Rapid measurement of plasma acylcarnitines by liquid chromatography–tandem mass spectrometry without derivatization

Clinica Chimica Acta - Tập 358 Số 1-2 - Trang 104-112 - 2005
Amiya K. Ghoshal1, Tiedong Guo2, Nadia Soukhova2, Steven J. Soldin2,1,3
1Department of Laboratory Medicine, Children’s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010-2970, USA
2Bioanalytical Core Laboratory, Departments of Pharmacology and Medicine, Georgetown University and Georgetown Clinical Research Center, Washington, DC, USA
3Departments of Pediatrics and Pathology, The George Washington University School of Medicine, Washington, DC, USA

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Olpin, 2004, Implications of impaired ketogenesis in fatty acid oxidation disorders, Prostaglandins Leukot Essent Fat Acids, 70, 293, 10.1016/j.plefa.2003.06.003

Sim, 2002, Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders, Clin Chim Acta, 323, 37, 10.1016/S0009-8981(02)00182-1

Rinaldo, 2002, Fatty acid oxidation disorders, Annu Rev Physiol, 64, 477, 10.1146/annurev.physiol.64.082201.154705

Chace, 2001, Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns, Clin Chem, 47, 2040, 10.1093/clinchem/47.11.2040

Abdenur, 1998, Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivalocarnitine in a newborn screening programme, J Inherit Metab Dis, 21, 624, 10.1023/A:1005424331822

Santer, 2003, Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal Screening of Malonyl-CoA Decarboxylase Deficiency, Clin Chem, 49, 660, 10.1373/49.4.660

Gibson, 2000, 2-Methylbutyryl-coenzyme a dehydrogenase deficiency: a new inborn error of l-isoleucine metabolism, Pediatr Res, 47, 830, 10.1203/00006450-200006000-00025

Chace, 1997, Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry, Clin Chem, 43, 2106, 10.1093/clinchem/43.11.2106

Chace, 2001, Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death, Clin Chem, 47, 1166, 10.1093/clinchem/47.7.1166

Chace, 2003, Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns, Clin Chem, 49, 1797, 10.1373/clinchem.2003.022178

Wilcken, 2003, Screening newborns for inborn errors of metabolism by tandem mass spectrometry, N Engl J Med, 348, 2304, 10.1056/NEJMoa025225

Vernez, 2003, Determination of carnitine and acylcarnitines in urine by high-performance liquid chromatography–electrospray ionization ion trap tandem mass spectrometry, J Chromatogr A, 984, 203, 10.1016/S0021-9673(02)01838-1

Pitt, 2002, Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry, Clin Chem, 48, 1970, 10.1093/clinchem/48.11.1970

Mueller, 2003, Validation of an ESI-MS/MS screening method for acylcarnitine profiling in urine specimens of neonates, children, adolescents and adults, Clin Chim Acta, 327, 47, 10.1016/S0009-8981(02)00327-3

Vernez, 2004, Determination of carnitine and acylcarnitines in plasma by high performance liquid chromatography/electrospray ionization ion tandem mass spectrometry, Rapid Commun Mass Spectrom, 18, 1233, 10.1002/rcm.1470

Vreken, 1999, Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma, Adv Exp Med Biol, 466, 327, 10.1007/0-306-46818-2_38

Guo, 2004, Steroid profiles using liquid chromatography–tandem mass spectrometry with atmospheric pressure photoionization source, Arch Pathol Lab Med, 128, 469, 10.5858/2004-128-469-SPULCM

Volosov, 2001, Simultaneous simple and fast quantification of three major immunosuppressants by liquid chromatography–tandem mass spectrometry, Clin Biochem, 34, 289, 10.1016/S0009-9120(01)00235-1

Volosov, 2002, Simple rapid method for quantification of antiretrovirals by liquid chromatography–tandem mass spectrometry, Clin Biochem, 35, 99, 10.1016/S0009-9120(02)00286-2

Wood, 2001, Diagnosis of very long chain acyl CoA-dehydrogenase deficiency from infant's newborn screening card, Pediatrics, 108, E19, 10.1542/peds.108.1.e19

American College of Genetics/American Society of Human Genetics Test and Technology Transfer Committee, 2000, Tandem mass spectrometry in newborn screening, Genet Med, 2, 267, 10.1097/00125817-200007000-00011