| 1 |
33572941 | Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement. | 2021 Jan 29 |
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| 2 |
34360653 | Differences in MPS I and MPS II Disease Manifestations. | 2021 Jul 23 |
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| 3 |
32154058 | Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms. | 2020 Mar |
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| 4 |
32188113 | Mucopolysaccharidosis Type I. | 2020 Mar 16 |
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| 5 |
33073008 | Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. | 2020 Mar |
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| 6 |
31544795 | A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I. | 2019 Sep |
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| 7 |
30081189 | CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts. | 2018 Dec 15 |
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| 8 |
24368159 | Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. | 2014 Feb |
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| 9 |
24483599 | Hematopoietic stem cell transplantation effects on spinal cord compression in Hurler. | 2014 May |
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| 10 |
25359774 | Heparan sulfate inhibits hematopoietic stem and progenitor cell migration and engraftment in mucopolysaccharidosis I. | 2014 Dec 26 |
2 |
| 11 |
25459762 | Lessons from molecular modeling human α-L-iduronidase. | 2014 Nov |
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| 12 |
25558755 | Mutation c.1190-1delG/N in intron 8 and c.1708G>C/N in exon 12 not reported in the IDUA gene developed a clinical phenotype of Scheie syndrome. | 2014 Dec |
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| 13 |
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 |
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| 14 |
27326280 | Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters. | 2012 |
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| 15 |
21521498 | Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms. | 2011 Apr 26 |
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| 16 |
22074387 | Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population. | 2011 Nov 10 |
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| 17 |
19839758 | Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms. | 2009 Dec |
2 |
| 18 |
15639191 | Prediction of neuropathology in mucopolysaccharidosis I patients. | 2005 Jan |
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| 19 |
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 |
| 20 |
14718373 | Glycosaminoglycan degradation fragments in mucopolysaccharidosis I. | 2004 May |
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| 21 |
11861306 | Retrovirally mediated correction of bone marrow-derived mesenchymal stem cells from patients with mucopolysaccharidosis type I. | 2002 Mar 1 |
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| 22 |
11735025 | Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. | 2001 Nov |
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| 23 |
9725536 | Endoscopic adenoidectomy in a case of Scheie syndrome (MPS I S). | 1998 Jul 10 |
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| 24 |
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 |
| 25 |
8680403 | Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. | 1995 |
2 |
| 26 |
7998955 | Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts. | 1994 Nov 15 |
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| 27 |
1301196 | A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. | 1992 |
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| 28 |
1301941 | alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. | 1992 |
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| 29 |
1505961 | Structure and sequence of the human alpha-L-iduronidase gene. | 1992 Aug |
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| 30 |
1550122 | Immunoquantification and enzyme kinetics of alpha-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. | 1992 Apr |
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| 31 |
1554373 | Human alpha-L-iduronidase. Catalytic properties and an integrated role in the lysosomal degradation of heparan sulphate. | 1992 Mar 15 |
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| 32 |
1917344 | Airway obstruction in Hurler's syndrome--radiographic features. | 1991 Jul |
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| 33 |
1946389 | Human alpha-L-iduronidase: cDNA isolation and expression. | 1991 Nov 1 |
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| 34 |
2220820 | Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3. | 1990 Nov |
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| 35 |
2470345 | Immunopurification and characterization of human alpha-L-iduronidase with the use of monoclonal antibodies. | 1989 Apr 1 |
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| 36 |
6231139 | Heparan sulfate and dermatan sulfate from the liver of a patient with Hurler syndrome: high performance liquid chromatography of their degradation products after incubation with alpha-L-iduronidase-deficient fibroblasts. | 1984 Feb 28 |
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| 37 |
161508 | Structure of heparan sulphate oligosaccharides and their degradation by exo-enzymes. | 1979 Dec 1 |
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| 38 |
102641 | Fluorometric measurement of urinary alpha-L-iduronidase activity. | 1978 Sep |
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| 39 |
154210 | [Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)]. | 1978 Dec 8 |
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