Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
β-Glucuronidase is a lysosomal enzyme and a molecular model of a class of therapeutics approved as enzyme replacement therapies for lysosomal storage diseases.
|
31175430 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucopolysaccharidosis Type VII (MPS7, also called β-glucuronidase deficiency or Sly syndrome; MIM 253220) is an extremely rare autosomal recessive lysosomal storage disease, caused by mutations in the GUSB gene.
|
30653816 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
MPS VII is a very rare disease but it is possible that some cases go undiagnosed for several reasons, including that MPS VII, and other lysosomal storage diseases, are not included in the work-up for NIHF in many institutions, and the presence of anasarca at birth may be confounding for the recognition of the typical facial characteristics of the disease.
|
30442200 |
2018 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by deficient β-glucuronidase (β-gluc) activity.
|
30413728 |
2018 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
An improved purification method for the lysosomal storage disease protein β-glucuronidase produced in CHO cells.
|
28734840 |
2017 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
These data support the clinical evaluation of HD CAV-2 vectors to treat the neurological defects associated with MPS VII and possibly other neuropathic lysosomal storage diseases.
|
24343103 |
2014 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Mucopolysaccharidosis type VII (MPSVII) is a lysosomal storage disease resulted from a deficiency of the enzyme beta-glucuronidase (GUSB), which is necessary for degradation of glycosaminoglycans (GAGs).
|
16636519 |
2006 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucopolysaccharidosis type VII (MPS VII), or Sly syndrome, is an autosomal recessive lysosomal storage disorder resulting from the deficiency in the activity of the enzyme beta-glucuronidase (GUSB).
|
9987917 |
1999 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Mucopolysaccharidosis type VII (Sly syndrome) is a lysosomal storage disease caused by inherited deficiency of the lysosomal enzyme beta-glucuronidase.
|
9037045 |
1997 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
An in vitro model for cross-correction of lysosomal storage disorders from genetically modified cells was developed to approximate the physiological conditions needed for gene therapy in vivo. beta-Glucuronidase (GUSB)-deficient mucopolysaccharidosis (MPS) type VII (Sly disease) cells were studied to determine the amount and stability of enzyme transfer.
|
7925654 |
1994 |
Lysosomal Storage Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Thus, the vector-encoded beta-glucuronidase was expressed at therapeutic levels in the appropriate organelle and corrected the metabolic defect in cells exhibiting the characteristic pathology of this lysosomal storage disorder.
|
2158095 |
1990 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Mucopolysaccharidosis type VII is a lysosomal storage disease resulting from a deficiency of beta-glucuronidase (BG) activity.
|
3924735 |
1985 |