对两名先天性黄嘌呤氧化酶缺乏症（黄嘌呤尿症）患者骨骼肌中次黄嘌呤和黄嘌呤（“氧嘌呤”）的质谱鉴定。
The mass-spectrometirc identification of hypoxanthine and xanthine ('oxypurines') in skeletal musce from two patients with congenital xanthine oxidase deficiency (xanthinuria).
作者信息
Prker R, Snedden W, Watts R W
出版信息
Biochem J. 1969 Oct;115(1):103-8. doi: 10.1042/bj1150103.
Abstract
- The presence of hypoxanthine and xanthine in the skeletal muscle of two patients with congenital xanthine oxidase deficiency (xanthinuria) was demonstrated by high-resolution mass spectrometry. 2. Evidence was obtained for the presence of a trace of hypoxanthine only in normal muscle. 3. Dry pulverized tissue was introduced directly into the mass spectrometer and preliminary chemical processing of the tissue was therefore unnecessary. 4. The criteria for the mass-spectrometric identification of hypoxanthine and xanthine in the tissue and the significance of the observations are discussed.
摘要
- 高分辨率质谱法证实，两名先天性黄嘌呤氧化酶缺乏症（黄嘌呤尿症）患者的骨骼肌中存在次黄嘌呤和黄嘌呤。2. 仅在正常肌肉中发现了痕量次黄嘌呤存在的证据。3. 将干燥的粉碎组织直接引入质谱仪，因此无需对组织进行初步化学处理。4. 讨论了组织中次黄嘌呤和黄嘌呤的质谱鉴定标准以及这些观察结果的意义。
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