Gaucher Disease, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Gaucher disease is an inherited metabolic disease caused by genetic acid β -glucosidase (GBA) deficiency and is currently treated by enzyme replacement therapy.
|
30822514 |
2019 |
Gaucher Disease, Type 1
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
This study provides novel pharmacokinetic data that support current imiglucerase administration regimens and suggests the existence of a glucocerebrosidase activity threshold related to Gaucher disease type 1 aggressiveness.
|
30128966 |
2019 |
Gaucher Disease, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Together, this comprehensive data set supports the treatment of adult and paediatric patients with GD who are naïve to ERT or who have previously been treated with imiglucerase.
|
29471850 |
2018 |
Gaucher Disease, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
We investigated the long-term development of B cell malignancies in an authentic model of non-neuronopathic Gaucher's disease in mice: selective deficiency of β-glucocerebrosidase in haematopoietic cells [Gba(tm1Karl/tm1Karl)Tg(Mx1-cre)1Cgn/0, with excision of exons 9-11 of the murine GBA1 gene, is induced by poly[I:C].
|
23775597 |
2013 |
Gaucher Disease, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
This multicenter, open-label, 12-month study examined the safety and efficacy of velaglucerase alfa in patients with GD1 previously receiving imiglucerase.
|
23339116 |
2013 |
Gaucher Disease, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
This analysis provides a benchmark for evaluating the utility of a disease management approach for GD1 based on monitoring achievement of therapeutic goals after treatment with imiglucerase.
|
18819093 |
2008 |
Gaucher Disease, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Posttranslationally engineered human beta-glucocerebrosidase (Ceredase/Cerezyme) is commercially available and is the standard ERT for Type I Gaucher disease.
|
12509713 |
2003 |
Gaucher Disease, Type 1
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficient activity of acid beta-glucosidase.
|
10757640 |
2000 |
Gaucher Disease, Type 1
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the deficient activity of acid beta-glucosidase (GBA).
|
10777718 |
2000 |
Gaucher Disease, Type 1
|
0.100 |
Biomarker
|
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, Type 1
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.
|
10340647 |
1999 |
Gaucher Disease, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
About 30 identified missense mutations are causal to the defective activity of acid beta-glucosidase in this disease. cDNAs were characterized from a moderately affected 9-year-old Ashkenazi Jewish Gaucher disease type 1 patient whose 80-year-old, enzyme-deficient, 1226G (Asn370----Ser [N370S]) homozygous grandfather was nearly asymptomatic.
|
1415223 |
1992 |
Gaucher Disease, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genotypes at the acid beta-glucosidase locus in selected Gaucher disease Type 1 patients were determined by allele-specific oligonucleotide hybridization of amplified genomic DNA.
|
2324100 |
1990 |
Gaucher Disease, Type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts.
|
2495719 |
1989 |
Gaucher Disease, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These kinetic, immunologic, and thermostability studies indicated that 1) type 1 Gaucher disease is biochemically heterogeneous and results from at least four distinct allelic acid beta-glucosidase mutations that alter enzyme structure and/or function, 2) neuronopathic and non-Jewish non-neuronopathic phenotypes cannot be distinguished reliably by kinetic analyses alone, and 3) the Ashkenazi type 1 Gaucher disease results from a unique mutation that alters a specific active site domain of acid beta-glucosidase.
|
3927728 |
1985 |
Gaucher Disease, Type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These inhibition studies indicated that: Gaucher disease type 1 is biochemically heterogeneous, neuronopathic and non-Jewish nonneuronopathic phenotypes cannot be reliably distinguished by these inhibitor studies, and the Ashkenazi Jewish form of Gaucher disease type 1 results from a unique mutation in a specific active site domain of acid beta-glucosidase that leads to a defective enzyme with a decreased Vmax.
|
4003396 |
1985 |
Gaucher Disease, Type 1
|
0.100 |
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 |