[Refsum's disease. Hereditary atactic polyneuritis].
As it is possible to prevent progression of the disease by early treatment all patients with otherwise unexplained retinitis pigmentosa should be screened for phytanic acid accumulation in the plasma.
Brandt
N J
NJ
Christensen
E
E
Rosenberg
T
T
D006801:Humans; D008297:Male; D008875:Middle Aged; D010831:Phytanic Acid / Q000032:analysis; D012035:Refsum Disease / Q000235:genetics*
D010831:Phytanic Acid
Refsum's sygdom. Heredopathia atactica polyneuritiformis.