메뉴 건너뛰기




Volumn 44, Issue 2, 1998, Pages 317-326

Multivariate discrimination for phenylketonuria (PKU) and non-PKU hyperphenylalaninemia after analysis of newborns' dried blood-spot specimens for six amino acids by ion-exchange chromatography

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLOOD ANALYSIS; FLUOROMETRY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERPHENYLALANINEMIA; ION EXCHANGE CHROMATOGRAPHY; MAPLE SYRUP URINE DISEASE; MULTIVARIATE ANALYSIS; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA; QUALITY CONTROL; QUANTITATIVE DIAGNOSIS;

EID: 0031887596     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/44.2.317     Document Type: Article
Times cited : (36)

References (36)
  • 1
    • 0019828857 scopus 로고
    • Hyperphenylalaninaemia of various types among three-quarters of a million neonates tested in a screening programme
    • Walker V, Clayton BE, Ersser RS, Francis DEM, Lilly P, Senkins JWT, et al. Hyperphenylalaninaemia of various types among three-quarters of a million neonates tested in a screening programme. Arch Dis Child 1981;56:759-64.
    • (1981) Arch Dis Child , vol.56 , pp. 759-764
    • Walker, V.1    Clayton, B.E.2    Ersser, R.S.3    Francis, D.E.M.4    Lilly, P.5    Senkins, J.W.T.6
  • 2
    • 0029148202 scopus 로고
    • Transient neonatal hyperphenylalaninaemia is not related to mutations at the phenylalanine hydroxylase gene
    • Zschocke J, Carson DJ. Transient neonatal hyperphenylalaninaemia is not related to mutations at the phenylalanine hydroxylase gene. J Inher Metab Dis 1995;18:369-70.
    • (1995) J Inher Metab Dis , vol.18 , pp. 369-370
    • Zschocke, J.1    Carson, D.J.2
  • 4
    • 0027395318 scopus 로고
    • Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry
    • Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Lindsay F, Hofman LF. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 1993;39:66-71.
    • (1993) Clin Chem , vol.39 , pp. 66-71
    • Chace, D.H.1    Millington, D.S.2    Terada, N.3    Kahler, S.G.4    Roe, C.R.5    Lindsay, F.6    Hofman, L.F.7
  • 5
    • 0025082125 scopus 로고
    • Drug interferences with amino acid analysis
    • Ulrey JR, Nahata MC. Drug interferences with amino acid analysis. J Pharm Tech 1990;6:64-73.
    • (1990) J Pharm Tech , vol.6 , pp. 64-73
    • Ulrey, J.R.1    Nahata, M.C.2
  • 6
    • 0029940590 scopus 로고    scopus 로고
    • Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry
    • Chace DH, Hillman SL, Millington DS, Kahler SG, Adam BW, Levy HL. Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry. Clin Chem 1996;42:349-55.
    • (1996) Clin Chem , vol.42 , pp. 349-355
    • Chace, D.H.1    Hillman, S.L.2    Millington, D.S.3    Kahler, S.G.4    Adam, B.W.5    Levy, H.L.6
  • 7
    • 75449123150 scopus 로고
    • A simple phenylalanine method for detecting phenylketonuria in: Large populations of newborn infants
    • Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in: large populations of newborn infants. Pediatrics 1963;32:338-43.
    • (1963) Pediatrics , vol.32 , pp. 338-343
    • Guthrie, R.1    Susi, A.2
  • 8
    • 0021351048 scopus 로고
    • Dual-channel, continuous-flow system for determination of phenylalanine and galactose: Application to newborn screening
    • Hoffman GL, Laessig RH, Hassemer DJ, Makowski ER. Dual-channel, continuous-flow system for determination of phenylalanine and galactose: application to newborn screening. Clin Chem 1984;30:287-90.
    • (1984) Clin Chem , vol.30 , pp. 287-290
    • Hoffman, G.L.1    Laessig, R.H.2    Hassemer, D.J.3    Makowski, E.R.4
  • 9
    • 0024423690 scopus 로고
    • Fluorometric method for phenylalanine microplate assay adapted for phenylketonuria screening
    • Gerasimova NS, Steklova IV, Tuuminen T. Fluorometric method for phenylalanine microplate assay adapted for phenylketonuria screening. Clin Chem 1989;35:2112-5.
    • (1989) Clin Chem , vol.35 , pp. 2112-2115
    • Gerasimova, N.S.1    Steklova, I.V.2    Tuuminen, T.3
  • 10
    • 0028933522 scopus 로고
    • Phenylketonuria screening using the Quantase phenylalanine kit in combination with a microfilter system and the dye tartrazine
    • Elvers LH, Diependaal GAM, Blonk HJ, Loeber JG. Phenylketonuria screening using the Quantase phenylalanine kit in combination with a microfilter system and the dye tartrazine. Screening 1995; 3:209-23.
    • (1995) Screening , vol.3 , pp. 209-223
    • Elvers, L.H.1    Diependaal, G.A.M.2    Blonk, H.J.3    Loeber, J.G.4
  • 11
    • 0022501338 scopus 로고
    • HPLC assay of phenylalanine and tyrosine in blood spots on filter-paper
    • Roesel AR, Blankenship PR, Hommes F. HPLC assay of phenylalanine and tyrosine in blood spots on filter-paper. Clin Chim Acta 1986;156:91-6.
    • (1986) Clin Chim Acta , vol.156 , pp. 91-96
    • Roesel, A.R.1    Blankenship, P.R.2    Hommes, F.3
  • 12
    • 0023618929 scopus 로고
    • Phenylalanine and tyrosine in serum and eluates from dried blood spots as determined by reversed-phase liquid chromatography
    • Rudy JL, Rutledge JC, Lewis SL. Phenylalanine and tyrosine in serum and eluates from dried blood spots as determined by reversed-phase liquid chromatography. Clin Chem 1987;33: 1152-4.
    • (1987) Clin Chem , vol.33 , pp. 1152-1154
    • Rudy, J.L.1    Rutledge, J.C.2    Lewis, S.L.3
  • 13
    • 0025034264 scopus 로고
    • Isocratic reverse-phase liquid chromatography assay for amino acid metabolic disorders using eluates of dried blood spots
    • Vollmer DW, Jinks DC, Guthrie R. Isocratic reverse-phase liquid chromatography assay for amino acid metabolic disorders using eluates of dried blood spots. Anal Biochem 1990;189:115-21.
    • (1990) Anal Biochem , vol.189 , pp. 115-121
    • Vollmer, D.W.1    Jinks, D.C.2    Guthrie, R.3
  • 14
    • 0026335141 scopus 로고
    • Rapid automated quantitation of isoleucine, leucine, tyrosine, and phenylalanine from dried blood filter paper specimens
    • Qu Y, Miller JB, Slocum RH, Shapira E. Rapid automated quantitation of isoleucine, leucine, tyrosine, and phenylalanine from dried blood filter paper specimens. Clin Chim Acta 1991;203: 191-8.
    • (1991) Clin Chim Acta , vol.203 , pp. 191-198
    • Qu, Y.1    Miller, J.B.2    Slocum, R.H.3    Shapira, E.4
  • 15
    • 0029121111 scopus 로고
    • Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry
    • Rashed MS, Ozand PT, Bucknall MP, Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 1995;38:324-31.
    • (1995) Pediatr Res , vol.38 , pp. 324-331
    • Rashed, M.S.1    Ozand, P.T.2    Bucknall, M.P.3    Little, D.4
  • 17
    • 84948746712 scopus 로고
    • Flexible discriminant analysis by optimal scoring
    • Hastie T, Tibshirani R, Buja A. Flexible discriminant analysis by optimal scoring. J Am Stat Assoc 1994;89:1255-70.
    • (1994) J Am Stat Assoc , vol.89 , pp. 1255-1270
    • Hastie, T.1    Tibshirani, R.2    Buja, A.3
  • 19
    • 0022219813 scopus 로고
    • Stability of amino acids and galactose in the newborn screening filter paper specimen
    • Levy HL, Simmons JR, MacCready RA. Stability of amino acids and galactose in the newborn screening filter paper specimen. J Pediatr 1985;107:757-60.
    • (1985) J Pediatr , vol.107 , pp. 757-760
    • Levy, H.L.1    Simmons, J.R.2    MacCready, R.A.3
  • 20
    • 0025039145 scopus 로고
    • Amino acid profiles by HPLC after filter paper sampling: 'appropriate technology' for monitoring of nutritional status
    • Lundsjö A, Hagelberg S, Palmér K, Linblad BS. Amino acid profiles by HPLC after filter paper sampling: 'appropriate technology' for monitoring of nutritional status. Clin Chim Acta 1990;191:201-10.
    • (1990) Clin Chim Acta , vol.191 , pp. 201-210
    • Lundsjö, A.1    Hagelberg, S.2    Palmér, K.3    Linblad, B.S.4
  • 21
    • 0026458425 scopus 로고
    • Determination and assessment of the stability of phenylalanine and tyrosine in blood spots by HPLC
    • Madira WM, Xavier F, Stern J, Wilcox A, Barron JL. Determination and assessment of the stability of phenylalanine and tyrosine in blood spots by HPLC [Letter]. Clin Chem 1992;38:2162-3.
    • (1992) Clin Chem , vol.38 , pp. 2162-2163
    • Madira, W.M.1    Xavier, F.2    Stern, J.3    Wilcox, A.4    Barron, J.L.5
  • 22
    • 0023751831 scopus 로고
    • A source of error in phenylketonuria screening
    • Mabry CH, Reid MC, Kuhn RJ. A source of error in phenylketonuria screening. Am J Clin Pathol 1988;90:279-83.
    • (1988) Am J Clin Pathol , vol.90 , pp. 279-283
    • Mabry, C.H.1    Reid, M.C.2    Kuhn, R.J.3
  • 23
    • 84920298830 scopus 로고
    • Drug interference in amino acid analysis: A graphic presentation of pediatric antibiotics
    • Hubbard R, Slocum R. Drug interference in amino acid analysis: a graphic presentation of pediatric antibiotics [Abstract]. Clin Chem 1994;40:1093.
    • (1994) Clin Chem , vol.40 , pp. 1093
    • Hubbard, R.1    Slocum, R.2
  • 24
    • 0002924402 scopus 로고
    • A review of bootstrap confidence intervals
    • DiCiccio TJ, Romano JP. A review of bootstrap confidence intervals. J R Stat Soc Ser B 1988;50:338-54.
    • (1988) J R Stat Soc Ser B , vol.50 , pp. 338-354
    • DiCiccio, T.J.1    Romano, J.P.2
  • 27
    • 14444275134 scopus 로고
    • Further progress in the automation of tandem mass spectrometry used to analyze amino acids and acylcarnitines from neonatal blood spots
    • Glass M, ed. Seattle, WA: Washington State Public Labs.
    • Chace DH, Millington DS, Hillman SL. Further progress in the automation of tandem mass spectrometry used to analyze amino acids and acylcarnitines from neonatal blood spots. In: Glass M, ed. Proceedings of 10th neonatal screening symposium. Seattle, WA: Washington State Public Labs., 1994:24-7.
    • (1994) Proceedings of 10th Neonatal Screening Symposium , pp. 24-27
    • Chace, D.H.1    Millington, D.S.2    Hillman, S.L.3
  • 29
    • 0029786186 scopus 로고    scopus 로고
    • Untreated non-phenylketonuric hyperphenylalaninemia: Intellectual and neurological outcome
    • Weglage J, Ullrich K, Pietsch M, Fünders B, Zass R, Koch HG. Untreated non-phenylketonuric hyperphenylalaninemia: intellectual and neurological outcome. Eur J Pediatr 1996;155(Suppl 1):S26-8.
    • (1996) Eur J Pediatr , vol.155 , Issue.1 SUPPL.
    • Weglage, J.1    Ullrich, K.2    Pietsch, M.3    Fünders, B.4    Zass, R.5    Koch, H.G.6
  • 31
    • 0029846929 scopus 로고    scopus 로고
    • Newborn screening fact sheets
    • Committee on Genetics, American Academy of Pediatrics. Newborn screening fact sheets. Pediatrics 1996;98:473-501.
    • (1996) Pediatrics , vol.98 , pp. 473-501
  • 32
    • 0029053947 scopus 로고
    • Delayed increase in blood phenylalanine concentration in phenylketonuric children initially classified as mild hyperphenylalaninemia
    • Berlin CM, Levy HL, Hanley WB. Delayed increase in blood phenylalanine concentration in phenylketonuric children initially classified as mild hyperphenylalaninemia. Screening 1995;4: 35-9.
    • (1995) Screening , vol.4 , pp. 35-39
    • Berlin, C.M.1    Levy, H.L.2    Hanley, W.B.3
  • 35
    • 0029786371 scopus 로고    scopus 로고
    • Outcome implications of the International Maternal Phenylketonuria Collaborative Study (MPKUCS): 1994
    • Koch R, Levy H, Hanley W, Matalon R, Rouse B, Trefz F, de la Cruz F. Outcome implications of the International Maternal Phenylketonuria Collaborative Study (MPKUCS): 1994. Eur J Pediatr 1996; 155(Suppl 1):S162-4.
    • (1996) Eur J Pediatr , vol.155 , Issue.1 SUPPL.
    • Koch, R.1    Levy, H.2    Hanley, W.3    Matalon, R.4    Rouse, B.5    Trefz, F.6    De La Cruz, F.7
  • 36
    • 14444282950 scopus 로고    scopus 로고
    • Reproductive outcome of pregnant women with hyperphenylalaninemia
    • Ross Products Div., Abbott Labs., 625 Cleveland Ave., Columbus, OH 43215
    • Koch R, Friedman EG, Azen C. Reproductive outcome of pregnant women with hyperphenylalaninemia. Metabol Currents 1996;8: 1-4. (Ross Products Div., Abbott Labs., 625 Cleveland Ave., Columbus, OH 43215).
    • (1996) Metabol Currents , vol.8 , pp. 1-4
    • Koch, R.1    Friedman, E.G.2    Azen, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.