|
Pfaundler-Hurler Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
So far, more than 100 IDUA causative mutations have been identified leading to three MPS I phenotypic subtypes: Hurler syndrome (severe form), Hurler/Scheie syndrome (intermediate form), and Scheie syndrome (mild form).
|
31758674 |
2020 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type I-Hurler (MPS1-H) is the most severe form of inherited metabolic diseases caused by mutations in the IDUA gene.
|
31678774 |
2019 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis Type I (MPS I), caused by deficiency of α-L-iduronidase results in progressive, multisystemic disease with a broad phenotypic spectrum including patients with severe (Hurler syndrome) to attenuated (Hurler-Scheie and Scheie syndromes) disease.
|
31639289 |
2019 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
We prospectively studied the ocular features of patients with MPSI (Hurler/Hurler-Scheie/Scheie), MPSIV (Morquio) and MPSVI (Maroteaux-Lamy), to evaluate the effect of different therapeutic interventions and to correlate the findings with genetic and biomarker data.
|
30120129 |
2019 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
It is active in a broad spectrum of cell types, including multiple human primary cell types, and can restore α-L-iduronidase catalytic activity in Hurler syndrome patient-derived primary fibroblasts without evoking innate immune responses.
|
31308540 |
2019 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type 1 (MPS-1), also known as Hurler's disease, is a congenital metabolic disorder caused by a mutation in the alpha-L-iduronidase (IDUA) gene, which results in the loss of lysosomal enzyme function for the degradation of glycosaminoglycans.
|
31065277 |
2019 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The estimated global incidence of MPS1 is 1:100,000 live births for the Hurler and 1:800,000 for the Scheie phenotypes.
|
31473686 |
2019 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
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 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
To investigate the plant lectin ricin B chain (RTB) as a novel carrier for enzyme delivery to the brain, an IDUA:RTB fusion protein (IDUAL), produced in N. benthamiana leaves, was tested in a murine model of Hurler syndrome (MPS I).
|
29198892 |
2018 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
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 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
Biomarker
|
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 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
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 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The NSCs exhibited characteristic disease phenotypes with deficiency of IDUA, accumulation of GAGs and enlargement of lysosomes, in agreement with the severity of clinical subgroups of MPS I. Transcriptome profiling of NSCs revealed 429 genes that demonstrated a more extensive change in expression in the most severe Hurler syndrome subgroup compared to the intermediate Hurler-Scheie or the least severe Scheie syndrome subgroups.
|
30052969 |
2018 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type I is a recessive genetic disease caused by deficiency of the lysosomal enzyme α-L-iduronidase, which leads to a neurodegenerative and systemic disease called Hurler syndrome in its most severe form.
|
30073179 |
2018 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
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 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
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 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.
|
29801497 |
2018 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler), II, III, and VII can present with significant neurological manifestations, including impaired cognitive abilities, difficulties in language and speech, behavioral abnormalities, sleep problems, and/or seizures.
|
29128371 |
2017 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
A prospective cohort study was done of 9 patients with MPS I (Hurler) or VI (Maroteaux-Lamy).
|
28170539 |
2017 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
|
28752568 |
2017 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In order to support the clinical application of hematopoietic stem cell (HSC) gene therapy for mucopolysaccharidosis I (MPS I), biosafety studies were conducted to assess the toxicity and tumorigenic potential, as well as the biodistribution of HSCs and progenitor cells (HSPCs) transduced with lentiviral vectors (LV) encoding the cDNA of the alpha-iduronidase (IDUA) gene, which is mutated in MPS I patients.
|
27431943 |
2016 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.
|
26825088 |
2016 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.
|
27511503 |
2016 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
|
27146977 |
2016 |
|
Pfaundler-Hurler Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
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.
|
27520059 |
2016 |