Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is a rare autosomal storage disorder resulting from the defective alpha-L-iduronidase (encoded by IDUA) enzyme activity and accumulation of glycosaminoglycans (GAGs) in lysosomes.
|
31758674 |
2020 |
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is caused by deficiency of alpha-L-iduronidase (IDUA), leading to multisystemic accumulation of glycosaminoglycans (GAG).
|
31827259 |
2020 |
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
Central nervous system manifestations of mucopolysaccharidosis type I (MPS I) such as cognitive impairment, hydrocephalus, and spinal cord compression are inadequately treated by intravenously-administered enzyme replacement therapy with laronidase (recombinant human alpha-L-iduronidase).
|
31839529 |
2020 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resulting from pathogenic variants in the α-L-iduronidase (IDUA) gene.
|
31194252 |
2019 |
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS-I) is a severe genetic disease caused by a deficiency of the alpha-L-iduronidase (IDUA) enzyme.
|
31060789 |
2019 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is a severe disease due to deficiency of the lysosomal hydrolase α-L-iduronidase (IDUA) and the subsequent accumulation of the glycosaminoglycans (GAG), leading to progressive, systemic disease and a shortened lifespan.
|
30528089 |
2019 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis Type I (MPS I) is a rare genetic lysosomal storage disease caused by a mutation of IDUA gene.
|
31834922 |
2019 |
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type I is a lysosomal genetic disorder caused due to the deficiency of the α-L-iduronidase enzyme (IDUA).
|
28608934 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We evaluated the capacity of the recombinant form of the human IDUA enzyme, laronidase (Aldurazyme®), conjugated with CNTs to be internalized by fibroblasts from subjects affected with Mucopolysaccharidosis type I and the capacity of the enzyme to retain its activity after internalization.
|
29239447 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The treatment of MPS I patient's fibroblasts homozygous for the p.Trp402<sup>∗</sup> mutation led to a significant increase in IDUA activity at 2, 15, and 30 days when compared to MPS I untreated fibroblasts.
|
29122734 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to assess the extent of the diagnostic delay in the two ultra-rare diseases, i.e., mucopolysaccharidosis I (MPS I) and III (MPS III), both of which are lysosomal storage disorders with different phenotypic severities (MPS 1 is characterized by the severe Hurler and the more attenuated non-Hurler phenotypes, MPS III is characterized by the severe rapidly progressing (RP) phenotype and more attenuated slowly progressing (SP) phenotype).
|
29310675 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPSI) is caused by mutations in the gene encoding the α-L-iduronidase (IDUA) lysosomal enzyme and the majority of MPSI patients have severe central nervous system (CNS) involvement.
|
29442294 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Five unrelated patients were identified to have clinical diagnosis of intermediate form of MPS I (Hurler-Scheie) and exhibited low-to-absent levels of leukocyte IDUA activity.
|
29282708 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is caused by the lysosomal accumulation of glycosaminoglycans (GAGs) due to the deficiency of the enzyme alpha-L-iduronidase (IDUA).
|
29940298 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease resulting from deficiency in the α-L-iduronidase (IDUA) hydrolase and subsequent accumulation of glycosaminoglycan (GAG).
|
29198892 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The IDUA mutations were determined in four MPS I patients from four families from Northern Tunisia, by amplifying and sequencing each of the IDUA exons and intron-exon junctions.
|
29843745 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The incubation of the complexes with fibroblasts from MPS I patients led to a significant increase in IDUA activity and reduction of lysosomal abnormalities.
|
30170069 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Comment on "report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I".
|
30286738 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
Herein, using a murine model of mucopolysaccharidosis type I (MPS I) with a deficiency of α-L-iduronidase (IDUA), we sought to determine the transgene minimum effective doses (MEDs) in major organs, and if a transient increase of IDUA-containing red blood cells and platelets by repeated phlebotomy would provide further therapeutic benefits in diseased mice after EMK-restricted LV-mediated gene therapy.
|
30397627 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the most common pathogenic IDUA variant in MPS I patients are p.Trp402Ter, p.Gln70Ter and p.Pro533Arg.
|
29393969 |
2018 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme.
|
28619065 |
2017 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease due to deficiency of α-L-iduronidase (IDUA), a lysosomal enzyme that degrades glycosaminoglycans (GAG) heparan and dermatan sulfate.
|
28676128 |
2017 |
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS-I) is a progressive multi-system disorder caused by deficiency of lysosomal enzyme α-L-iduronidase, and patients treated with allogeneic HSCT at the onset have improved outcome, suggesting to administer such therapy as early as possible.
|
28842642 |
2017 |
Mucopolysaccharidosis I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
|
28752568 |
2017 |
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-l-iduronidase (IDUA), and patients with MPSI are currently treated with IDUA enzyme replacement therapy (ERT).
|
28279069 |
2017 |