Lancet. 1979 Mar 17;1(8116):575-8.

Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange.

Gibberd FB, Billimoria JD, Page NG, Retsas S.

Abstract

A patient with severe heredopathia atactica polyneuritiformis (Refsum's disease) has responded well to treatment by large-volume plasma-exchange. The dietary control of the disease has been shown to depend not only on a diet low in phytanic acid, but also on one high in calories, which prevents mobilisation of phytanic acid from fat stores.

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Refsum's disease: management by diet and plasmapheresis. [Eur Neurol. 1985]
Refsum's disease: management by diet and plasmapheresis.
Hungerbühler JP, Meier C, Rousselle L, Quadri P, Bogousslavsky J. Eur Neurol. 1985; 24(3):153-9.
[Heredopathia atactica polyneuritiformis: phytanic acid storage disease (Refsum's syndrome). Effect of diet therapy on retinal and cochlear changes]. [Neurol Neurochir Pol. 1984]
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