Peroxisomal bifunctional enzyme complex deficiency with associated retinal findings. [electronic resource]
Producer: 19950907Description: 125-7 p. digitalISSN:- 0191-3913
- 3-Hydroxyacyl CoA Dehydrogenases -- deficiency
- Diagnosis, Differential
- Enoyl-CoA Hydratase -- deficiency
- Failure to Thrive -- complications
- Female
- Fundus Oculi
- Humans
- Infant, Newborn
- Isomerases -- deficiency
- Microbodies -- enzymology
- Multienzyme Complexes -- deficiency
- Muscle Hypotonia -- complications
- Peroxisomal Bifunctional Enzyme
- Retina -- pathology
- Retinal Diseases -- complications
- Seizures -- complications
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Publication Type: Case Reports; Journal Article
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