Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.

Hiroshi Hasegawa,Yoshihiko Shinohara,Sayako Nozaki,Makiko Nakamura,Koei Oh,Osamu Namiki,Kiyotaka Suzuki,Akihiko Nakahara,Mari Miyazawa,Ken Ishikawa,Takahiro Himeno,Sayaka Yoshida,Takanori Ueda,Yasukazu Yamada,Kimiyoshi Ichida

Journal of Chromatography B（2015）

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摘要

•We have developed a LC–MS/MS method for determining erythrocyte PRPP concentration.•This method is selective and sensitive enough to measure erythrocyte PRPP concentration.•Erythrocyte PRPP level from patients with HPRT deficiency was correlated with the disease severity.

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关键词

PRPP,LC–MS/MS,HPRT,Lesch–Nyhan disease

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