| 单词 | Refsum Thiebaut Syndrome |
| 释义 | Refsum Thiebaut Syndrome《英文msh词典》Refsum Thiebaut Syndrome [入口词] Refsum Thiebaut Syndrome [主题词] Refsum Disease [英文释义] An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY,sensorineural DEAFNESS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and cardiomyopathy. CEREBROSPINAL FLUID PROTEINS and serum PHYTANIC ACID are generally elevated. This condition is associated with the impaired metabolism of phytanic acid in PEROXISOMES. (From Joynt,Clinical Neurology,1991,Ch37,p58-9; Rev Med Interne 1996;17(5):391-8) |
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