弗里德赖希共济失调的生化与临床研究。
Biochemical and clinical studies of Friedreich's ataxia.
作者信息
Purkiss P, Baraitser M, Borud O, Chalmers R A
出版信息
J Neurol Neurosurg Psychiatry. 1981 Jul;44(7):574-82. doi: 10.1136/jnnp.44.7.574.
Abstract
A series of biochemical tests aimed at elucidating the fundamental cause has been applied to 20 patients with Friedreich's ataxia. Special emphasis was placed upon pyruvate metabolism. The results demonstrate no precisely identifiable defect in the metabolism of pyruvate but indicate an abnormality in glucose uptake and metabolism.
摘要
一系列旨在阐明根本病因的生化检测已应用于20例弗里德赖希共济失调患者。特别强调了丙酮酸代谢。结果表明丙酮酸代谢没有确切可识别的缺陷，但显示葡萄糖摄取和代谢存在异常。
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