Dotti, M T <br/><br/>
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study.  [electronic resource] 

 -  European neurology  1985 
 - 85-93 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0014-3022 
<br/><br/><label>Standard No.: </label>10.1159/000115767  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Atrophy<br/>Cerebellum--pathology<br/>Diagnosis, Differential<br/>Electromyography<br/>Female<br/>Humans<br/>Microscopy, Electron<br/>Motor Neurons--physiology<br/>Muscles--innervation<br/>Nerve Fibers, Myelinated--ultrastructure<br/>Neural Conduction<br/>Pedigree<br/>Peroneal Nerve--pathology<br/>Phenotype<br/>Phytanic Acid--metabolism<br/>Refsum Disease--genetics<br/>Tomography, X-Ray Computed