Abstract:
OBJECTIVES:Stable isotope dilution coupled with liquid chromatography-tandem mass spectrometry (LC-MS/MS) is the sensitive method for screening for various inherited metabolic disorders using dried blood spots (DBSs). We present a method for LC-MS/MS determination of succinyladenosine (SAdo) and succinylaminoimidazole carboxamide riboside (SAICAr), biomarkers for adenylosuccinate lyase deficiency (dADSL), in DBS. DESIGN AND METHODS:SAICAr and SAdo were separated on a Symmetry-C18 column and detected using positive electrospray ionisation in selected reaction monitoring mode. The quantification was performed using the isotopically labelled internal standards SAdo-(13)C4 and SAICAr-(13)C4, which were prepared via ADSL-catalysed reactions of fumarate-(13)C4 with adenosine monophosphate and aminoimidazole carboxamide ribotide, respectively, and subsequent alkaline phosphatase-catalysed dephosphorylation of the resulting products. RESULTS:The detection of SAICAr and SAdo in DBS was linear over the range of 0-25μmol/L. The respective intra-assay and inter-assay imprecision values were less than 10.7% and 15.2% for SAICAr and 4.7% and 5.7% for SAdo. The recoveries from DBS spiked with different concentrations of SAICAr and SAdo were between 94% and 117%. The concentrations of SAICAr and SAdo were higher in the archived DBS from dADSL patients (SAICAr, 0.03-4.7μmol/L; SAdo, 1.5-21.3μmol/L; n=5) compared to those of the control subjects (SAICAr, 0-0.026μmol/L; SAdo, 0.06-0.14μmol/L; n=31), even after DBSs from dADSL patients were stored for 2-23years. CONCLUSIONS:We developed and validated a method of succinylpurine analysis in DBS that improves selective screening for dADSL in the paediatric population and may be used for retrospective diagnosis to aid the genetic counselling of affected families.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Zikanova M,Krijt J,Skopova V,Krijt M,Baresova V,Kmoch Sdoi
10.1016/j.clinbiochem.2014.10.004subject
Has Abstractpub_date
2015-01-01 00:00:00pages
2-7issue
1-2eissn
0009-9120issn
1873-2933pii
S0009-9120(14)00731-0journal_volume
48pub_type
杂志文章abstract:BACKGROUND:Red blood cell distribution width (RDW) is a predictor of mortality in critically ill patients. Our objective was to investigate the association between the RDW at ICU discharge and the risk of ICU readmission or unexpected death in the ward. METHODS:A secondary analysis of prospectively collected data stud...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2018.03.010
更新日期:2018-05-01 00:00:00
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journal_title:Clinical biochemistry
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doi:10.1016/j.clinbiochem.2010.01.014
更新日期:2010-05-01 00:00:00
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journal_title:Clinical biochemistry
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doi:10.1016/j.clinbiochem.2009.12.017
更新日期:2010-04-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2010.03.017
更新日期:2010-07-01 00:00:00
abstract:OBJECTIVES:To develop a tandem mass spectrometry (MS/MS) method for plasma free and total carnitine, incorporating acid hydrolysis for total carnitine measurement, for improved accuracy and sample throughput. DESIGN AND METHODS:Limit of detection (LOD), limit of quantitation (LOQ), linearity, accuracy, precision coeff...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2010.08.015
更新日期:2010-11-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2013.06.028
更新日期:2013-10-01 00:00:00
abstract::Liquid chromatography (LC) coupled to mass spectrometry (MS) or tandem mass spectrometry (MS/MS) is a well-established and widely used technique in clinical and forensic toxicology as well as doping control especially for quantitative analysis. In recent years, many applications for so-called multi-target screening an...
journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2016.07.010
更新日期:2016-09-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2011.12.024
更新日期:2012-03-01 00:00:00
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journal_title:Clinical biochemistry
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doi:10.1016/0009-9120(94)00068-7
更新日期:1995-02-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.07.011
更新日期:2009-11-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/s0009-9120(02)00385-5
更新日期:2002-11-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章,多中心研究
doi:10.1016/j.clinbiochem.2011.11.001
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:Currently, 20 IU/L is the accepted sensitivity of over-the-counter (OTC) hCG pregnancy tests, and the only sensitivity permitted for point of care (POC) tests. These sensitivity limitations cause significant numbers of false-negative tests, which mislead women and cause them to avoid precautions needed to av...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2008.09.107
更新日期:2009-02-01 00:00:00
abstract::A spectrophotometric study was carried out for three proteins assays when modification of their serum procedures using bromcresol green, bromcresol purple and biuret reagents were applied to the determinations of total proteins and albumin in cerebrospinal fluids. A novel concentration device wherein the sample itself...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(81)90165-x
更新日期:1981-02-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2007.09.008
更新日期:2007-12-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2008.04.008
更新日期:2008-07-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.clinbiochem.2016.04.006
更新日期:2016-07-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.clinbiochem.2010.04.056
更新日期:2010-07-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2006.05.003
更新日期:2006-08-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.05.019
更新日期:2009-09-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2016.02.003
更新日期:2016-09-01 00:00:00
abstract:OBJECTIVE:Immunosuppressive therapy after liver transplantation may be a risk for kidney dysfunction. This work was designed to determine whether Tamm-Horsfall Protein (THP) could be considered as a marker for nephrotoxicity. DESIGN AND METHODS:THP was determined by an ELISA method in serial 24-h urine from liver tran...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(02)00274-6
更新日期:2002-02-01 00:00:00
abstract::An immunosuppressive substance was isolated from ascitic fluids of patients with advanced colon cancer by means of ammonium sulphate precipitation and preparative isoelectric focusing. This was a glycoprotein with an isoelectric point of pH 2.7-3.3, a molecular weight of about 52,000, and a sedimentation coefficient o...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(87)80118-2
更新日期:1987-06-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章,评审
doi:10.1016/0009-9120(91)80014-t
更新日期:1991-06-01 00:00:00
abstract:OBJECTIVES:Bisphenol A (BPA) exposure may promote obesity, but its effect on bone mineral density (BMD) has not been reported in humans. We aimed to examine the relationships between BPA exposure, body composition, serum estradiol, leptin, osteocalcin levels and BMDs in healthy premenopausal women. DESIGN AND METHODS:...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2012.08.024
更新日期:2012-12-01 00:00:00
abstract:AIM:Luciferase immunoprecipitation (LIPS) assays show good sensitivity and specificity in testing islet specific autoantibodies for diagnosis of type 1 diabetes (T1D). However, there are currently no LIPS assays available for detecting proinsulin/insulin autoantibody (IAA) previously. We here developed a LIPS assay to ...
journal_title:Clinical biochemistry
pub_type: 临床试验,杂志文章
doi:10.1016/j.clinbiochem.2018.02.011
更新日期:2018-04-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.04.012
更新日期:2011-07-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 临床试验,杂志文章
doi:10.1016/s0009-9120(97)00005-2
更新日期:1997-06-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2007.03.005
更新日期:2007-06-01 00:00:00
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journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.02.007
更新日期:2009-06-01 00:00:00