|
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 |
In this article, we discuss the historical guidelines for specific MPS types and the most recently adopted guidelines for MPS II and propose the development of future guidelines without conflict of interest and bias leading to mutual benefits to all parties including patients and families, professionals, tax payers, and governments.
|
30143438 |
2019 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
The availability of treatments in MPS II, IVA, VI, and VII with a better clinical outcome when started early in life, and the availability of a combined multiple assay for MPS, may be a prerequisite for new pilot NBS studies in the near future.
|
30442156 |
2018 |
|
Mucopolysaccharidoses
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
To explore the correlation between glycosaminoglycan (GAG) levels and mucopolysaccharidosis (MPS) type, we have evaluated the GAG levels in blood of MPS II, III, IVA, and IVB and urine of MPS IVA, IVB, and VI by tandem mass spectrometry.
|
29779903 |
2018 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis.
|
29397290 |
2018 |
|
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 |
Biomarker
|
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 |
LHGDN |
[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II].
|
17284421 |
2007 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II.
|
17655837 |
2007 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
|
17063374 |
2006 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis (MPS) type II is a lysosomal storage disorder caused by a deficiency of the exoenzyme iduronate-2-sulfatase (I2S).
|
16377754 |
2006 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Analysis of normal and mutant iduronate-2-sulphatase conformation.
|
15500445 |
2005 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
|
11462244 |
2001 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Hunter syndrome is an X-linked mucopolysaccharidosis due to deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS).
|
1355630 |
1992 |