Refsum's disease in an Arabian family [2]

Journal of Neurology Neurosurgery and Psychiatry

Volumn 70, Issue 4, 2001, Pages 564-565

  Fertl, E ^a   Foldy D ^a   Vass, K ^a   Auff, E ^a   Vass, C ^a   Molzer, B ^a   Bernheimer, H ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

PHYTANIC ACID;

ADULT; CASE REPORT; CLINICAL EXAMINATION; EGYPT; HUMAN; LETTER; MALE; PHENOTYPE; PRIORITY JOURNAL; REFSUM DISEASE; SYNDROME DELINEATION; TOE MALFORMATION;

ADULT; ARABS; HUMANS; MALE; REFSUM DISEASE;

EID: 0035057092     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.70.4.564     Document Type: Letter

References (5)

1. Heredopathia atactica polyneuritiformis (Refsum disease)
2. Identification of PAHX, a Refsum disease gene
3. Diet and Refsum's disease. The determination of phytanic acid and phytol in certain foods and the application of this knowledge to the choice of suitable convenience foods for patients with Refsum's disease
4. Heredopathia atactica polyneuritiformis: A familial syndrome not hitherto described. A contribution to the clinical study of the hereditary diseases of the nervous system
5. Di-, mono- and non-phyranyl triglycerides in the serum: A sensitive parameter of the phytanic acid accumulation in Refsum's disease