Statements (56)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:healthcare_organization
|
| gptkbp:bfsLayer |
5
|
| gptkbp:bfsParent |
gptkb:Myozyme
|
| gptkbp:advocates_for |
critical for awareness
|
| gptkbp:affects |
muscle tissue
|
| gptkbp:associated_with |
glycogen storage disease type II
|
| gptkbp:caused_by |
deficiency of acid alpha-glucosidase
|
| gptkbp:clinical_trial |
ongoing
phase 1 phase 2 phase 3 |
| gptkbp:community_impact |
affects all ethnicities
|
| gptkbp:community_support |
essential for patients
|
| gptkbp:current_use |
infantile Pompe disease
|
| gptkbp:descendant |
autosomal recessive
|
| gptkbp:first_described_by |
gptkb:1963
|
| gptkbp:genetic_diversity |
recommended
|
| gptkbp:historical_significance |
first enzyme replacement therapy approved
|
| https://www.w3.org/2000/01/rdf-schema#label |
late-onset Pompe disease
|
| gptkbp:is_a_resource_for |
available for patients
|
| gptkbp:is_popular_in |
rare disease
|
| gptkbp:lifespan |
varies by severity
|
| gptkbp:premiered_on |
adulthood
|
| gptkbp:provides_information_on |
developed for management
|
| gptkbp:public_awareness |
important
|
| gptkbp:receives_funding_from |
increasing
|
| gptkbp:research_areas |
gptkb:Research_Institute
European Pompe Consortium Pompe Disease Registry |
| gptkbp:research_focus |
gptkb:physicist
new enzyme therapies |
| gptkbp:scholarships |
patient advocacy groups
important for families Pompe Disease Association |
| gptkbp:screenings |
gptkb:family
|
| gptkbp:side_effect |
gptkb:significant
|
| gptkbp:social_responsibility |
genetic testing
clinical evaluation biochemical analysis enzyme assay molecular genetic testing |
| gptkbp:supports |
necessary
|
| gptkbp:symptoms |
gptkb:hospital
fatigue difficulty walking muscle weakness difficulty swallowing exercise intolerance multidisciplinary approach respiratory issues muscle cramps |
| gptkbp:treatment |
gptkb:physicist
nutritional support physical therapy supportive care occupational therapy |