Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
|
1840477 |
1991 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
BEFREE |
These studies implicate defective GCase function and GC/GS accumulation as risk factors for mitochondrial dysfunction and the multi-proteinopathies (α-synuclein-, APP- and Aβ-aggregates) in nGD.
|
24599400 |
2014 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of 11 novel GBA alleles.
|
24022302 |
2014 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
BEFREE |
Fluorinated Chaperone-β-Cyclodextrin Formulations for β-Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher Disease.
|
28171725 |
2017 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
CTD_human |
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
|
10757640 |
2000 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hyperferritinemia and iron overload in type 1 Gaucher disease.
|
20575041 |
2010 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
A MspI polymorphism was detected in the beta-glucocerebrosidase gene in 10 Swedish families affected by type III Gaucher's disease.
|
2468600 |
1988 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
CTD_human |
Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy.
|
12359135 |
2003 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
D409H/D409H genotype in Gaucher-like disease.
|
9040001 |
1997 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hydrops fetalis associated with Gaucher disease.
|
6504764 |
1984 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
BEFREE |
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
|
28040394 |
2017 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
CTD_human |
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity.
|
21250698 |
2011 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
CTD_human |
New glucocerebrosidase inhibitors by exploration of chemical diversity of N-substituted aminocyclitols using click chemistry and in situ screening.
|
21370884 |
2011 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene.
|
31678773 |
2019 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
BEFREE |
We report the first characterization of a GBA genotype associated with the development of neutralizing antibody to alglucerase, in a patient affected with type 3 Gaucher disease.
|
11600137 |
2001 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
To explore this, we studied neuronopathic Gaucher disease (nGD), caused by mutations in GBA.
|
30013199 |
2018 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Gaucher Disease, Type 3 (disorder)
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
|
11933202 |
2002 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
CTD_human |
Anti-apoptotic and Beneficial Metabolic Activities of Resveratrol in Type II Gaucher Disease.
|
26027833 |
2015 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
|
30712880 |
2019 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
Biomarker
|
disease |
CTD_human |
Glucosylceramide metabolism is regulated during normal and hormonally stimulated epidermal barrier development in the rat.
|
9101438 |
1997 |
Gaucher Disease, Type 3 (disorder)
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
|
8780099 |
1996 |