|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage disorder resulting from the deficiency of the enzyme iduronate-2-sulfatase (IDS).This study described the molecular characteristics of 63 Chinese children with MPS II and investigated functional characterization of seven novel IDS variants.
|
30639582 |
2019 |
|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucopolysaccharidosis II (MPS II) is a lysosomal storage disorder (LSD), caused by iduronate 2-sulphatase (IDS) enzyme dysfunction.
|
31039347 |
2019 |
|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucopolysaccharidosis type II (MPSII) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene (IDS, Xq28).
|
29168031 |
2018 |
|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucopolysaccharidosis type II or Hunter syndrome is an X-linked lysosomal storage disease caused by a mutation in the gene encoding the lysosomal enzyme iduronate-2-sulfatase.
|
29618310 |
2018 |
|
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Hunter syndrome (Mucopolysaccharidosis II, MPS II) is an X-linked lysosomal storage disease produced by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS).
|
29633336 |
2018 |
|
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Hunter syndrome (MPS II, OMIM 309900) is a lysosomal storage disorder due to deficient iduronate sulphatase activity.
|
28918469 |
2018 |
|
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS).
|
27883178 |
2017 |
|
Lysosomal Storage Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase.
|
28464912 |
2017 |
|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disorder due to the deficit of the iduronate 2-sulfatase (IDS) enzyme, causing progressive neurodegeneration in patients.
|
27512952 |
2016 |
|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucopolysaccharidosis II (Hunter syndrome) is a rare inherited lysosomal storage disorder resulting from a deficiency of iduronate-2-sulfatase (I2S).
|
22279584 |
2012 |
|
Lysosomal Storage Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS).
|
21605424 |
2011 |
|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Molecular investigations of iduronate-2-sulfatase (IDS) mutants for the X-linked lysosomal storage disease mucopolysaccharidosis type II (MPS II, Hunter disease), commonly depends on transient expression studies to verify a single nucleotide change to be pathogenic.
|
18331837 |
2008 |
|
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Mucopolysaccharidosis II (MPS II, Hunter syndrome in humans) is an X-linked inherited lysosomal storage disease caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase (I2S).
|
17876721 |
2007 |
|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucopolysaccharidosis (MPS) type II is a lysosomal storage disorder caused by a deficiency of the exoenzyme iduronate-2-sulfatase (I2S).
|
16377754 |
2006 |
|
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Mucopolysaccharidosis type II (MPSII; Hunter syndrome) is a lysosomal storage disorder caused by a deficiency in the enzyme iduronate 2-sulfatase (IDS).
|
16505002 |
2006 |
|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
An IDS deficiency causes the lysosomal storage disorder MPS II (mucopolysaccharidosis type II).
|
15500445 |
2005 |
|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucopolysaccharidosis type II (MPS2, or Hunter syndrome), rare X-linked lysosomal storage disorder, results from deleterious mutations in the iduronate-2-sulfatase (IDS) gene.
|
11462244 |
2001 |
|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucopolysaccharidosis type II (Hunter syndrome) is an X linked lysosomal storage disorder resulting from heterogeneous mutations in the iduronate-2-sulphatase (IDS) gene.
|
9950361 |
1999 |
|
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase.
|
10220152 |
1999 |
|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Deficiency of the enzyme iduronate-2-sulfatase (IDS) results in Hunter syndrome, an X-linked recessive lysosomal storage disorder.
|
9482575 |
1998 |
|
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Mucopolysaccharidosis type I (i.e., Hurler, Hurler-Scheie, and Scheie syndromes) and type II (i.e., Hunter syndrome) are lysosomal storage disorders resulting from alpha-L-iduronidase (IDUA) deficiency and iduronate-2-sulfatase (IDS) deficiency, respectively.
|
8554071 |
1996 |
|
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucopolysaccharidosis type II (Hunter disease) is a lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase.
|
7581397 |
1995 |
|
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13) results in the storage of the glycosaminoglycans heparan sulfate and dermatan sulfate, which leads to the lysosomal storage disorder mucopolysaccharidosis type II.
|
8244397 |
1993 |