婴儿致命性脂质贮积性肌病：病例报告及尸检结果
Fatal lipid storage myopathy in an infant: case report and autopsy findings.
作者信息
Esiri M M, Bower B D, Ross B D
出版信息
J Neurol Sci. 1979 Mar;41(1):93-100. doi: 10.1016/0022-510x(79)90143-6.
PMID:438846
Abstract
The clinical presentation, muscle biopsy appearances and autopsy findings in a male infant dying at the age of 13 weeks with a lipid storage myopathy are described. The primary metabolic abnormality was not elucidated but was thought not to be carnitine deficiency.
摘要
本文描述了一名13周龄死于脂质贮积性肌病的男婴的临床表现、肌肉活检结果及尸检发现。主要代谢异常未明确，但认为不是肉碱缺乏。
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