TY  - GEN
AU  - Dotti,M T
AU  - Rossi,A
AU  - Rizzuto,N
AU  - Hayek,G
AU  - Bardelli,N
AU  - Bardelli,A M
AU  - Federico,A
TI  - Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study
SN  - 0014-3022
PY  - 1985///0430
KW  - Adolescent
KW  - Atrophy
KW  - Cerebellum
KW  - pathology
KW  - Diagnosis, Differential
KW  - Electromyography
KW  - Female
KW  - Humans
KW  - Microscopy, Electron
KW  - Motor Neurons
KW  - physiology
KW  - Muscles
KW  - innervation
KW  - Nerve Fibers, Myelinated
KW  - ultrastructure
KW  - Neural Conduction
KW  - Pedigree
KW  - Peroneal Nerve
KW  - Phenotype
KW  - Phytanic Acid
KW  - metabolism
KW  - Refsum Disease
KW  - genetics
KW  - Tomography, X-Ray Computed
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1159/000115767
ER  -