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采用在线解吸结合高分辨色谱和质谱直接分析干血斑,用于定量测定枫糖尿症生物标志物亮氨酸和异亮氨酸。

Direct analysis of dried blood spots by in-line desorption combined with high-resolution chromatography and mass spectrometry for quantification of maple syrup urine disease biomarkers leucine and isoleucine.

机构信息

Department of Pharmaceutics, Virginia Commonwealth University Medical Center, PO Box 980533, Richmond, VA 23298-0533, USA.

出版信息

Anal Bioanal Chem. 2011 Apr;400(1):237-44. doi: 10.1007/s00216-011-4740-x. Epub 2011 Feb 18.

DOI:10.1007/s00216-011-4740-x
PMID:21331490
Abstract

A in-line desorption device was developed, which allows for direct analysis of dried blood spots eliminating the need for punching disks from the filter paper cards. Using this device, we have validated a method to quantify biomarkers related to maple syrup urine disease (MSUD), a metabolism disorder that often requires a second-tier test for confirmation. Direct analysis of newborn screening cards is conducted in-line with a high-resolution chromatographic separation with mass spectrometry using electrospray ionization and multiple-reaction monitoring. Quantification of leucine and isoleucine using an isotopically labeled internal standard encompasses a range suitable for MSUD assessment. Precision and accuracy of the technique was acceptable with relative standard deviations within 10% at three fortified concentrations and an unfortified level. A post-column infusion test shows minimum matrix suppression was observed using this direct sampling technique.

摘要

我们开发了一种在线解吸装置,它允许直接分析干血斑,从而无需从滤纸卡上打孔。使用该装置,我们已经验证了一种定量分析与枫糖尿症(MSUD)相关生物标志物的方法,MSUD 是一种代谢紊乱疾病,通常需要进行二级测试来确认。直接分析新生儿筛查卡,与使用电喷雾电离和多反应监测的高分辨率色谱分离进行在线分析。使用同位素标记的内标定量分析亮氨酸和异亮氨酸,涵盖了适合 MSUD 评估的范围。该技术的精密度和准确度可以接受,在三个加标浓度和未加标水平下,相对标准偏差在 10%以内。柱后注入测试表明,使用这种直接采样技术观察到最小的基质抑制。

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1
Direct analysis of dried blood spots by in-line desorption combined with high-resolution chromatography and mass spectrometry for quantification of maple syrup urine disease biomarkers leucine and isoleucine.采用在线解吸结合高分辨色谱和质谱直接分析干血斑,用于定量测定枫糖尿症生物标志物亮氨酸和异亮氨酸。
Anal Bioanal Chem. 2011 Apr;400(1):237-44. doi: 10.1007/s00216-011-4740-x. Epub 2011 Feb 18.
2
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).用于定量干血斑中别异亮氨酸和支链氨基酸的二线检测,以改进枫糖尿症(MSUD)的新生儿筛查。
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An improved ultra performance liquid chromatography-tandem mass spectrometry method for the determination of alloisoleucine and branched chain amino acids in dried blood samples.一种改良的超高效液相色谱-串联质谱法,用于测定干血样中的异亮氨酸和支链氨基酸。
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Diagnosis of maple syrup urine disease by determination of L-valine, L-isoleucine, L-leucine and L-phenylalanine in neonatal blood spots by gas chromatography-mass spectrometry.通过气相色谱-质谱法测定新生儿血斑中的L-缬氨酸、L-异亮氨酸、L-亮氨酸和L-苯丙氨酸来诊断枫糖尿症。
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Quantification of branched-chain amino acids in blood spots and plasma by liquid chromatography tandem mass spectrometry for the diagnosis of maple syrup urine disease.采用液相色谱串联质谱法对血斑和血浆中的支链氨基酸进行定量分析,用于枫糖尿症的诊断。
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Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.通过串联质谱法对新生儿血斑中的枫糖尿症进行快速诊断。
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A simple and selective method for the measurement of leucine and isoleucine from plasma using electrospray ionization tandem mass spectrometry.一种使用电喷雾电离串联质谱法从血浆中测量亮氨酸和异亮氨酸的简单且具选择性的方法。
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Rapid automated quantitation of isoleucine, leucine, tyrosine and phenylalanine from dried blood filter paper specimens.从干血滤纸片标本中快速自动定量异亮氨酸、亮氨酸、酪氨酸和苯丙氨酸。
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Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.枫糖尿症:进一步的证据表明,新生儿筛查可能无法识别变异形式。
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采用高效液相色谱-串联质谱法比较血浆、脑脊液和干血斑中对乙酰氨基酚的定量分析。
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