43 Article(s)Download |
PMID | Title | Pub. Year | #Total Relationships |
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 | 1 |
4 | 33073008 | Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. | 2020 Mar | 1 |
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 | 1 |
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 | 1 |
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 | 1 |
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 |