Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0038379 (
strabismus
)
9,317
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Peroxisomal bifunctional enzyme
complex deficiency is a recently recognized abnormality of fatty acid metabolism. We herein present the association of a flecked retina with
peroxisomal bifunctional enzyme
deficiency, a clinical association not previously reported. We suggest the finding of a flecked retina in an infant presenting with hypotonia, seizures, and failure to thrive is highly suggestive of this diagnosis.
J Pediatr Ophthalmol
Strabismus
PMID:Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings. 762 69
