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gptkbp:instance_of
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gptkb:Genetics
|
|
gptkbp:advocacy
|
gptkb:Krabbe_Disease_Research_Foundation
gptkb:The_Krabbe_Foundation
|
|
gptkbp:affects
|
gptkb:computer
|
|
gptkbp:associated_with
|
hypotonia
demyelination
psychomotor regression
|
|
gptkbp:caused_by
|
GALC gene mutation
|
|
gptkbp:clinical_trial
|
ongoing
hearing loss
difficulty swallowing
developmental delays
autonomic dysfunction
spasticity
abnormal reflexes
|
|
gptkbp:condition
|
gptkb:metachromatic_leukodystrophy
gptkb:muscular_dystrophy
|
|
gptkbp:diagnosis
|
clinical evaluation
newborn screening
biochemical testing
MRI findings
|
|
gptkbp:first_described_by
|
1916
|
|
gptkbp:funding
|
increasing
|
|
gptkbp:genetic_studies
|
available
recommended
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Krabbe disease
|
|
gptkbp:inherits_from
|
autosomal recessive
|
|
gptkbp:investigates
|
early diagnosis
long-term outcomes
treatment accessibility
|
|
gptkbp:is_involved_in
|
gptkb:Krabbe_Foundation
gptkb:The_Global_Foundation_for_Peroxisomal_Disorders
|
|
gptkbp:lifespan
|
varies by severity
|
|
gptkbp:named_after
|
Hans Krabbe
|
|
gptkbp:premiered_on
|
infancy
|
|
gptkbp:prevalence
|
1 in 100,000 births
|
|
gptkbp:public_awareness
|
gptkb:October
important
|
|
gptkbp:research_focus
|
gptkb:gene_therapy
gptkb:Biology
|
|
gptkbp:research_institutes
|
gptkb:University_of_California
gptkb:National_Institutes_of_Health
|
|
gptkbp:risk_factor
|
family history
ethnic background
|
|
gptkbp:symptoms
|
seizures
irritability
muscle weakness
vision loss
loss of motor skills
|
|
gptkbp:treatment
|
palliative care
supportive care
rehabilitation therapy
stem cell transplant
medications for seizures
|
|
gptkbp:type
|
gptkb:muscular_dystrophy
|
|
gptkbp:bfsParent
|
gptkb:disease
|
|
gptkbp:bfsLayer
|
4
|