Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry

la Marca Giancarlo; Giocaliere Elisa; Malvagia Sabrina; Villanelli Fabio; Funghini Silvia; Ombrone Daniela; Della Bona Maria; Forni Giulia; Canessa Clementina; Ricci Silvia; Romano Francesca; Guerrini Renzo; Resti Massimo; Azzari Chiara

首页> 外文期刊>Clinical chemistry and laboratory medicine: CCLM >Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry

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Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry

机译：液相色谱-串联质谱扩大新生儿筛查过程中鉴定嘌呤核苷磷酸化酶缺乏症患者的第二层试验的开发和验证

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Background: Purine nucleoside phosphorylase (PNP) deficiency has been recently introduced in the newborn screening program in Tuscany. In order to improve the PNP screening efficiency, we developed a 2nd tier test to quantify PNP primary markers deoxyguanosine (dGuo) and deoxyinosine (dIno).

机译：背景：最近在托斯卡纳的新生儿筛查计划中引入了嘌呤核苷磷酸化酶（PNP）缺乏症。为了提高PNP筛选效率，我们开发了第二层测试来量化PNP主要标志物脱氧鸟苷（dGuo）和脱氧肌苷（dIno）。

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《Clinical chemistry and laboratory medicine: CCLM》 |2016年第4期|共6页
作者
la Marca Giancarlo; Giocaliere Elisa; Malvagia Sabrina; Villanelli Fabio; Funghini Silvia; Ombrone Daniela; Della Bona Maria; Forni Giulia; Canessa Clementina; Ricci Silvia; Romano Francesca; Guerrini Renzo; Resti Massimo; Azzari Chiara;
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正文语种 eng
中图分类诊断学;
关键词
2nd tier test; dried blood spot; newborn screening; purine nucleoside phosporilase; purine nucleoside phosphorylase deficiency; severe combined immunodeficiency; tandem mass spectrometry;

机译：第2层检测;干血斑;新生儿筛查;嘌呤核苷磷酸化酶;嘌呤核苷磷酸化酶缺乏症;严重的联合免疫缺陷;串联质谱;

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1. Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry [J] . la Marca Giancarlo, Giocaliere Elisa, Malvagia Sabrina, Clinical chemistry and laboratory medicine: CCLM . 2016,第4期

机译：液相色谱-串联质谱扩大新生儿筛查过程中鉴定嘌呤核苷磷酸化酶缺乏症患者的第二层试验的开发和验证
2. ELISA screening and liquid chromatography-tandem mass spectrometry confirmation of chloramphenicol residues in chicken muscle, and the validation of a confirmatory method by liquid chromatography-tandem mass spectrometry [J] . Yibar A., Cetinkaya F., Soyutemiz G. E. . Poultry Science . 2011,第11期

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3. Identification of Purine Nucleoside Phosphorylase Deficiency in Dried Blood Spots by a Non-Radiochemical Assay Using Reversed-Phase High-Performance Liquid Chromatography [J] . A.B.P.vanKuilenburgaL.ZoetekouwaJ.MeijeraT.W.Kuijpersb Nucleosides, Nucleotides and Nucleic Acids . 2010,第4a6期

机译：反相高效液相色谱非放射化学分析鉴定干血斑中嘌呤核苷磷酸化酶缺乏症
4. Progress Toward Newborn Screening for X-linked Adrenoleukodystrophy (X-ALD) via Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) [C] . Walter C. Hubbard, Ann B. Moser, Anita K. Liu, ASMS Conference on Mass Spectrometry and Allied Topics . 2007

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5. Method development and validation for the quantification of eight synthetic piperazines in blood and urine using liquid chromatography-tandem mass spectrometry (UFLC-ESI-MS/MS) [D] . LeBlanc, Raquel Alecia. 2016

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6. Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease [O] . Shu-Chuan Chiang, Pin-Wen Chen, Wuh-Liang Hwu, 2018

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7. Rapid 2nd-Tier Test for Measurement of 3-OH-Propionic and Methylmalonic Acids on Dried Blood Spots: Reducing the False-Positive Rate for Propionylcarnitine during Expanded Newborn Screening by Liquid Chromatography– Tandem Mass Spectrometry [O] . Maria Alice Donati, Enrico Zammarchi 2015

机译：测定干血斑中3-OH-丙酸和甲基丙二酸的快速二级试验：通过液相色谱 - 串联质谱法降低新生儿筛选中丙酰肉碱的假阳性率

Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry

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