44 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 | 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 | 1 |
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 | 1 |
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 | 1 |
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 | 1 |
36 | 1917344 | Airway obstruction in Hurler's syndrome--radiographic features. | 1991 Jul | 1 |
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 | 1 |
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 |