| 1 |
33572941 | Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement. | 2021 Jan 29 |
1 |
| 2 |
34360653 | Differences in MPS I and MPS II Disease Manifestations. | 2021 Jul 23 |
2 |
| 3 |
32188113 | Mucopolysaccharidosis Type I. | 2020 Mar 16 |
1 |
| 4 |
33073008 | Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. | 2020 Mar |
2 |
| 5 |
31544795 | A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I. | 2019 Sep |
1 |
| 6 |
28676128 | Phenotype prediction for mucopolysaccharidosis type I by in silico analysis. | 2017 Jul 4 |
2 |
| 7 |
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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| 8 |
24483599 | Hematopoietic stem cell transplantation effects on spinal cord compression in Hurler. | 2014 May |
2 |
| 9 |
25459762 | Lessons from molecular modeling human α-L-iduronidase. | 2014 Nov |
4 |
| 10 |
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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| 11 |
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 |
| 12 |
27326280 | Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters. | 2012 |
1 |
| 13 |
21521498 | Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms. | 2011 Apr 26 |
2 |
| 14 |
21624210 | [Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I]. | 2011 Apr |
1 |
| 15 |
22303797 | Sudden vision loss in a mucopolysaccharidosis I patient receiving enzyme replacement therapy. | 2011 |
1 |
| 16 |
20162367 | Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I. | 2010 Apr |
1 |
| 17 |
15639191 | Prediction of neuropathology in mucopolysaccharidosis I patients. | 2005 Jan |
1 |
| 18 |
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 |
| 19 |
16283671 | Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme). | 2005 Dec 15 |
1 |
| 20 |
16435198 | Marrow stromal cells from patients affected by MPS I differentially support haematopoietic progenitor cell development. | 2005 |
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| 21 |
14718373 | Glycosaminoglycan degradation fragments in mucopolysaccharidosis I. | 2004 May |
1 |
| 22 |
15081804 | alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. | 2004 Apr 30 |
1 |
| 23 |
15236403 | Prevention of neuropathology in the mouse model of Hurler syndrome. | 2004 Jul |
2 |
| 24 |
11861306 | Retrovirally mediated correction of bone marrow-derived mesenchymal stem cells from patients with mucopolysaccharidosis type I. | 2002 Mar 1 |
1 |
| 25 |
11405343 | Enzyme replacement therapy in mucopolysaccharidosis type I: progress and emerging difficulties. | 2001 Apr |
1 |
| 26 |
10702409 | Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. | 2000 Mar |
1 |
| 27 |
10596456 | Linkage disequilibrium between IDUA kpnI-VNTR haplotype in Mexican patients with MPS-I. | 1999 Sep-Oct |
2 |
| 28 |
9725536 | Endoscopic adenoidectomy in a case of Scheie syndrome (MPS I S). | 1998 Jul 10 |
1 |
| 29 |
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 |
| 30 |
8680403 | Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. | 1995 |
2 |
| 31 |
7998955 | Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts. | 1994 Nov 15 |
4 |
| 32 |
1301196 | A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. | 1992 |
1 |
| 33 |
1301941 | alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. | 1992 |
1 |
| 34 |
1505961 | Structure and sequence of the human alpha-L-iduronidase gene. | 1992 Aug |
2 |
| 35 |
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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| 36 |
1917344 | Airway obstruction in Hurler's syndrome--radiographic features. | 1991 Jul |
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| 37 |
1946389 | Human alpha-L-iduronidase: cDNA isolation and expression. | 1991 Nov 1 |
2 |
| 38 |
2220820 | Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3. | 1990 Nov |
2 |
| 39 |
2470345 | Immunopurification and characterization of human alpha-L-iduronidase with the use of monoclonal antibodies. | 1989 Apr 1 |
1 |
| 40 |
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 |
1 |
| 41 |
6437709 | alpha-L-Iduronidase deficiency in mucopolysaccharidosis type I against a radiolabelled sulfated disaccharide substrate derived from dermatan sulfate. | 1984 Nov |
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| 42 |
6423280 | Selective depolymerisation of dermatan sulfate: production of radiolabelled substrates for alpha-L-iduronidase, sulfoiduronate sulfatase, and beta-D-glucuronidase. | 1983 Oct 28 |
2 |
| 43 |
102641 | Fluorometric measurement of urinary alpha-L-iduronidase activity. | 1978 Sep |
1 |
| 44 |
154210 | [Mucopolysaccharidosis V (Ullrich-Scheie syndrome) (author's transl)]. | 1978 Dec 8 |
1 |