Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. [electronic resource]
Producer: 19920402Description: 121-6 p. digitalISSN:- 0340-6199
- 3-Hydroxyacyl CoA Dehydrogenases -- deficiency
- Acyl-CoA Dehydrogenase, Long-Chain
- Biochemical Phenomena
- Biochemistry
- Biopsy
- Cardiomyopathy, Hypertrophic -- complications
- Fatty Acid Desaturases -- deficiency
- Female
- Fibroblasts -- enzymology
- Heart Failure -- etiology
- Hereditary Sensory and Motor Neuropathy -- complications
- Humans
- Infant
- Retinitis Pigmentosa -- complications
- Sural Nerve -- pathology
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Publication Type: Case Reports; Journal Article
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