| Refsum's disease |
(Ref
출처: www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspz...
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| Refsum's d. |
an autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid α-hydroxylase results in accumulation of phytanic acid; it is manifest chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia, and persistent elevation of protein in cerebrospinal fluid; there may also be ichthyosis, nerve deafness, and electrocardiographic abnormalities. Called also phytanic acid storage d., and heredopathia atactica polyneuritiformis.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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| Refsum's disease (syndrome) |
see under disease.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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