|
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 |
CausalMutation
|
disease |
CLINVAR |
The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK.
|
18796143 |
2008 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
|
8680403 |
1995 |
|
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 |
GeneticVariation
|
disease |
LHGDN |
The IDUA mutations in five MPS I patients from three unrelated families from central and southern Tunisia were determined by amplifying and sequencing each of the IDUA exons and intron-exon junctions.
|
16435195 |
2005 |
|
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 |
CLINVAR |
Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.
|
21480867 |
2012 |
|
Mucopolysaccharidosis I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
|
8019563 |
1994 |
|
Mucopolysaccharidosis I
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.
|
12559846 |
2003 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.
|
27511503 |
2016 |
|
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 |
Therapeutic
|
disease |
CTD_human |
To determine the potential for treatment of mucopolysaccharidosis type I using a gene delivery approach, a recombinant adeno-associated virus (AAV) vector, vTRCA1, transducing the human iduronidase (IDUA) gene was constructed and 1 x 10(10) particles were injected intravenously into 1-day-old Idua(-/-) mice.
|
15194053 |
2004 |
|
Mucopolysaccharidosis I
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
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 |
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 |