| 单词 | HMSN Type IV |
| 释义 | HMSN Type IV《英文msh词典》HMSN Type IV [同义词] HMSN Type IV [主题词] Refsum Disease [中文释义] HMSN Ⅳ型 [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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