|
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Gaucher disease: four families with previously undescribed mutations.
|
8774051 |
1996 |
|
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Glucocerebrosidase mutations in Gaucher disease.
|
8790604 |
1994 |
|
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Glucocerebrosidase (Gaucher disease).
|
8889578 |
1996 |
|
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
CTD_human |
Glucosylceramide metabolism is regulated during normal and hormonally stimulated epidermal barrier development in the rat.
|
9101438 |
1997 |
|
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
|
9153297 |
1997 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
|
9153297 |
1997 |
|
Gaucher Disease
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Gaucher disease (GD) is a lysosomal storage disorder resulting from impaired activity of lysosomal beta-glucocerebrosidase.
|
9182788 |
1997 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
84GG, 1504T, 1604T, 1342C and 1297T) and the complete deletion of the beta-glucocerebrosidase gene was investigated in 25 unrelated non-Jewish patients with Gaucher's disease in Germany.
|
9187679 |
1997 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.
|
9225972 |
1997 |
|
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis in 46 British and Irish patients with Gaucher's disease.
|
9279145 |
1997 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the lysosomal beta-glucocerebrosidase (GBA) gene.
|
9554746 |
1998 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding beta-glucocerebrosidase are the main cause of Gaucher disease.
|
9556036 |
1998 |
|
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Enzyme replacement therapy with alglucerase is the treatment of choice for patients with Gaucher's disease, but it is yet to be shown whether alglucerase reduces the risk of these complications during pregnancy and whether its use has any adverse effect on fetal development.
|
9643638 |
1998 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia.
|
9654259 |
1998 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.
|
9683600 |
1998 |
|
Gaucher Disease
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
The diagnosis of Gaucher's disease was made in early childhood by bone marrow biopsy and was recently confirmed by biochemical demonstration of reduced leukocyte beta-glucocerebrosidase activity and the presence of Gaucher cells in a bone marrow aspirate.
|
9723584 |
1998 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease (GD) is caused by a deficiency of beta-glucocerebrosidase activity mainly due to mutations in the gene coding for the enzyme.
|
9856561 |
1998 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
|
10079102 |
1999 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This study identifies a G202R mutation in the acid beta-glucosidase gene in an infant with severe neuronopathic (type 2) GD and only slightly reduced acid beta-glucosidase activity.
|
10440752 |
1999 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Ann Allergy 72: 1994: 395-403) and glucocerebrosidase for Gaucher disease (Niederau C, vom Dahl S, Haussinger D. First long-term results of imiglucerase therapy of type 1 Gaucher disease.Eur J Med Res 1998: 3: 25-30).
|
10450855 |
1999 |
|
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
|
10649495 |
2000 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The N370S mutation at the GBA locus on human chromosome 1q21, which causes Gaucher disease (GD), has a high frequency in the Ashkenazim and is the second-most-widespread GD mutation in the European non-Jewish population.
|
10677327 |
2000 |
|
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Novel point mutation (W184R) in neonatal type 2 Gaucher disease.
|
10679038 |
2000 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
|
10757640 |
2000 |
|
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
|
10757640 |
2000 |