Phytanoyl–Coenzyme a Hydroxylase Deficiency — The Enzyme Defect in Refsum's Disease
- 10 July 1997
- journal article
- letter
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 337 (2) , 133-134
- https://doi.org/10.1056/nejm199707103370215
Abstract
Heredopathia atactica polyneuritiformis was first identified as a distinct clinical entity by Refsum in the 1940s. Patients with this disorder usually present in the second decade of life or later with visual difficulties, distal limb weakness, and ataxia. The syndrome is characterized by atypical retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, and high concentrations of protein in cerebrospinal fluid.1Keywords
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