|
gptkbp:instance_of
|
gptkb:healthcare_organization
|
|
gptkbp:bfsLayer
|
5
|
|
gptkbp:bfsParent
|
gptkb:Myozyme
|
|
gptkbp:advocates_for
|
ongoing
exists
exist
|
|
gptkbp:affects
|
muscle strength
|
|
gptkbp:analyzes
|
highly variable presentation
|
|
gptkbp:associated_with
|
glycogen storage disease
|
|
gptkbp:caused_by
|
GAA gene mutation
|
|
gptkbp:clinical_trial
|
ongoing
variable
muscle weakness
failure to thrive
testing new therapies
hepatomegaly
for new treatments
enlarged heart
requires specialists
|
|
gptkbp:community_impact
|
profound
|
|
gptkbp:community_involvement
|
important
|
|
gptkbp:community_support
|
beneficial for families
|
|
gptkbp:current_use
|
gptkb:late-onset_Pompe_disease
|
|
gptkbp:descendant
|
autosomal recessive
|
|
gptkbp:education
|
critical
|
|
gptkbp:first_described_by
|
1950s
|
|
gptkbp:future_plans
|
focused on new therapies
|
|
gptkbp:genetic_diversity
|
gptkb:stock_market_index
recommended
important for families
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
infantile-onset Pompe disease
|
|
gptkbp:is_a
|
gptkb:physicist
|
|
gptkbp:is_a_basis_for
|
deficiency of acid alpha-glucosidase
|
|
gptkbp:is_a_resource_for
|
available for families
|
|
gptkbp:is_a_route_for
|
lysosomal storage disorder
|
|
gptkbp:is_involved_in
|
gptkb:stock_market_index
|
|
gptkbp:is_popular_in
|
rare disease
|
|
gptkbp:is_tested_for
|
GAA enzyme activity
|
|
gptkbp:lifespan
|
varies
|
|
gptkbp:population
|
infants
|
|
gptkbp:premiered_on
|
infancy
|
|
gptkbp:provides_information_on
|
developed
|
|
gptkbp:receives_funding_from
|
gptkb:stock_market_index
critical for advancements
|
|
gptkbp:registration
|
exists
|
|
gptkbp:research_areas
|
involved in studies
|
|
gptkbp:research_focus
|
gptkb:physicist
|
|
gptkbp:scholarships
|
important
essential for coping
|
|
gptkbp:screenings
|
newborn screening
|
|
gptkbp:side_effect
|
gptkb:significant
|
|
gptkbp:social_responsibility
|
genetic testing
enzyme assay
muscle biopsy
clinical and genetic
|
|
gptkbp:supports
|
necessary
|
|
gptkbp:symptoms
|
gptkb:hospital
respiratory distress
multidisciplinary approach
hypotonia
within first year of life
|
|
gptkbp:treatment
|
gptkb:physicist
ongoing
limited
supportive care
access to care
limited in some regions
improving with treatment
improves with early intervention
|