Art

J-GLOBAL ID：201502206540126956   Reference number：15A0230228

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

ヒポキサンチン-グアニンホスホリボシルトランスフェラーゼ欠損患者赤血球中の5-ホスホリボシル-1-ピロホスファートの親水性相互作用液体クロマトグラフィー-タンデム質量分析による定量

Author (15)： HASEGAWA Hiroshi (Dep. of Pathophysiology, School of Pharmacy, Tokyo Univ. of Pharmacy and Life Sciences, Tokyo, JPN) ,  SHINOHARA Yoshihiko (Dep. of Pathophysiology, School of Pharmacy, Tokyo Univ. of Pharmacy and Life Sciences, Tokyo, JPN) ,  NOZAKI Sayako (Dep. of Pathophysiology, School of Pharmacy, Tokyo Univ. of Pharmacy and Life Sciences, Tokyo, JPN) ,  NAKAMURA Makiko (Dep. of Pathophysiology, School of Pharmacy, Tokyo Univ. of Pharmacy and Life Sciences, Tokyo, JPN) ,  OH Koei (Dep. of Orthopedics, Showa Univ. Yokohama Northern Hospital, Yokohama, JPN) ,  NAMIKI Osamu (Dep. of Orthopedics, Showa Univ. School of Medicine, Tokyo, JPN) ,  SUZUKI Kiyotaka (Div. of Pediatrics, Toyohashi Medical Center, Aichi, JPN) ,  NAKAHARA Akihiko (Div. of Pediatrics, Fac. of Medicine, Univ. of Miyazaki, Miyazaki, JPN) ,  MIYAZAWA Mari (Div. of Pediatrics, Kochi Health Sciences Center, Kochi, JPN) ,  ISHIKAWA Ken (Dep. of Pediatrics, Iwate Medical Univ., Iwate, JPN) ,  HIMENO Takahiro (Dep. of Neurology, Brain Attack Center Ota Memorial Hospital, Hiroshima, JPN) ,  YOSHIDA Sayaka (Dep. of Pediatrics, Nara Prefectural General Medical Center, Nara, JPN) ,  UEDA Takanori (First Dep. of Internal Medicine, Fac. of Medical Sciences, Univ. of Fukui, Fukui, JPN) ,  YAMADA Yasukazu (Dep. of Genetics, Inst. for Developmental Res., Aichi Human Serv. Center, Aichi, JPN) ,  ICHIDA Kimiyoshi (Dep. of Pathophysiology, School of Pharmacy, Tokyo Univ. of Pharmacy and Life Sciences, Tokyo, JPN)
Material： Journal of Chromatography B  (Journal of Chromatography B. Analytical Technologies in the Biomedical and Life Sciences)
Volume： 976-977  Page： 55-60  Publication year： Jan. 22, 2015 
JST Material Number： W0571A  ISSN： 1570-0232  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： hypoxanthine phosphoribosyltransferase ,  nutrition disorder ,  enzymoprivicness ,  inborn errors of metabolism ,  liquid chromatography ,  *LC-MS analysis ,  *tandem mass spectrometry ,  *quantitative analysis(analytical chemistry) ,  *erythrocyte ,  *biomarker ,  clinical laboratory test ,  phenotype ,  Lesch-Nyhan syndrome ,  selected ion monitoring
Semi thesaurus term： hypoxanthine phosphoribosyl transferase ,  *LC-MS/MS analysis ,  Total hypoxanthine-guanine phosphoribosyl transferase deficiency ,  Partial hypoxanthine-guanine phosphoribosyl transferase deficiency ,  hydrophilic interaction liquid chromatography ,  multiple-reaction monitoring

JST classification (3)： Blood tests(=hematologic tests)  (GC02050D) ,  Physical analysis of organic compounds  (CC03034A) ,  Chromatography and electrophoretic analysis of organic compounds  (CC04034H)

Substance index (1)： Phosphoribosyl Pyrophosphate

Reference (29)：

• R. Fu, I. Ceballos-Picot, R.J. Torres, L.E. Larovere, Y. Yamada, K.V. Nguyen, M. Hegde, J.E. Visser, D.J. Schretlen, W.L. Nyhan, J.G. Puig, P.J. O'Neill, H.A. Jinnah, for the Lesch-Nyhan Disease International Study Group, Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder, Brain 137 (2014) 1282-1303.
• M. Lesch, W.L. Nyhan, A familial disorder of uric acid metabolism and central nervous system function, Am. J. Med. 36 (1964) 561-570.
• W.N. Kelley, F.M. Rosenbloom, J.F. Henderson, J.E. Seegmiller, A specific enzyme defect in gout associated with overproduction of uric acid, Proc. Natl. Acad. Sci. U. S. A. 57 (1967) 1735-1739.
• R.B. Gordon, L. Thompson, B.T. Emmerson, Erythrocyte phosphoribosylpyrophosphate concentrations in heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency, Metabolism 23 (1974) 921-927.
• J.H. Hersh, T. Page, M.E. Hand, J.E. Seegmiller, W.L. Nyhan, B. Weisskopf, Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency, Pediatr. Neurol. 2 (1986) 302-304.

Terms in the title (9)： ヒポキサンチン ,  グアニンホスホリボシルトランスフェラーゼ ,  欠損 ,  患者 ,  赤血球 ,  5-ホスホリボシル-1-ピロホスファート ,  親水性相互作用 ,  液体クロマトグラフィー-タンデム質量分析 ,  定量