Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency.

Bertini, E

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