Tranchant, C
A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation. [electronic resource]
- Neurology Oct 1993
- 2044-8 p. digital
Publication Type: Case Reports; Journal Article
0028-3878
10.1212/wnl.43.10.2044 doi
Adolescent
Adult
Brain--pathology
Consanguinity
Electroencephalography
Female
Genetic Carrier Screening
Hereditary Sensory and Motor Neuropathy--genetics
Homozygote
Humans
Male
Microbodies--metabolism
Neural Conduction
Pedigree
Peripheral Nerves--physiopathology
Phytanic Acid--metabolism
Pipecolic Acids--metabolism