Gaucher Disease
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
Gaucher Disease
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The results are discussed in the light of (a) identity of glucocerebrosidase and ;acid' beta-glucosidase, (b) application in clinical diagnosis, (c) physiological significance of the enzyme system, and (d) polygenic inheritance in adult Gaucher's disease.
|
4780697 |
1973 |
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These data and the low residual activity of the enzyme in all the variants of Gaucher disease suggest that the mutations of beta-glucocerebrosidase are allelic and involve the active site.
|
6957882 |
1982 |
Gaucher Disease
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Although reduced acid beta-glucosidase activity appears to be the primary enzyme defect in type I Gaucher disease, patients with this disorder also have marked elevation of serum acid phosphatase and beta-hexosaminidase activities but with a normal level of lactic dehydrogenase activity.
|
6859103 |
1983 |
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Discrimination between the three clinical subtypes of Gaucher's disease based on the molecular forms of beta-glucocerebrosidase detected by monoclonal antibody is described.
|
6883722 |
1983 |
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Gaucher disease is a lysosomal storage disorder resulting from a deficiency of acid beta-glucosidase.
|
6418635 |
1983 |
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hydrops fetalis associated with Gaucher disease.
|
6504764 |
1984 |
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts.
|
3026174 |
1986 |
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Processing of acid beta-glucosidase in fibroblasts from three of four type 1 (nonneuronopathic) Ashkenazi Jewish Gaucher disease patients was nearly normal.
|
2495719 |
1989 |
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.
|
2508065 |
1989 |
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease (GD), which results from mutations in the human acid beta-glucosidase (beta-Glc) gene, was used as a model system to compare the utility of three methods capable of detecting single base substitutions.
|
2508065 |
1989 |
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease has marked phenotypic variation and molecular heterogeneity, and seven point mutations in the acid beta-glucosidase (beta-Glc) gene have been identified.
|
2349952 |
1990 |
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease.
|
2127241 |
1990 |
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.
|
1961718 |
1991 |
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Three unique base pair changes in a family with Gaucher disease.
|
1864608 |
1991 |
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This study was undertaken to identify mutant alleles in such incompletely characterized Gaucher disease, in an attempt to find further correlations between clinical phenotype and the presence of acid beta-glucosidase alleles.
|
1899336 |
1991 |
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in Jewish patients with Gaucher disease.
|
1558964 |
1992 |
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification of six new Gaucher disease mutations.
|
8432537 |
1993 |
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Two novel fluorescent glycolipids, LRO-glucosylceramide (LRO-GC) and LRO-trihexosylceramide (LRO-THC) were synthesized and utilized for estimating activities of the lysosomal, acid beta-glucosidase in cell extracts and intact skin fibroblasts, derived from normal individuals and patients with Gaucher disease subtypes.
|
8399329 |
1993 |
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Glucocerebrosidase mutations in Gaucher disease.
|
8790604 |
1994 |
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
We confirmed that a low-dose/high-frequency regimen of alglucerase was as effective as a high-dose/low-frequency protocol in the treatment of Gaucher's disease, even in the severely ill.
|
8030654 |
1994 |
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
|
8294487 |
1994 |
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.
|
7981693 |
1994 |
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Gaucher disease.
|
7500895 |
1995 |
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Gaucher disease is a lysosomal storage disorder resulting form deficiency of the acid beta-glucosidase, glucocerebrosidase (GC).
|
8593601 |
1995 |