메뉴 건너뛰기




Volumn 5, Issue , 2012, Pages 1-6

Homocysteine measurement in dried blood spot for neonatal detection of homocystinurias

Author keywords

Acetyl carnitine; cblc defect; Homocysteine remethylation; Mthfr deficiency; thcy concentration

Indexed keywords


EID: 84907366630     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_109     Document Type: Chapter
Times cited : (14)

References (15)
  • 1
    • 11144278244 scopus 로고    scopus 로고
    • Blood spot homocysteine: A feasibility and stability study
    • Bowron A, Barton A, Scott J, Stansbie D (2005) Blood spot homocysteine: a feasibility and stability study. Clin Chem 51:257–258
    • (2005) Clin Chem , vol.51 , pp. 257-258
    • Bowron, A.1    Barton, A.2    Scott, J.3    Stansbie, D.4
  • 2
    • 33947720757 scopus 로고    scopus 로고
    • Hyperhomocysteinemia and cobalamin disorders
    • Digest I (2007) Hyperhomocysteinemia and cobalamin disorders. Mol Genet Metab 90:113–121
    • (2007) Mol Genet Metab , vol.90 , pp. 113-121
    • Digest, I.1
  • 3
    • 0030911174 scopus 로고    scopus 로고
    • Disorders of homocysteine metabolism
    • Fowler B (1997) Disorders of homocysteine metabolism. J Inherit Metab Dis 20:270–285
    • (1997) J Inherit Metab Dis , vol.20 , pp. 270-285
    • Fowler, B.1
  • 4
    • 77049123198 scopus 로고    scopus 로고
    • Newborn population screening for classic homocystinuria by determination of total homocysteine from guthrie cards
    • Gan-Schreier H, Kebbewar M, Fang-Hoffmann J et al (2009) Newborn population screening for classic homocystinuria by determination of total homocysteine from guthrie cards. J Pediatr 156:427–432
    • (2009) J Pediatr , vol.156 , pp. 427-432
    • Gan-Schreier, H.1    Kebbewar, M.2    Fang-Hoffmann, J.3
  • 5
    • 0033953423 scopus 로고    scopus 로고
    • Rapid determination of total homocysteine in blood spots by liquid chromatography-electrospray ionization-tandem mass spectrometry
    • Gempel K, Gerbitz K-D, Casetta B, Bauer MF (2000) Rapid determination of total homocysteine in blood spots by liquid chromatography-electrospray ionization-tandem mass spectrometry. Clin Chem 46:122–123
    • (2000) Clin Chem , vol.46 , pp. 122-123
    • Gempel, K.1    Gerbitz, K.-D.2    Casetta, B.3    Bauer, M.F.4
  • 6
    • 0032823860 scopus 로고    scopus 로고
    • Method for the determination of total homocysteine in plasma and urine by stable isotope dilution and electrospray tandem mass spectrometry
    • Magera MJ, Lacey JM, Casetta B, Rinaldo P (1999) Method for the determination of total homocysteine in plasma and urine by stable isotope dilution and electrospray tandem mass spectrometry. Clin Chem 45:1517–1522
    • (1999) Clin Chem , vol.45 , pp. 1517-1522
    • Magera, M.J.1    Lacey, J.M.2    Casetta, B.3    Rinaldo, P.4
  • 7
    • 34548476003 scopus 로고    scopus 로고
    • Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004–2007)
    • Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P (2007) Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004–2007). J Inherit Metab Dis 30:585–592
    • (2007) J Inherit Metab Dis , vol.30 , pp. 585-592
    • Matern, D.1    Tortorelli, S.2    Oglesbee, D.3    Gavrilov, D.4    Rinaldo, P.5
  • 8
    • 0037348289 scopus 로고    scopus 로고
    • Measurement of total homocysteine in plasma and blood spots using liquid chromatography-tandem mass spectrometry: Comparison with the plasma Abbott IMx method
    • McCann SJ, Gillingwater S, Keevil BG, Cooper DP, Morris MR (2003) Measurement of total homocysteine in plasma and blood spots using liquid chromatography-tandem mass spectrometry: comparison with the plasma Abbott IMx method. Ann Clin Biochem 40:161–165
    • (2003) Ann Clin Biochem , vol.40 , pp. 161-165
    • McCann, S.J.1    Gillingwater, S.2    Keevil, B.G.3    Cooper, D.P.4    Morris, M.R.5
  • 11
    • 77955288342 scopus 로고    scopus 로고
    • Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry
    • Tortorelli S, Turgeon CT, Lim JS et al (2010) Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. J Pediatr 157:271–275
    • (2010) J Pediatr , vol.157 , pp. 271-275
    • Tortorelli, S.1    Turgeon, C.T.2    Lim, J.S.3
  • 12
    • 78149490509 scopus 로고    scopus 로고
    • Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry
    • Turgeon CT, Magera MJ, Cuthbert CD et al (2010) Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem 56:1686–1695
    • (2010) Clin Chem , vol.56 , pp. 1686-1695
    • Turgeon, C.T.1    Magera, M.J.2    Cuthbert, C.D.3
  • 13
    • 33745146118 scopus 로고    scopus 로고
    • Acquired and inherited disorders of cobalamin and folate in children
    • Whitehead VM (2006) Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol 134:125–136
    • (2006) Br J Haematol , vol.134 , pp. 125-136
    • Whitehead, V.M.1
  • 14
    • 0037685217 scopus 로고    scopus 로고
    • Screening newborns for inborn errors of metabolism by tandem mass spectrometry
    • Wilcken B, Wiley V, Hammond J, Carpenter K (2003) Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348:2304–2312
    • (2003) N Engl J Med , vol.348 , pp. 2304-2312
    • Wilcken, B.1    Wiley, V.2    Hammond, J.3    Carpenter, K.4
  • 15
    • 0031781126 scopus 로고    scopus 로고
    • Homocystinuria due to cystathionine β-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control
    • Yap S, Naughten E (1998) Homocystinuria due to cystathionine β-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. J Inherit Metab Dis 21:738–747
    • (1998) J Inherit Metab Dis , vol.21 , pp. 738-747
    • Yap, S.1    Naughten, E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.