A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation. [electronic resource]
Producer: 19931112Description: 2044-8 p. digitalISSN:- 0028-3878
- 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
No physical items for this record
Publication Type: Case Reports; Journal Article
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