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线粒体疾病中脂肪酸氧化受损。

Compromised fatty acid oxidation in mitochondrial disorders.

作者信息

Hagenfeldt L

机构信息

Department of Laboratory Sciences and Technology, Karolinska Institutet, Huddinge University Hospital, Sweden.

出版信息

J Inherit Metab Dis. 1998 Aug;21(5):613-7. doi: 10.1023/a:1005431424744.

Abstract

Measurement of palmitate oxidation by the tritium release method in cultured fibroblasts or in lymphocytes detects patients with mitochondrial beta-oxidation disorders and in addition many patients with dysfunction of the respiratory chain. The clinical presentation and studies of metabolite levels in serum and urine are valuable in the differential diagnosis between these two groups of disorders.

摘要

通过氚释放法测量培养的成纤维细胞或淋巴细胞中的棕榈酸氧化,可检测出线粒体β氧化障碍患者,此外还能检测出许多呼吸链功能障碍患者。血清和尿液中代谢物水平的临床表现及研究,对这两组疾病的鉴别诊断很有价值。

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