메뉴 건너뛰기




Volumn 101, Issue 1, 2010, Pages 25-32

Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis

Author keywords

2 Methylbutyryl CoA dehydrogenase deficiency; Isobutyryl CoA dehydrogenase deficiency; Isovaleric acidemia; Pivaloylcarnitine; Short chain acyl CoA dehydrogenase deficiency; Short chain acylcarnitines; Ultra performance liquid chromatography mass spectrometry

Indexed keywords

2 METHYLBUTYRYLCARNITINE; ACYLCARNITINE; BUTYRYLCARNITINE; DEUTERIUM; ISOBUTYRYLCARNITINE; ISOVALERYLCARNITINE; PIVALOYLCARNITINE; UNCLASSIFIED DRUG; VALERYLCARNITINE;

EID: 77955657635     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.05.012     Document Type: Article
Times cited : (33)

References (16)
  • 2
    • 0029121111 scopus 로고
    • Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and aminoacids profiling using automated elecrospray tandem mass spectrometry
    • Rashed M.S., Ozand P.T., Bucknall M.P., Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and aminoacids profiling using automated elecrospray tandem mass spectrometry. Pediatr. Res. 1995, 38:324-331.
    • (1995) Pediatr. Res. , vol.38 , pp. 324-331
    • Rashed, M.S.1    Ozand, P.T.2    Bucknall, M.P.3    Little, D.4
  • 3
    • 0036405455 scopus 로고    scopus 로고
    • The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism
    • Chace D.H., Kalas T.A., Naylor E.W. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu. Rev. Genomics Hum. Genet. 2002, 3:17-45.
    • (2002) Annu. Rev. Genomics Hum. Genet. , vol.3 , pp. 17-45
    • Chace, D.H.1    Kalas, T.A.2    Naylor, E.W.3
  • 4
    • 36348934149 scopus 로고    scopus 로고
    • Separation and identification of plasma short-chain acylcarnitine isomers by HPLC-MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias
    • Ferrer I., Ruiz-Sala P., Vicente Y., Merinero B., Perez-Cerda C., Ugarte M. Separation and identification of plasma short-chain acylcarnitine isomers by HPLC-MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias. J. Chromatogr. B 2007, 860:121-126.
    • (2007) J. Chromatogr. B , vol.860 , pp. 121-126
    • Ferrer, I.1    Ruiz-Sala, P.2    Vicente, Y.3    Merinero, B.4    Perez-Cerda, C.5    Ugarte, M.6
  • 5
    • 33847391557 scopus 로고    scopus 로고
    • Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high performance liquid chromatography/electrospray ionization tandem mass spectrometry
    • Maeda Y., Ito T., Suzuki A., Kurono Y., Ueta A., Yokoi K., et al. Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high performance liquid chromatography/electrospray ionization tandem mass spectrometry. Rapid Commun. Mass Spectrom. 2007, 21(5):799-806.
    • (2007) Rapid Commun. Mass Spectrom. , vol.21 , Issue.5 , pp. 799-806
    • Maeda, Y.1    Ito, T.2    Suzuki, A.3    Kurono, Y.4    Ueta, A.5    Yokoi, K.6
  • 6
    • 0031752221 scopus 로고    scopus 로고
    • Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening program
    • Abendur J.E., Chamoles N.A., Guinle A.E., Schenone A.B., Fuertes A.N.J. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening program. J. Inherit. Metab. Dis. 1998, 21:624-630.
    • (1998) J. Inherit. Metab. Dis. , vol.21 , pp. 624-630
    • Abendur, J.E.1    Chamoles, N.A.2    Guinle, A.E.3    Schenone, A.B.4    Fuertes, A.N.J.5
  • 7
    • 32944481866 scopus 로고    scopus 로고
    • Falsely elevated C4-carnitine as expression of Glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening [Letter]
    • Malvagia S., La Marca G., Casetta B., Gasperini S., Pasquini E., Donati M.A., Zammarchi E. Falsely elevated C4-carnitine as expression of Glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening [Letter]. J. Mass Spectrom. 2006, 41:263-265.
    • (2006) J. Mass Spectrom. , vol.41 , pp. 263-265
    • Malvagia, S.1    La Marca, G.2    Casetta, B.3    Gasperini, S.4    Pasquini, E.5    Donati, M.A.6    Zammarchi, E.7
  • 8
    • 51649085510 scopus 로고    scopus 로고
    • Short-Chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening of clinical symptoms
    • Waisbren S.E., Levy H.L., Noble M., Matern D., Gregersen N., Pasley K., Marsden D., et al. Short-Chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening of clinical symptoms. Mol. Genet. Metab. 2008, 95(1-2):39-45.
    • (2008) Mol. Genet. Metab. , vol.95 , Issue.1-2 , pp. 39-45
    • Waisbren, S.E.1    Levy, H.L.2    Noble, M.3    Matern, D.4    Gregersen, N.5    Pasley, K.6    Marsden, D.7
  • 9
    • 0037389601 scopus 로고    scopus 로고
    • The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots
    • Nagan N., Kruckeberg K.E., Tauscher A.L., Bailey K.S., Rinaldo P. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots. MGM 2003, 78:239-246.
    • (2003) MGM , vol.78 , pp. 239-246
    • Nagan, N.1    Kruckeberg, K.E.2    Tauscher, A.L.3    Bailey, K.S.4    Rinaldo, P.5
  • 10
    • 33847081531 scopus 로고    scopus 로고
    • Development of a newborn screening follow up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency
    • Oglesbee D., et al. Development of a newborn screening follow up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet. Med. 2007, 9(2):108-116.
    • (2007) Genet. Med. , vol.9 , Issue.2 , pp. 108-116
    • Oglesbee, D.1
  • 11
    • 0038757594 scopus 로고    scopus 로고
    • Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the human population by newborn screening using tandem mass spectrometry
    • Matern D., He M., Berry S.A., Rinaldo P., Whitley C.B., Madsen P.P., et al. Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the human population by newborn screening using tandem mass spectrometry. Pediatrics 2003, 112:74-78.
    • (2003) Pediatrics , vol.112 , pp. 74-78
    • Matern, D.1    He, M.2    Berry, S.A.3    Rinaldo, P.4    Whitley, C.B.5    Madsen, P.P.6
  • 12
  • 13
    • 37049001052 scopus 로고    scopus 로고
    • 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism
    • Sass J.O., Ensenauer R., Röschinger W., Reich H., Steuerwald U., Schirrmacher O., et al. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. MGM 2008, 93:30-35.
    • (2008) MGM , vol.93 , pp. 30-35
    • Sass, J.O.1    Ensenauer, R.2    Röschinger, W.3    Reich, H.4    Steuerwald, U.5    Schirrmacher, O.6
  • 14
    • 33646533134 scopus 로고    scopus 로고
    • Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity
    • Vockley J., Esenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am. J. Med. Genet. 2006, 142C:95-103.
    • (2006) Am. J. Med. Genet. , vol.142 , Issue.C , pp. 95-103
    • Vockley, J.1    Esenauer, R.2
  • 15
    • 0036890172 scopus 로고    scopus 로고
    • Pivalate-generating prodrugs and carnitine homeostasis in man
    • Brass E.P. Pivalate-generating prodrugs and carnitine homeostasis in man. Pharmacol. Rev. 2002, 54:589-598.
    • (2002) Pharmacol. Rev. , vol.54 , pp. 589-598
    • Brass, E.P.1
  • 16
    • 34548697737 scopus 로고    scopus 로고
    • Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia
    • Shigematsu Y., Hata I., Tanaka Y. Stable-isotope dilution measurement of isovalerylglycine by tandem mass spectrometry in newborn screening for isovaleric acidemia. Clin. Chim. Acta 2007, 386:82-86.
    • (2007) Clin. Chim. Acta , vol.386 , pp. 82-86
    • Shigematsu, Y.1    Hata, I.2    Tanaka, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.