Statements (59)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:physicist
|
| gptkbp:advertising |
important
|
| gptkbp:associated_with |
sphingomyelin accumulation
Niemann-Pick_type_A |
| gptkbp:built |
underfunding
|
| gptkbp:causedBy |
deficiency_of_acid_sphingomyelinase
|
| gptkbp:clinicalTrials |
ongoing
variable multidisciplinary approach developed for new therapies |
| gptkbp:collaborations |
encouraged
|
| gptkbp:community_involvement |
beneficial
|
| gptkbp:community_service |
available
important under investigation critical for management |
| gptkbp:complications |
gastrointestinal complications
pulmonary complications neurological complications |
| gptkbp:demographics |
rare
|
| gptkbp:diseaseResistance |
genetic testing
enzyme assay |
| gptkbp:educational_programs |
available for families
|
| gptkbp:enrollment |
varied
|
| gptkbp:feedback |
variable
|
| gptkbp:funding |
limited
|
| gptkbp:geneticDiversity |
recommended
identified SMPD1 gene |
| https://www.w3.org/2000/01/rdf-schema#label |
Niemann-Pick disease type B
|
| gptkbp:impact |
children
adults limited supportive care enzyme replacement therapy |
| gptkbp:introduced |
in the 1960s
|
| gptkbp:is_a_route_for |
not fully understood
|
| gptkbp:isA |
Lipid storage disease
|
| gptkbp:judgingCriteria |
imaging studies
clinical evaluation |
| gptkbp:lifespan |
varies
|
| gptkbp:localHistory |
important for diagnosis
|
| gptkbp:nobleFamily |
autosomal recessive
|
| gptkbp:notableWork |
focused on treatment development
|
| gptkbp:providesOpportunitiesFor |
helpful for families
|
| gptkbp:registration |
established
|
| gptkbp:research |
ongoing
can confirm diagnosis |
| gptkbp:research_focus |
gene therapy
new treatments |
| gptkbp:seniorCareer |
often needed
|
| gptkbp:symptoms |
critical
childhood growth retardation gradual lung disease hepatosplenomegaly important for early diagnosis |