| 1 |
33572941 | Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement. | 2021 Jan 29 |
1 |
| 2 |
34746235 | Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants. | 2021 |
2 |
| 3 |
32461912 | Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh10. | 2020 Sep |
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| 4 |
33073008 | Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. | 2020 Mar |
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| 5 |
33198351 | A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening. | 2020 Nov 12 |
2 |
| 6 |
33287330 | Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors. | 2020 Dec 3 |
2 |
| 7 |
31473686 | Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1. | 2019 Nov 26 |
2 |
| 8 |
31544795 | A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I. | 2019 Sep |
2 |
| 9 |
32165899 | Mucopolysaccharidosis Type I and Bilateral Optic Disc Edema. | 2019 Dec |
2 |
| 10 |
30170069 | In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system. | 2018 Oct 28 |
4 |
| 11 |
25134498 | Hurler syndrome: orofacial, dental, and skeletal findings of a case. | 2015 Apr |
1 |
| 12 |
24411223 | Long-term nonsense suppression therapy moderates MPS I-H disease progression. | 2014 Mar |
2 |
| 13 |
25267637 | Liver-directed gene therapy corrects cardiovascular lesions in feline mucopolysaccharidosis type I. | 2014 Oct 14 |
2 |
| 14 |
25459762 | Lessons from molecular modeling human α-L-iduronidase. | 2014 Nov |
2 |
| 15 |
27896125 | Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru. | 2014 |
2 |
| 16 |
23917744 | Mucopolysaccharidosis type I and craniosynostosis. | 2013 Oct |
1 |
| 17 |
22402327 | Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I. | 2012 May |
1 |
| 18 |
21037085 | Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome). | 2011 Jan 20 |
1 |
| 19 |
21624210 | [Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I]. | 2011 Apr |
1 |
| 20 |
21749451 | Glycosaminoglycan storage in neuroanatomical regions of mucopolysaccharidosis I dogs following intrathecal recombinant human iduronidase. | 2011 Aug |
2 |
| 21 |
21786328 | Evaluation of α-iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosis. | 2011 |
2 |
| 22 |
22030348 | [Mental retardation revealing mucopolysaccharidosis type I in a child treated for cystic fibrosis: a case report]. | 2011 Dec |
1 |
| 23 |
20455661 | Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: Effects of enzyme replacement therapy and hematopoietic cell transplantation. | 2010 May |
2 |
| 24 |
16718701 | Gene therapy of the brain in the dog model of Hurler's syndrome. | 2006 Aug |
2 |
| 25 |
17044753 | 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. | 2006 Nov |
2 |
| 26 |
15947088 | Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells. | 2005 Sep 15 |
2 |
| 27 |
16435198 | Marrow stromal cells from patients affected by MPS I differentially support haematopoietic progenitor cell development. | 2005 |
1 |
| 28 |
14718373 | Glycosaminoglycan degradation fragments in mucopolysaccharidosis I. | 2004 May |
1 |
| 29 |
15081804 | alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. | 2004 Apr 30 |
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| 30 |
11159948 | Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. | 2001 Feb 1 |
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| 31 |
9425437 | Retrovirus-mediated transfer of the human alpha-L-iduronidase cDNA into human hematopoietic progenitor cells leads to correction in trans of Hurler fibroblasts. | 1997 Nov |
2 |
| 32 |
8554071 | Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency. | 1996 Jan |
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| 33 |
8664897 | Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. | 1996 |
2 |
| 34 |
8680403 | Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. | 1995 |
2 |
| 35 |
1301196 | A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. | 1992 |
1 |
| 36 |
1301941 | alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. | 1992 |
1 |
| 37 |
1505961 | Structure and sequence of the human alpha-L-iduronidase gene. | 1992 Aug |
2 |
| 38 |
1525210 | Correction of mucopolysaccharidosis type I fibroblasts by retroviral-mediated transfer of the human alpha-L-iduronidase gene. | 1992 Aug |
1 |
| 39 |
1550122 | Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. | 1992 Apr |
1 |
| 40 |
1946389 | Human alpha-L-iduronidase: cDNA isolation and expression. | 1991 Nov 1 |
3 |
| 41 |
2115154 | Orofacial features of Scheie (Hurler-Scheie) syndrome (alpha-L-iduronidase deficiency). | 1990 Jul |
1 |
| 42 |
2220820 | Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3. | 1990 Nov |
3 |
| 43 |
6412235 | A canine model of human alpha-L-iduronidase deficiency. | 1983 Oct |
1 |