Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:physicist
|
| gptkbp:advocacy |
gptkb:National_Organization_for_Rare_Disorders
gptkb:Niemann-Pick_Disease_Foundation |
| gptkbp:ageLimit |
Infancy
|
| gptkbp:associatedWith |
Cholesterol metabolism
Sphingomyelin_accumulation |
| gptkbp:causedBy |
SMPD1 gene mutation
|
| gptkbp:clinicalTrials |
Disease management strategies
Patient quality of life Novel therapies |
| gptkbp:community_service |
Cholesterol levels
Lipid profiles Sphingomyelin_levels |
| gptkbp:communityEngagement |
Seizures
Developmental delays Hypotonia Respiratory issues Difficulty swallowing |
| gptkbp:demographics |
Rare disease
|
| gptkbp:diseaseResistance |
Genetic testing
|
| gptkbp:firstDescribedBy |
gptkb:Albert_Niemann
1914 |
| gptkbp:geneticDiversity |
Risk assessment
Support resources Prenatal testing Family planning Carrier_testing |
| gptkbp:hasCapacity |
Support groups
Online forums Educational resources |
| gptkbp:hasService |
gptkb:CT_scan
Ultrasound MRI |
| https://www.w3.org/2000/01/rdf-schema#label |
Niemann-Pick disease type A
|
| gptkbp:impact |
Supportive care
Symptomatic treatment |
| gptkbp:isA |
Lipid storage disease
|
| gptkbp:legalEvent |
Shortened lifespan
|
| gptkbp:nobleFamily |
Autosomal recessive
|
| gptkbp:relatedPatent |
gptkb:Niemann-Pick_disease_type_C
gptkb:Niemann-Pick_disease_type_B |
| gptkbp:research |
Government grants
Non-profit organizations Pharmaceutical companies |
| gptkbp:researchFocus |
Gene therapy
Stem cell therapy Enzyme replacement therapy |
| gptkbp:symptoms |
Enlarged liver
Enlarged spleen Failure to thrive Neurological decline |