| Autor: |
Eustis HS; Department of Ophthalmology, Ochsner Clinic, New Orleans, LA 70121, USA., Curry T, Superneau DW |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of pediatric ophthalmology and strabismus [J Pediatr Ophthalmol Strabismus] 1995 Mar-Apr; Vol. 32 (2), pp. 125-7. |
| DOI: |
10.3928/0191-3913-19950301-16 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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