|
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
The specific treatment for attenuated Mucopolysaccharidosis type I consists of enzyme-replacement therapy with laronidase (human recombinant α-L-iduronidase, Aldurazyme).
|
26965916 |
2016 |
|
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
We hypothesize that suppression therapy can attenuate the lysosomal storage disease mucopolysaccharidosis type I-Hurler (MPS I-H), the severe form of α-L-iduronidase deficiency.
|
24411223 |
2014 |
|
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the glycosidase alpha-L-iduronidase which is required for the lysosomal degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate.
|
1301941 |
1992 |
|
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 |
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 |
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.
|
19954743 |
2010 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.
|
21364962 |
2011 |
|
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 |
Two mucopolysaccharidosis type I (MPS-I) patients, subjected to bone marrow transplantation (BMT) more than 10 years ago, have recently had their alpha-L-iduronidase genotypes defined.
|
8127052 |
1993 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice.
|
22472038 |
2012 |
|
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS IH; Hurler syndrome) is a congenital deficiency of α-L-iduronidase, leading to lysosomal storage of glycosaminoglycans that is ultimately fatal following an insidious onset after birth.
|
21037085 |
2011 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
|
21394825 |
2011 |
|
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidase.
|
11825626 |
2002 |
|
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 the lysosomal storage disease caused by the deficient activity of alpha-L-iduronidase (IDUA).
|
10356309 |
1999 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In this work, fibroblasts from MPS I patients (p.W402X/p.W402X; p.R89W/p.W402X and p.Q70X/c.1739-1g > t) were treated with chloramphenicol, which resulted in 100-fold increase on IDUA activity on compound heterozygous fibroblasts. cDNA sequencing showed that only the alleles without the nonsense mutation were being amplified, even after treatment, leading us to suggest that the nonsense alleles were targeted to nonsense-mediated mRNA decay and that chloramphenicol acts through a mechanism other than SCRT.
|
23167761 |
2013 |
|
Mucopolysaccharidosis I
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
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.
|
17044753 |
2006 |
|
Mucopolysaccharidosis I
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder that results from a deficiency in alpha-L-iduronidase (IDUA), which is involved in the degradation of dermatan and heparan sulfates.
|
19839758 |
2009 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The alpha-L-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation.
|
14559116 |
2003 |
|
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 |
|
Mucopolysaccharidosis I
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA).
|
21639919 |
2011 |