Compromised fatty acid oxidation in mitochondrial disorders

Compromised fatty acid oxidation in mitochondrial disorders
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DOI:
10.1023/a:1005431424744
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发表时间:
1998-08-01
影响因子:
4.2
通讯作者:
Hagenfeldt, L
Hagenfeldt, L
中科院分区:
医学2区
文献类型:
--
作者:
Hagenfeldt, L

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在培养的成纤维细胞或淋巴细胞中通过氚释放法测量棕榈酸氧化检测线粒体β-氧化障碍的患者,此外还有许多呼吸链功能障碍的患者。临床表现和研究的代谢物水平在血清和尿液中是有价值的这两组疾病之间的鉴别诊断。
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.