|
gptkbp:instance_of
|
gptkb:physicist
|
|
gptkbp:advocates_for
|
active
|
|
gptkbp:associated_with
|
gptkb:healthcare_organization
gptkb:psychologist
|
|
gptkbp:category
|
gptkb:physicist
|
|
gptkbp:caused_by
|
glucocerebrosidase deficiency
|
|
gptkbp:clinical_trial
|
ongoing studies
various phases
|
|
gptkbp:demographics
|
more common in certain populations
|
|
gptkbp:descendant
|
autosomal recessive
|
|
gptkbp:duration
|
lifelong
|
|
gptkbp:first_described_by
|
gptkb:Philippe_Gaucher
|
|
gptkbp:genetic_diversity
|
recommended
|
|
gptkbp:healthcare
|
gptkb:battle
|
|
gptkbp:historical_significance
|
first lysosomal storage disorder identified
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Gaucher's disease
|
|
gptkbp:is_involved_in
|
gptkb:stock_market_index
|
|
gptkbp:is_popular_in
|
1 in 40,000 births
|
|
gptkbp:lifespan
|
normal with treatment
|
|
gptkbp:population
|
all ages
|
|
gptkbp:promoter
|
GBA
|
|
gptkbp:provides_information_on
|
established
|
|
gptkbp:public_awareness
|
important
|
|
gptkbp:receives_funding_from
|
increasing
|
|
gptkbp:research_areas
|
involved in studies
|
|
gptkbp:research_focus
|
gptkb:physicist
biomarkers
new enzyme therapies
|
|
gptkbp:risk_factor
|
family history
Ashkenazi Jewish descent
|
|
gptkbp:screenings
|
available for at-risk populations
|
|
gptkbp:side_effect
|
gptkb:significant
|
|
gptkbp:social_responsibility
|
gptkb:MRI
CT scan
genetic testing
blood test
|
|
gptkbp:specialties
|
gptkb:physicist
neurology
hematology
|
|
gptkbp:symptoms
|
gptkb:fandom
fatigue
neurological symptoms
bone pain
easy bruising
enlarged liver
enlarged spleen
gastrointestinal issues
pulmonary complications
|
|
gptkbp:treatment
|
gptkb:physicist
high
ongoing
variable
substrate reduction therapy
bone marrow transplant
improving with treatment
|
|
gptkbp:type
|
gptkb:Type_3
Type 1
Type 2
|
|
gptkbp:bfsParent
|
gptkb:Cerezyme
|
|
gptkbp:bfsLayer
|
5
|