메뉴 건너뛰기




Volumn 162, Issue 1, 2003, Pages

Advances in analytical mass spectrometry to improve screening for inherited metabolic diseases

Author keywords

High risk screening; Inherited metabolic disease; Mass spectrometry; Newborn screening

Indexed keywords

ALPHA 1 ANTITRYPSIN; AMINO ACID; BILE ACID; CARNITINE; CHOLESTEROL; FATTY ACID; GUANIDINOACETIC ACID; ISOENZYME; ISOPROTEIN; METHIONINE; METHYLTRANSFERASE; PEPTIDE; PLASMALOGEN; PURINE; PYRIMIDINE; STEROID;

EID: 0346059333     PISSN: 09439676     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (41)

References (74)
  • 1
    • 0035133830 scopus 로고    scopus 로고
    • Neonatal screening for haemoglobinopathies: The results of a 10-year programme in an English Health Region
    • Almeida AM, Henthorn JS, Davies SC (2001) Neonatal screening for haemoglobinopathies: the results of a 10-year programme in an English Health Region. Br J Haematol 112: 32-35
    • (2001) Br J Haematol , vol.112 , pp. 32-35
    • Almeida, A.M.1    Henthorn, J.S.2    Davies, S.C.3
  • 2
    • 0037175422 scopus 로고    scopus 로고
    • Quantitation of tryptophan, kynurenine and kynurenic acid in human plasma by capillary liquid chromatography-electrospray ionization tandem mass spectrometry
    • Amirkhani A, Heldin E, Markides KE, Bergquist J (2002) Quantitation of tryptophan, kynurenine and kynurenic acid in human plasma by capillary liquid chromatography-electrospray ionization tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 780: 381-387
    • (2002) J Chromatogr B Analyt Technol Biomed Life Sci , vol.780 , pp. 381-387
    • Amirkhani, A.1    Heldin, E.2    Markides, K.E.3    Bergquist, J.4
  • 3
    • 0034971857 scopus 로고    scopus 로고
    • Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry
    • Bodamer OA, Bloesch SM, Gregg AR, Stöckler-Ipsiroglu S, O'Brien WE (2001) Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin Chim Acta 308: 173-178
    • (2001) Clin Chim Acta , vol.308 , pp. 173-178
    • Bodamer, O.A.1    Bloesch, S.M.2    Gregg, A.R.3    Stöckler-Ipsiroglu, S.4    O'Brien, W.E.5
  • 4
    • 0036288945 scopus 로고    scopus 로고
    • Application of tandem mass spectrometry to biochemical genetics and newborn screening
    • Carpenter KH, Wiley V (2002) Application of tandem mass spectrometry to biochemical genetics and newborn screening. Clin Chim Acta 322: 1-10
    • (2002) Clin Chim Acta , vol.322 , pp. 1-10
    • Carpenter, K.H.1    Wiley, V.2
  • 5
    • 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, Hofman LF (1993) Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 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    Hofman, L.F.6
  • 6
    • 0033430257 scopus 로고    scopus 로고
    • Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: A model for clinical mass spectrometry in the next millennium
    • Chace DH, DiPerna JC, Naylor EW (1999) Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium. Acta Paediatr Suppl 88: 45-47
    • (1999) Acta Paediatr Suppl , vol.88 , pp. 45-47
    • Chace, D.H.1    DiPerna, J.C.2    Naylor, E.W.3
  • 7
    • 0034956576 scopus 로고    scopus 로고
    • Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death
    • Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW (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: 1166-1182
    • (2001) Clin Chem , vol.47 , pp. 1166-1182
    • Chace, D.H.1    DiPerna, J.C.2    Mitchell, B.L.3    Sgroi, B.4    Hofman, L.F.5    Naylor, E.W.6
  • 8
    • 0036255571 scopus 로고    scopus 로고
    • Mass spectrometry: An emerging alternative to traditional methods for measurement of diagnostic proteins, peptides and amino acids
    • Dalluge JJ (2002) Mass spectrometry: an emerging alternative to traditional methods for measurement of diagnostic proteins, peptides and amino acids. Curr Protein Pept Sci 3: 181-190
    • (2002) Curr Protein Pept Sci , vol.3 , pp. 181-190
    • Dalluge, J.J.1
  • 10
    • 0035937542 scopus 로고    scopus 로고
    • Glycoprotein structure determina-tion by mass spectrometry
    • Dell A, Morris HR (2001) Glycoprotein structure determina-tion by mass spectrometry. Science 291: 2351-2356
    • (2001) Science , vol.291 , pp. 2351-2356
    • Dell, A.1    Morris, H.R.2
  • 11
    • 0035130658 scopus 로고    scopus 로고
    • Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency
    • Ferdinandusse S, Overmars H, Denis S, Waterham HR, Wanders RJ, Vreken P (2001) Plasma analysis of di-and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency. J Lipid Res 42: 137-141
    • (2001) J Lipid Res , vol.42 , pp. 137-141
    • Ferdinandusse, S.1    Overmars, H.2    Denis, S.3    Waterham, H.R.4    Wanders, R.J.5    Vreken, P.6
  • 13
    • 0034866653 scopus 로고    scopus 로고
    • Quantitative measurement of porphobilinogen in urine by stable-isotope dilution liquid chromatography-tandem mass spectrometry
    • Ford RE, Magera MJ, Kloke KM, Chezick PA, Fauq A, McConnell JP (2001) Quantitative measurement of porphobilinogen in urine by stable-isotope dilution liquid chromatography-tandem mass spectrometry. Clin Chem 47: 1627-1632
    • (2001) Clin Chem , vol.47 , pp. 1627-1632
    • Ford, R.E.1    Magera, M.J.2    Kloke, K.M.3    Chezick, P.A.4    Fauq, A.5    McConnell, J.P.6
  • 14
    • 0033953423 scopus 로고    scopus 로고
    • Rapid determination of total homocysteine in blood spots by liquid chromatography-electrospray ionization-tandem mass spectrometry
    • Gempel K, Gerbitz KD, 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
  • 15
    • 0035870166 scopus 로고    scopus 로고
    • Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry: Application to clinical enzymology
    • Gerber SA, Scott CR, Turecek F, Gelb MH (2001) Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry: application to clinical enzymology. Anal Chem 73: 1651-1657
    • (2001) Anal Chem , vol.73 , pp. 1651-1657
    • Gerber, S.A.1    Scott, C.R.2    Turecek, F.3    Gelb, M.H.4
  • 17
    • 0036840817 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation: A review
    • Grünewald S, Matthijs G, Jaeken J (2002) Congenital disorders of glycosylation: a review. Pediatr Res 52: 618-624
    • (2002) Pediatr Res , vol.52 , pp. 618-624
    • Grünewald, S.1    Matthijs, G.2    Jaeken, J.3
  • 20
    • 0034075405 scopus 로고    scopus 로고
    • Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips
    • Ito T, van Kuilenburg AB, Bootsma AH, Haasnoot AJ, van Cruchten A, Wada Y, van Gennip AH (2000) Rapid screening of high-risk patients for disorders of purine and pyrimidine metabolism using HPLC-electrospray tandem mass spectrometry of liquid urine or urine-soaked filter paper strips. Clin Chem 46: 445-452
    • (2000) Clin Chem , vol.46 , pp. 445-452
    • Ito, T.1    Van Kuilenburg, A.B.2    Bootsma, A.H.3    Haasnoot, A.J.4    Van Cruchten, A.5    Wada, Y.6    Van Gennip, A.H.7
  • 21
    • 0034916388 scopus 로고    scopus 로고
    • Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: A retrospective study
    • Jensen UG, Brandt NJ, Christensen E, Skovby F, NorgaardPedersen B, Simonsen H (2001) Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study. Clin Chem 47: 1364-1372
    • (2001) Clin Chem , vol.47 , pp. 1364-1372
    • Jensen, U.G.1    Brandt, N.J.2    Christensen, E.3    Skovby, F.4    NorgaardPedersen, B.5    Simonsen, H.6
  • 22
    • 0033931249 scopus 로고    scopus 로고
    • A rapid screening procedure for the diagnosis of peroxisomal disorders: Quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry
    • Johnson DW (2000) A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry. J Inherit Metab Dis 23: 475-486
    • (2000) J Inherit Metab Dis , vol.23 , pp. 475-486
    • Johnson, D.W.1
  • 23
    • 0035130720 scopus 로고    scopus 로고
    • Rapid and quantitative analysis of unconjugated C(27) bile acids in plasma and blood samples by tandem mass spectrometry
    • Johnson DW, ten Brink HJ, Schult RC, Jakobs C (2001) Rapid and quantitative analysis of unconjugated C(27) bile acids in plasma and blood samples by tandem mass spectrometry. J Lipid Res 42: 9-16
    • (2001) J Lipid Res , vol.42 , pp. 9-16
    • Johnson, D.W.1    Ten Brink, H.J.2    Schult, R.C.3    Jakobs, C.4
  • 24
    • 0034753097 scopus 로고    scopus 로고
    • A rapid screening procedure for cholesterol and dehydrocholesterol by electrospray ionization tandem mass spectrometry
    • Johnson DW, ten Brink HJ, Jakobs C (2001) A rapid screening procedure for cholesterol and dehydrocholesterol by electrospray ionization tandem mass spectrometry. J Lipid Res 42: 1699-1705
    • (2001) J Lipid Res , vol.42 , pp. 1699-1705
    • Johnson, D.W.1    Ten Brink, H.J.2    Jakobs, C.3
  • 25
    • 0035051242 scopus 로고    scopus 로고
    • Diagnosis of adrenal cortical dysfunction by liquid chromatography- tandem mass spectrometry
    • Kao PC, Machacek DA, Magera MJ, Lacey JM, Rinaldo P (2001) Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry. Ann Clin Lab Sci 31: 199-204
    • (2001) Ann Clin Lab Sci , vol.31 , pp. 199-204
    • Kao, P.C.1    Machacek, D.A.2    Magera, M.J.3    Lacey, J.M.4    Rinaldo, P.5
  • 26
    • 0036271223 scopus 로고    scopus 로고
    • High-throughput analysis of hemoglobin from neonates using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
    • Kiernan UA, Black JA, Williams P, Nelson RW (2002) High-throughput analysis of hemoglobin from neonates using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Clin Chem 48: 947-949
    • (2002) Clin Chem , vol.48 , pp. 947-949
    • Kiernan, U.A.1    Black, J.A.2    Williams, P.3    Nelson, R.W.4
  • 27
    • 0034974003 scopus 로고    scopus 로고
    • Direct injection method for quantitation of endogenous leukotriene E4 in human urine by liquid chromatography/electrospray ionization tandem mass spectrometry with a column-switching technique
    • Kishi N, Mano N, Asakawa N (2001) Direct injection method for quantitation of endogenous leukotriene E4 in human urine by liquid chromatography/electrospray ionization tandem mass spectrometry with a column-switching technique. Anal Sci 17: 709-713
    • (2001) Anal Sci , vol.17 , pp. 709-713
    • Kishi, N.1    Mano, N.2    Asakawa, N.3
  • 28
    • 0036153476 scopus 로고    scopus 로고
    • Analysis of catecholamines in urine by positive-ion electrospray tandem mass spectrometry
    • Kushnir MM, Urry FM, Frank EL, Roberts WL, Shushan B (2002) Analysis of catecholamines in urine by positive-ion electrospray tandem mass spectrometry. Clin Chem 48: 323-331
    • (2002) Clin Chem , vol.48 , pp. 323-331
    • Kushnir, M.M.1    Urry, F.M.2    Frank, E.L.3    Roberts, W.L.4    Shushan, B.5
  • 29
    • 0346207568 scopus 로고    scopus 로고
    • A method for the determination of transferrin isoforms by liquid chromatography-mass spectrometry
    • Lacey JM, Magera MJ, Matern D, O'Brien JF (2000) A method for the determination of transferrin isoforms by liquid chromatography-mass spectrometry. J Inherit Metab Dis 23[Suppl 1]: 179
    • (2000) J Inherit Metab Dis , vol.23 , Issue.1 SUPPL. , pp. 179
    • Lacey, J.M.1    Magera, M.J.2    Matern, D.3    O'Brien, J.F.4
  • 30
    • 0036151077 scopus 로고    scopus 로고
    • Monitoring of congenital adrenal hyperplasia by microbore HPLC-electrospray ionization tandem mass spectrometry of dried blood spots
    • Lai CC, Tsai CH, Tsai FJ, Wu JY, Lin WD, Lee CC (2002) Monitoring of congenital adrenal hyperplasia by microbore HPLC-electrospray ionization tandem mass spectrometry of dried blood spots. Clin Chem 48: 354-356
    • (2002) Clin Chem , vol.48 , pp. 354-356
    • Lai, C.C.1    Tsai, C.H.2    Tsai, F.J.3    Wu, J.Y.4    Lin, W.D.5    Lee, C.C.6
  • 31
    • 0035557687 scopus 로고    scopus 로고
    • MALDI TOF mass spectrometry: An emerging platform for genomics and diagnostics
    • Leushner J (2001) MALDI TOF mass spectrometry: an emerging platform for genomics and diagnostics. Expert Rev Mol Diagn 1: 11-18
    • (2001) Expert Rev Mol Diagn , vol.1 , pp. 11-18
    • Leushner, J.1
  • 33
    • 0037233628 scopus 로고    scopus 로고
    • Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib
    • Li Y, Ogata Y, Freeze HH, Scott CR, Turecek F, Gelb MH (2003) Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib. Anal Chem 75: 42-48
    • (2003) Anal Chem , vol.75 , pp. 42-48
    • Li, Y.1    Ogata, Y.2    Freeze, H.H.3    Scott, C.R.4    Turecek, F.5    Gelb, M.H.6
  • 36
    • 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
  • 37
    • 0035087346 scopus 로고    scopus 로고
    • Determination of homovanillic acid in urine by stable isotope dilution and electrospray tandem mass spectrometry
    • Magera MJ, Stoor AL, Helgeson JK, Matern D, Rinaldo P (2001) Determination of homovanillic acid in urine by stable isotope dilution and electrospray tandem mass spectrometry. Clin Chim Acta 306: 35-41
    • (2001) Clin Chim Acta , vol.306 , pp. 35-41
    • Magera, M.J.1    Stoor, A.L.2    Helgeson, J.K.3    Matern, D.4    Rinaldo, P.5
  • 38
    • 0034923505 scopus 로고    scopus 로고
    • Analysis of proteins and proteomes by mass spectrometry
    • Mann M, Hendrickson RC, Pandey A (2001) Analysis of proteins and proteomes by mass spectrometry. Annu Rev Biochem 70: 437-473
    • (2001) Annu Rev Biochem , vol.70 , pp. 437-473
    • Mann, M.1    Hendrickson, R.C.2    Pandey, A.3
  • 39
    • 0009570424 scopus 로고    scopus 로고
    • Analysis of dicarboxylic-acylcarnitines by electrospray-tandem mass spectrometry (ESI-MSMS) without derivatisation. Implications for neonatal screening and routine diagnosis
    • Manning NJ, Maloney M, Olpin SE, Pollitt RJ, Bonham JR, Heap SJ, Downing M (2001) Analysis of dicarboxylic-acylcarnitines by electrospray-tandem mass spectrometry (ESI-MSMS) without derivatisation. Implications for neonatal screening and routine diagnosis. J Inherit Metab Dis 24[Suppl 1]: 6
    • (2001) J Inherit Metab Dis , vol.24 , Issue.1 SUPPL. , pp. 6
    • Manning, N.J.1    Maloney, M.2    Olpin, S.E.3    Pollitt, R.J.4    Bonham, J.R.5    Heap, S.J.6    Downing, M.7
  • 40
    • 0032494567 scopus 로고    scopus 로고
    • Leukotriene C4-synthesis deficiency: A new inborn error of metabolism linked to a fatal developmental syndrome
    • Mayatepek E, Flock B (1998) Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome. Lancet 352: 1514-1517
    • (1998) Lancet , vol.352 , pp. 1514-1517
    • Mayatepek, E.1    Flock, B.2
  • 41
    • 0034717226 scopus 로고    scopus 로고
    • Optimization of a capillary electrophoresis-electrospray mass spectrometry method for the quantitation of the 20 natural amino acids in childrens blood
    • Martin-Girardeau A, Renou-Gonnord MF (2000) Optimization of a capillary electrophoresis-electrospray mass spectrometry method for the quantitation of the 20 natural amino acids in childrens blood. J Chromatogr B Biomed Sci Appl 742: 163-171
    • (2000) J Chromatogr B Biomed Sci Appl , vol.742 , pp. 163-171
    • Martin-Girardeau, A.1    Renou-Gonnord, M.F.2
  • 43
    • 0036596887 scopus 로고    scopus 로고
    • Emerging bioinformatics for the metabolome
    • Mendes P (2002) Emerging bioinformatics for the metabolome. Brief Bioinform 3: 134-145
    • (2002) Brief Bioinform , vol.3 , pp. 134-145
    • Mendes, P.1
  • 44
    • 0021176743 scopus 로고
    • Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to the identification and analysis of acylcarnitines in metabolic disease
    • Millington DS, Roe CR, Maltby DA (1984) Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to the identification and analysis of acylcarnitines in metabolic disease. Biomed Mass Spectrom 11: 236-241
    • (1984) Biomed Mass Spectrom , vol.11 , pp. 236-241
    • Millington, D.S.1    Roe, C.R.2    Maltby, D.A.3
  • 48
    • 0033592220 scopus 로고    scopus 로고
    • Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry
    • Mushtaq I, Logan S, Morris M, Johnson AW, Wade AM, Kelly D, Clayton PT (1999) Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry. BMJ 319: 471-477
    • (1999) BMJ , vol.319 , pp. 471-477
    • Mushtaq, I.1    Logan, S.2    Morris, M.3    Johnson, A.W.4    Wade, A.M.5    Kelly, D.6    Clayton, P.T.7
  • 49
    • 0032706073 scopus 로고    scopus 로고
    • Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism
    • Naylor EW, Chace DH (1999) Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol 14[Suppl 1]: S4-S8
    • (1999) J Child Neurol , vol.14 , Issue.1 SUPPL.
    • Naylor, E.W.1    Chace, D.H.2
  • 51
    • 0031779446 scopus 로고    scopus 로고
    • Remethylation defects: Guidelines for clinical diagnosis and treatment
    • Ogier de Baulny H, Gerard M, Saudubray JM, Zittoun J (1998) Remethylation defects: guidelines for clinical diagnosis and treatment. Eur J Pediatr 157[Suppl 2]: S77-S83
    • (1998) Eur J Pediatr , vol.157 , Issue.2 SUPPL.
    • Ogier De Baulny, H.1    Gerard, M.2    Saudubray, J.M.3    Zittoun, J.4
  • 52
    • 0034722068 scopus 로고    scopus 로고
    • Parameter optimization for the analysis of underivatized protein amino acids by liquid chromatography and ionspray tandem mass spectrometry
    • Petritis K, Chaimbault P, Elfakir C, Dreux M (2000) Parameter optimization for the analysis of underivatized protein amino acids by liquid chromatography and ionspray tandem mass spectrometry. J Chromatogr A 896: 253-263
    • (2000) J Chromatogr A , vol.896 , pp. 253-263
    • Petritis, K.1    Chaimbault, P.2    Elfakir, C.3    Dreux, M.4
  • 53
    • 0029121111 scopus 로고
    • Diagnosis of inborn errors of metabolism from blood spots by a-cylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry
    • Rashed MS, Ozand PT, Bucknall MP, Little D (1995) Diagnosis of inborn errors of metabolism from blood spots by a-cylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 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
  • 54
    • 0035137222 scopus 로고    scopus 로고
    • Long-term evaluation of electrospray ionization mass spectrometric analysis of glycated hemoglobin
    • Roberts NB, Amara AB, Morris M, Green BN (2001) Long-term evaluation of electrospray ionization mass spectrometric analysis of glycated hemoglobin. Clin Chem 47: 316-321
    • (2001) Clin Chem , vol.47 , pp. 316-321
    • Roberts, N.B.1    Amara, A.B.2    Morris, M.3    Green, B.N.4
  • 55
    • 0035040631 scopus 로고    scopus 로고
    • Proteomics in neuropsychiatric disorders
    • Rohlff C (2001) Proteomics in neuropsychiatric disorders. Int J Neuropsychopharmacol 4: 93-102
    • (2001) Int J Neuropsychopharmacol , vol.4 , pp. 93-102
    • Rohlff, C.1
  • 57
    • 0033452496 scopus 로고    scopus 로고
    • High-throughput sample preparation and analysis using 96-well membrane solid-phase extraction and liquid chromatography-tandem mass spectrometry for the determination of steroids in human urine
    • Rule G, Henion J (1999) High-throughput sample preparation and analysis using 96-well membrane solid-phase extraction and liquid chromatography-tandem mass spectrometry for the determination of steroids in human urine. J Am Soc Mass Spectrom 10: 1322-1327
    • (1999) J Am Soc Mass Spectrom , vol.10 , pp. 1322-1327
    • Rule, G.1    Henion, J.2
  • 58
    • 0037381036 scopus 로고    scopus 로고
    • Tandem mass spectrometric determination of malonylcarnitine: Diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency
    • Santer R, Fingerhut R, Lässker U, Wightman PJ, Fitzpatrick DR, Olgemöller B, Roscher AA (2003) Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency. Clin Chem 49: 660-662
    • (2003) Clin Chem , vol.49 , pp. 660-662
    • Santer, R.1    Fingerhut, R.2    Lässker, U.3    Wightman, P.J.4    Fitzpatrick, D.R.5    Olgemöller, B.6    Roscher, A.A.7
  • 60
    • 0035022471 scopus 로고    scopus 로고
    • Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration
    • Smith WE, Millington DS, Koeberl DD, Lesser PS (2001) Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. Pediatrics 107: 1184-1187
    • (2001) Pediatrics , vol.107 , pp. 1184-1187
    • Smith, W.E.1    Millington, D.S.2    Koeberl, D.D.3    Lesser, P.S.4
  • 62
    • 0034113953 scopus 로고    scopus 로고
    • Assay for free and total carnitine in human plasma using tandem mass spectrometry
    • Stevens RD, Hillman SL, Worthy S, Sanders D, Millington DS (2000) Assay for free and total carnitine in human plasma using tandem mass spectrometry. Clin Chem 46: 727-729
    • (2000) Clin Chem , vol.46 , pp. 727-729
    • Stevens, R.D.1    Hillman, S.L.2    Worthy, S.3    Sanders, D.4    Millington, D.S.5
  • 63
    • 0036161596 scopus 로고    scopus 로고
    • Mass spectrometry in coupling with affinity capture-release and isotope-coded affinity tags for quantitative protein analysis
    • Turecek F (2002) Mass spectrometry in coupling with affinity capture-release and isotope-coded affinity tags for quantitative protein analysis. J Mass Spectrom 37: 1-14
    • (2002) J Mass Spectrom , vol.37 , pp. 1-14
    • Turecek, F.1
  • 64
    • 0033634995 scopus 로고    scopus 로고
    • Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips
    • Van Lenthe H, van Kuilenburg AB, Ito T, Bootsma AH, van Cruchten A, Wada Y, van Gennip AH (2000) Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips. Clin Chem 46: 1916-1922
    • (2000) Clin Chem , vol.46 , pp. 1916-1922
    • Van Lenthe, H.1    Van Kuilenburg, A.B.2    Ito, T.3    Bootsma, A.H.4    Van Cruchten, A.5    Wada, Y.6    Van Gennip, A.H.7
  • 67
    • 0034040954 scopus 로고    scopus 로고
    • Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders
    • Vreken P, Valianpour F, Overmars H, Barth PG, Selhorst JJ, van Gennip AH, Wanders RJ (2000) Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders. J Inherit Metab Dis 23: 429-433
    • (2000) J Inherit Metab Dis , vol.23 , pp. 429-433
    • Vreken, P.1    Valianpour, F.2    Overmars, H.3    Barth, P.G.4    Selhorst, J.J.5    Van Gennip, A.H.6    Wanders, R.J.7
  • 69
    • 0035717736 scopus 로고    scopus 로고
    • Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry
    • Whitfield PD, Sharp PC, Johnson DW, Nelson P, Meikle PJ (2001) Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry. Mol Genet Metab 73: 30-37
    • (2001) Mol Genet Metab , vol.73 , pp. 30-37
    • Whitfield, P.D.1    Sharp, P.C.2    Johnson, D.W.3    Nelson, P.4    Meikle, P.J.5
  • 70
    • 0002041303 scopus 로고    scopus 로고
    • Two years of routine newborn screening by tandem mass spectrometry (MS/MS) in New South Wales, Australia
    • Wilcken B, Wiley V, Carpenter K (2000) Two years of routine newborn screening by tandem mass spectrometry (MS/MS) in New South Wales, Australia. J Inherit Metab Dis 23[Suppl 1]: 4
    • (2000) J Inherit Metab Dis , vol.23 , Issue.1 SUPPL. , pp. 4
    • Wilcken, B.1    Wiley, V.2    Carpenter, K.3
  • 71
    • 0031781126 scopus 로고    scopus 로고
    • Homocystinuria due to cystathionine beta-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 beta-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
  • 72
    • 0031049767 scopus 로고    scopus 로고
    • Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry
    • Zimmerman PA, Hercules DM, Naylor EW (1997) Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry. Am J Med Genet 68: 300-304
    • (1997) Am J Med Genet , vol.68 , pp. 300-304
    • Zimmerman, P.A.1    Hercules, D.M.2    Naylor, E.W.3
  • 73
    • 0033667891 scopus 로고    scopus 로고
    • Progressive infantile neurodegeneration caused by 2-methyl-3- hydroxybutyryl-Coa dehydrogenase deficiency: A novel inborn error of branched-chain fatty acid and isoleucine metabolism
    • Zschocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E (2000) Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr Res 48: 852-855
    • (2000) Pediatr Res , vol.48 , pp. 852-855
    • Zschocke, J.1    Ruiter, J.P.2    Brand, J.3    Lindner, M.4    Hoffmann, G.F.5    Wanders, R.J.6    Mayatepek, E.7
  • 74
    • 0034775820 scopus 로고    scopus 로고
    • Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England Newborn Screening Program
    • Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF (2001) Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 47: 1945-1955
    • (2001) Clin Chem , vol.47 , pp. 1945-1955
    • Zytkovicz, T.H.1    Fitzgerald, E.F.2    Marsden, D.3    Larson, C.A.4    Shih, V.E.5    Johnson, D.M.6    Strauss, A.W.7    Comeau, A.M.8    Eaton, R.B.9    Grady, G.F.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.