Refsum's disease (heredophatia atactica polyneuritiformis): Evolution 35 years after diagnosis;Maladie de Refsum avec 35 ans de recul

Revue Neurologique

Volumn 158, Issue 2, 2002, Pages 225-229

  Marcaud, V ^a   Defontaines, B ^a   Jung, P ^a   Degos, C F ^a  

^a SAINT JOSEPH HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FATTY ACID; PHYTANIC ACID;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BELL PALSY; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CLINICAL FEATURE; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ENZYME DEFICIENCY; FACIAL NERVE PARALYSIS; FATTY ACID OXIDATION; FEMALE; FOLLOW UP; HUMAN; LONG TERM CARE; MUSCLE STRENGTH; PERIPHERAL NEUROPATHY; PROTEIN DETERMINATION; REFSUM DISEASE; RETINITIS PIGMENTOSA; SENSORY DYSFUNCTION;

ADULT; ATAXIA; CATARACT; DIET; DISEASE PROGRESSION; ELECTROMYOGRAPHY; FACIAL PARALYSIS; FEMALE; FOLLOW-UP STUDIES; HUMANS; MIXED FUNCTION OXYGENASES; PARESTHESIA; PEROXISOMES; PHYTANIC ACID; REFSUM DISEASE; RETINITIS PIGMENTOSA;

EID: 0036200755     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. Phytanic acid storage disease: Hearing maintained after 15 years of dietary treatment
2. Heredopathia atactica polyneuritiformis (Refsum's disease) treated by diet and plasma-exchange
3. Heredopathia atactica polyneuritiformis (Refsum's disease): A biochemically well-defined disease with a specific dietary treatment
4. Human phytanoyl-CoA hydroxylase: Resolution of the gene structure and the molecular basis of Refsum's disease
5. Polyneuropathie sensitive pauci-symptomatique au cours d'une maladie de Refsum
6. La maladie de Refsum. Corrélations épidémiologiques, cliniques et biologiques. Six cas
7. Heredopathia atactica polyneuritiformis a familial syndrome not hitherto described. A contribution to the clinical study of the hereditary diseases of the nervous system
8. Phytanic acid in patients with Refsum's syndrome and response to dietary treatment