메뉴 건너뛰기




Volumn 44, Issue 2, 2011, Pages 319-325

Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data

Author keywords

Data mining; Logistic regression; MCADD; Medium Chain Acyl CoA dehydrogenase; Rare diseases

Indexed keywords

BELGIUM; BLOOD SAMPLES; CLASSIFICATION ACCURACY; CROSS VALIDATION; DATA MINING METHODS; DATA SETS; EARLY DETECTION; FATTY ACID OXIDATION; GRID SEARCH; INTERPRETABILITY; LOGISTIC REGRESSION; LOGISTIC REGRESSIONS; MACHINE LEARNING METHODS; MCADD; MEDIUM-CHAIN ACYL-COA DEHYDROGENASE; METABOLIC DISEASE; METABOLIC DISORDERS; MODEL PARAMETERS; NEWBORN SCREENING; POSITIVE PREDICTIVE VALUES; POTENTIAL VALUES; RARE DISEASE; SCREENING DATA; SCREENING METHODS; SUPPORT TOOL; TANDEM MASS SPECTROMETRY; TANDEM MS; TEST SETS; THRESHOLD OPTIMIZATION; VARIABLE SELECTION;

EID: 79952741160     PISSN: 15320464     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jbi.2010.12.001     Document Type: Article
Times cited : (21)

References (21)
  • 1
    • 25644443164 scopus 로고    scopus 로고
    • The European rare diseases therapeutic initiative
    • Fischer A., Borensztein P., Roussel C. The European rare diseases therapeutic initiative. PLoS Med 2005, 2(9).
    • (2005) PLoS Med , vol.2 , Issue.9
    • Fischer, A.1    Borensztein, P.2    Roussel, C.3
  • 2
    • 49149109956 scopus 로고    scopus 로고
    • Mitochondrial fatty-acid oxidation disorders
    • Kompare M., Rizzo W. Mitochondrial fatty-acid oxidation disorders. Semin Pediatr Neurol 2008, 15(3):140-149.
    • (2008) Semin Pediatr Neurol , vol.15 , Issue.3 , pp. 140-149
    • Kompare, M.1    Rizzo, W.2
  • 3
    • 77957587770 scopus 로고    scopus 로고
    • Fatty acid oxidation disorders: outcome and long-term prognosis
    • Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis 2010.
    • (2010) J Inherit Metab Dis
    • Wilcken, B.1
  • 4
    • 0027359236 scopus 로고
    • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood
    • Van Hove J.L., Zhang W., Kahler S.G., Roe C.R., Chen Y.T., Terada N., et al. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. Am J Hum Genet 1993, 52(5):958-966.
    • (1993) Am J Hum Genet , vol.52 , Issue.5 , pp. 958-966
    • Van Hove, J.L.1    Zhang, W.2    Kahler, S.G.3    Roe, C.R.4    Chen, Y.T.5    Terada, N.6
  • 5
    • 0030664016 scopus 로고    scopus 로고
    • Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
    • Chace D., Hillman S., Van Hove J., Naylor E. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem 1997, 43(11):2106-2113.
    • (1997) Clin Chem , vol.43 , Issue.11 , pp. 2106-2113
    • Chace, D.1    Hillman, S.2    Van Hove, J.3    Naylor, E.4
  • 6
    • 0038373881 scopus 로고    scopus 로고
    • Direct tandem mass spectrometric analysis of amino acids in dried blood spots without chemical derivatization for neonatal screening
    • Nagy K., Tákats Z., Pollreisz F., Szabó T., Vékey K. Direct tandem mass spectrometric analysis of amino acids in dried blood spots without chemical derivatization for neonatal screening. Rapid Commun Mass Spectrom 2003, 17(9):983-990.
    • (2003) Rapid Commun Mass Spectrom , vol.17 , Issue.9 , pp. 983-990
    • Nagy, K.1    Tákats, Z.2    Pollreisz, F.3    Szabó, T.4    Vékey, K.5
  • 7
    • 79952775216 scopus 로고    scopus 로고
    • Medium-chain acyl-coenzyme a dehydrogenase deficiency
    • Matern D., Rinaldo P. Medium-chain acyl-coenzyme a dehydrogenase deficiency. PLoS Genet 2005.
    • (2005) PLoS Genet
    • Matern, D.1    Rinaldo, P.2
  • 8
    • 79952772698 scopus 로고    scopus 로고
    • Newborn mass screening using tandem mass spectrometry: results of the validation and comparison of two methods (derivatized/non-derivatized)
    • [3]
    • Eyskens F.J.M., Philips E. Newborn mass screening using tandem mass spectrometry: results of the validation and comparison of two methods (derivatized/non-derivatized). J Inherit Metab Dis 2007, 30(Suppl. 1). [3].
    • (2007) J Inherit Metab Dis , vol.30 , Issue.SUPPL. 1
    • Eyskens, F.J.M.1    Philips, E.2
  • 9
    • 79952760540 scopus 로고    scopus 로고
    • [accessed 05.07.10].
    • [accessed 05.07.10]. http://www.las.perkinelmer.com/content/RelatedMaterials/Posters/SPS_MSMSComparison.pdf.
  • 10
    • 0242362630 scopus 로고    scopus 로고
    • Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns
    • Chace D., Kalas T., Naylor E. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin Chem 2003, 49(11):1797-1817.
    • (2003) Clin Chem , vol.49 , Issue.11 , pp. 1797-1817
    • Chace, D.1    Kalas, T.2    Naylor, E.3
  • 11
    • 0031903920 scopus 로고    scopus 로고
    • Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry
    • Clayton P., Doig M., Ghafari S., Meaney C., Taylor C., Leonard J., et al. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. Arch Dis Child 1998, 79(2):109-115.
    • (1998) Arch Dis Child , vol.79 , Issue.2 , pp. 109-115
    • Clayton, P.1    Doig, M.2    Ghafari, S.3    Meaney, C.4    Taylor, C.5    Leonard, J.6
  • 12
    • 0035968582 scopus 로고    scopus 로고
    • Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
    • Pourfarzam M., Morris A., Appleton M., Craft A., Bartlett K. Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet 2001, 358(9287):1063-1064.
    • (2001) Lancet , vol.358 , Issue.9287 , pp. 1063-1064
    • Pourfarzam, M.1    Morris, A.2    Appleton, M.3    Craft, A.4    Bartlett, K.5
  • 13
    • 0037057759 scopus 로고    scopus 로고
    • A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency
    • Okun J. A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. Biochim Biophys Acta 2002, 1584(2-3):91-98.
    • (2002) Biochim Biophys Acta , vol.1584 , Issue.2-3 , pp. 91-98
    • Okun, J.1
  • 14
    • 15944363863 scopus 로고    scopus 로고
    • Modelling of classification rules on metabolic patterns including machine learning and expert knowledge
    • Baumgartner C., Böhm C., Baumgartner D. Modelling of classification rules on metabolic patterns including machine learning and expert knowledge. J Biomed Inform 2005, 38(2):89-98.
    • (2005) J Biomed Inform , vol.38 , Issue.2 , pp. 89-98
    • Baumgartner, C.1    Böhm, C.2    Baumgartner, D.3
  • 15
    • 10244245449 scopus 로고    scopus 로고
    • Supervised machine learning techniques for the classification of metabolic disorders in newborns
    • Baumgartner C., Bohm C., Baumgartner D., Marini G., Weinberger K., Olgemoller B., et al. Supervised machine learning techniques for the classification of metabolic disorders in newborns. Bioinformatics 2004, 20(17):2985-2996.
    • (2004) Bioinformatics , vol.20 , Issue.17 , pp. 2985-2996
    • Baumgartner, C.1    Bohm, C.2    Baumgartner, D.3    Marini, G.4    Weinberger, K.5    Olgemoller, B.6
  • 16
    • 34347390089 scopus 로고    scopus 로고
    • Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
    • Ho S., Lukacs Z., Hoffmann G., Lindner M., Wetter T. Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Clin Chem 2007, 53(7):1330-1337.
    • (2007) Clin Chem , vol.53 , Issue.7 , pp. 1330-1337
    • Ho, S.1    Lukacs, Z.2    Hoffmann, G.3    Lindner, M.4    Wetter, T.5
  • 17
    • 79952746842 scopus 로고
    • C45: programs for machine learning. Morgan Kaufmann
    • Quinlan R. C45: programs for machine learning. Morgan Kaufmann; 1993.
    • (1993)
    • Quinlan, R.1
  • 19
    • 0000521473 scopus 로고
    • Ridge estimators in logistic regression
    • Le Cessie S., Van Houwelingen J.C. Ridge estimators in logistic regression. Appl Stat 1992, 41(1):191-201.
    • (1992) Appl Stat , vol.41 , Issue.1 , pp. 191-201
    • Le Cessie, S.1    Van Houwelingen, J.C.2
  • 21
    • 79952748134 scopus 로고    scopus 로고
    • MetaCost: a general method for making classifiers cost-sensitive. KDD. 155-164. San Diego, California, United States: ACM
    • Domingos P. MetaCost: a general method for making classifiers cost-sensitive. KDD. 155-164. San Diego, California, United States: ACM; 1999.
    • (1999)
    • Domingos, P.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.