Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. [electronic resource]
- European journal of pediatrics Feb 1992
- 121-6 p. digital
Publication Type: Case Reports; Journal Article
0340-6199
10.1007/BF01958956 doi
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