英语词汇“Refsum-Thiebaut Syndrome”的意思、用法、释义、翻译、读音、例句、短语、词组-英汉翻译词典-罗兹网

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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