immunocompetent Mice Treated with the <i>Sleeping Beauty</i> Transposon System.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0078161
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- Publication type:
- Article
N-glycan structures and downstream mannose-phosphorylation of plant recombinant human alpha- l-iduronidase: toward development of enzyme replacement therapy for mucopolysaccharidosis I.
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- Plant Molecular Biology, 2017, v. 95, n. 6, p. 593, doi. 10.1007/s11103-017-0673-x
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- Publication type:
- Article
Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment.
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- Journal of Materials Science: Materials in Medicine, 2017, v. 28, n. 3, p. 1, doi. 10.1007/s10856-017-5844-4
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- Publication type:
- Article
Influence of an ER-retention signal on the N-glycosylation of recombinant human α- l-iduronidase generated in seeds of Arabidopsis.
- Published in:
- Plant Molecular Biology, 2012, v. 79, n. 1-2, p. 157, doi. 10.1007/s11103-012-9902-5
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- Publication type:
- Article
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
- Published in:
- 2019
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- Publication type:
- Case Study
Hurler syndrome: orofacial, dental, and skeletal findings of a case.
- Published in:
- Skeletal Radiology, 2015, v. 44, n. 4, p. 579, doi. 10.1007/s00256-014-1982-7
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- Publication type:
- Article
Normalization and Improvement of CNS Deficits in Mice With Hurler Syndrome After Long-term Peripheral Delivery of BBB-targeted Iduronidase.
- Published in:
- Molecular Therapy, 2014, v. 22, n. 12, p. 2028, doi. 10.1038/mt.2014.152
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- Publication type:
- Article
Hurler Syndrome.
- Published in:
- 2016
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- Publication type:
- Case Study
New Irreversible α‐l‐Iduronidase Inhibitors and Activity‐Based Probes.
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- Chemistry - A European Journal, 2018, v. 24, n. 71, p. 19081, doi. 10.1002/chem.201804662
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- Publication type:
- Article
Worldwide distribution of common IDUA pathogenic variants.
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- Clinical Genetics, 2018, v. 94, n. 1, p. 95, doi. 10.1111/cge.13224
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- Publication type:
- Article
Treatment of adult MPSI mouse brains with IDUA-expressing mesenchymal stem cells decreases GAG deposition and improves exploratory behavior.
- Published in:
- Genetic Vaccines & Therapy, 2012, v. 10, n. 1, p. 2, doi. 10.1186/1479-0556-10-2
- Publication type:
- Article
Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150850
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- Publication type:
- Article
Mucopolysaccharidosis type I and craniosynostosis.
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- Acta Neurochirurgica, 2013, v. 155, n. 10, p. 1973, doi. 10.1007/s00701-013-1831-9
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- Publication type:
- Article
Clinical manifestation of Hurler syndrome in a 7 year old child.
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- Contemporary Clinical Dentistry, 2012, v. 3, n. 1, p. 86, doi. 10.4103/0976-237X.94554
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- Publication type:
- Article
Mucopolisacaridosis I.
- Published in:
- Revista Medica del IMSS, 2012, v. 50, n. 2, p. 197
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- Publication type:
- Article
Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.
- Published in:
- Nature Chemical Biology, 2013, v. 9, n. 11, p. 739, doi. 10.1038/nchembio.1357
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- Publication type:
- Article
Toward reducing immunogenicity of enzyme replacement therapy: altering the specificity of human β-glucuronidase to compensate for α-iduronidase deficiency.
- Published in:
- PEDS: Protein Engineering, Design & Selection, 2015, v. 28, n. 11, p. 519, doi. 10.1093/protein/gzv041
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- Publication type:
- Article
Synthesis of a fluorogenic substrate for α-L-iduronidase.
- Published in:
- ARKIVOC: Online Journal of Organic Chemistry, 2013, p. 13
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- Publication type:
- Article