|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.
|
31758674 |
2020 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
|
31473686 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among 153 subjects enrolled in this study, 13 had a confirmative diagnosis of MPS (age range, 0.6 to 10.9 years-three with MPS I, four with MPS II, five with MPS IIIB, and one with MPS IVA).
|
31590383 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We retrospectively reviewed the clinical ophthalmologic features and electrodiagnostic results of 50 Taiwanese patients with a diagnosis of MPS (34 males and 16 females; age range, 1.1-34.9 years; nine with MPS I, 17 with MPS II, 17 with MPS IV, and seven with MPS VI).
|
30848093 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
The ocular phenotype in MPS is variable, with corneal clouding occurring in MPSI, MPSIV and MPSVI, and retinopathy in MPSI only.
|
30120129 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
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 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autozygosity mapping was performed to identify the potential pathogenic variants in these 8 patients indirectly with the clinical diagnosis of MPSs. so three panels of STR (Short Tandem Repeat) markres flanking IDUA, SGSH and NAGLU genes were selected for multiplex PCR amplification.
|
31236806 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Corneal clouding, causing visual impairment, is seen in nearly all patients with Mucopolysaccharidosis type 1 (MPS-1).
|
31786241 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis (MPS) Type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-L-iduronidase (IDUA), and a majority of patients present with severe neurodegeneration and cognitive impairment.
|
29976218 |
2018 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aims of this study were to analyze the maxillomandibular morphology of patients with mucopolysaccharidosis (MPS) type I, II, III, IVa and VI and to evaluate the craniofacial effect of hematopoietic stem cell transplantation (HCST) in MPS I.
|
29046964 |
2018 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
In severe MPS I (MPS IH, or Hurler syndrome) initial developmental trajectory is usually unremarkable but cognitive development shows a plateau by 2 to 4 years of age and then progressively regresses with aging.
|
30442188 |
2018 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type 1 (MPS1) is an inherited lysosomal storage disorder caused by a deficiency in the glycosaminoglycan (GAG)-degrading enzyme α-l-iduronidase (IDUA).
|
28585336 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Additional studies in cultured neurons from MPS I mice showed that elevated spermine was essential for the abnormal neurite overgrowth exhibited by MPS neurons.
|
28934395 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
This review describes the appearance and progression of neurological signs and symptoms in patients with MPS I, II, and III, based on presentations and discussions among an international group of experts during a meeting on the brain in MPS on April 28-30, 2016, and additional literature searches on this subject.
|
29074036 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This pilot study analyzed 2862 dried blood spots (DBS) from newborns and 14 DBS from newborn patients with MPS (MPS I, n = 7; MPS II, n = 2; MPS III, n = 5).
|
27718145 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.
|
28649516 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The non-viral, integrating Sleeping Beauty (SB) transposon system is efficient in treating systemic monogenic disease in mice, including hemophilia A and B caused by deficiency of blood clotting factors and mucopolysaccharidosis types I and VII caused by α-L-iduronidase (IDUA) and β-glucuronidase (GUSB) deficiency, respectively.
|
28530135 |
2017 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
We conducted molecular analysis for 60 MPS-affected patients [MPS I (n = 30) (Hurler syndrome = 17, Hurler-Scheie syndrome = 13), and MPS II (n = 30) (severe = 18, attenuated = 12)] and identified a total of 44 [MPS I (n = 22) and MPS II (n = 22)] different pathogenic variants comprising missense, nonsense, frameshift, gross deletions and splice site variants.
|
27146977 |
2016 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs).
|
27910891 |
2016 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MPS II was the most common form of MPS, comprising 47.4% of all MPS cases diagnosed, followed by MPS IVA (26.8%) and MPS I (16.3%).
|
26740238 |
2016 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of its gene, IDUA, yield a spectrum of mucopolysaccharidosis (MPS) type I clinical disorders.
|
24368159 |
2014 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Since we previously observed that in patients with mucopolysaccharidosis (MPS) the storage of undegraded glycosaminoglycans (GAG) occurs from birth, in the present study we aimed to compare normal, untreated MPS I mice (knockout for alpha-l-iduronidase-IDUA), and MPS I mice treated with enzyme replacement therapy (ERT, Laronidase, 1.2mg/kg every 2 weeks) started from birth (ERT-neo) or from 2 months of age (ERT-ad).All mice were sacrificed at 6 months.
|
23562162 |
2013 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although enzyme replacement therapy has become available for some MPS types (MPS I, MPS II and MPS VI), this treatment is not efficient when neurological symptoms occur, especially in MPS III (Sanfilippo disease).
|
19690584 |
2010 |
|
Mucopolysaccharidoses
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These results suggest that the accumulation of GAGs in murine MPS I bone has an inhibitory effect on cathepsin K activity, resulting in impaired osteoclast activity and decreased cartilage resorption, which may contribute to the bone pathology seen in MPS diseases.
|
19834056 |
2009 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I.
|
18340403 |
2008 |