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Volumn 15, Issue 1, 1996, Pages 43-57

A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry - Rapid, practical, and simultaneous urinary metabolites analysis

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EID: 0001778111     PISSN: 02777037     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-2787(1996)15:1<43::AID-MAS3>3.0.CO;2-B     Document Type: Article
Times cited : (138)

References (35)
  • 2
    • 0002791432 scopus 로고
    • Newborn Screening: Past, present and future
    • Carter, T. P.; Wiley, A. M., Eds.; Alan R. Liss: New York
    • Guthrie, R. Newborn Screening: past, present and future. In Genetic Disease: Screening and Management; Carter, T. P.; Wiley, A. M., Eds.; Alan R. Liss: New York, 1986, 319-339.
    • (1986) Genetic Disease: Screening and Management , pp. 319-339
    • Guthrie, R.1
  • 3
    • 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," Pediatr. 1963, 32, 338-343.
    • (1963) Pediatr. , vol.32 , pp. 338-343
    • Guthrie, R.1    Susi, A.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 D. H.; Millington, D. S.; Terada, N.; Kahler, S. G.; Roe C. R.; Hofman, L. F. "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    Hofman, L.F.6
  • 6
    • 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, M. S.; Ozand, P. T.; Bucknall, M. P.; 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, 324-331.
    • (1995) Pediatr. Res. , vol.38 , pp. 324-331
    • Rashed, M.S.1    Ozand, P.T.2    Bucknall, M.P.3    Little, D.4
  • 7
    • 0013930049 scopus 로고
    • A simple spot screening procedure for galactosemia
    • Beutler, E.; Baluda, M. C. "A simple spot screening procedure for galactosemia," Lab. Clin. Med. 1966, 68, 137-141.
    • (1966) Lab. Clin. Med. , vol.68 , pp. 137-141
    • Beutler, E.1    Baluda, M.C.2
  • 8
    • 0016791813 scopus 로고
    • Measurement of thyroid-stimulating hormone in dried blood spot
    • Irie, M.; Enomoto, K.; Naruse, H. "Measurement of thyroid-stimulating hormone in dried blood spot," Lancet II. 1975, 1233-1234.
    • (1975) Lancet II. , pp. 1233-1234
    • Irie, M.1    Enomoto, K.2    Naruse, H.3
  • 9
    • 4243145089 scopus 로고
    • Non-radioisotopic Method for Neonatal Hypothyroid Screening
    • Therrell B. L. Jr., Ed.; Elsevier: Amsterdam
    • Naruse, H.; Suzuki, E.; Kumada, J. Non-radioisotopic Method for Neonatal Hypothyroid Screening. In Advances in Neonatal Screening; Therrell B. L. Jr., Ed.; Elsevier: Amsterdam, 1987.
    • (1987) Advances in Neonatal Screening
    • Naruse, H.1    Suzuki, E.2    Kumada, J.3
  • 11
    • 0017312773 scopus 로고
    • A highly efficient carboxylic acid analyser and its application
    • Nakajima, M.; Ozawa, Y.; Tanimura, T.; Tamura, Z. "A highly efficient carboxylic acid analyser and its application," J. Chromatogr. 1976, 123, 129.
    • (1976) J. Chromatogr. , vol.123 , pp. 129
    • Nakajima, M.1    Ozawa, Y.2    Tanimura, T.3    Tamura, Z.4
  • 12
    • 0013939704 scopus 로고
    • Automatic determination of weak organic acids by partition column chromatography and indicator titration
    • Kesner, L.; Muntwyler, E. "Automatic determination of weak organic acids by partition column chromatography and indicator titration," Anal. Chem. 1966, 38, 1164-1168.
    • (1966) Anal. Chem. , vol.38 , pp. 1164-1168
    • Kesner, L.1    Muntwyler, E.2
  • 13
    • 0010581394 scopus 로고
    • Automatic recording apparatus for use in the chromatography of amino acids
    • Spackman, D. H.; Stein, W. H.; Moore, S. "Automatic recording apparatus for use in the chromatography of amino acids," Anal. Chem. 1958, 30, 1190.
    • (1958) Anal. Chem. , vol.30 , pp. 1190
    • Spackman, D.H.1    Stein, W.H.2    Moore, S.3
  • 16
    • 84994914448 scopus 로고
    • Gas chromatography-mass spectrometry for chemical diagnosis of the inherited metabolic diseases - Differential chemical diagnosis of lactic acidosis
    • Matsumoto, I.; Kuhara, T. "Gas chromatography-mass spectrometry for chemical diagnosis of the inherited metabolic diseases - differential chemical diagnosis of lactic acidosis," Mass Spectrom. Rev. 1987, 6, 77-134.
    • (1987) Mass Spectrom. Rev. , vol.6 , pp. 77-134
    • Matsumoto, I.1    Kuhara, T.2
  • 17
    • 0003369470 scopus 로고
    • Inborn Errors of Amino Acid and Organic Acid Metabolism
    • Desiderio, D. M., Ed.; Plenum Press: New York
    • Matsumoto, I.; Kuhara, T. Inborn Errors of Amino Acid and Organic Acid Metabolism. In Mass Spectrometry; Clinical and Biomedical Applications, Vol. 1; Desiderio, D. M., Ed.; Plenum Press: New York, 1992, 259-298.
    • (1992) Mass Spectrometry; Clinical and Biomedical Applications , vol.1 , pp. 259-298
    • Matsumoto, I.1    Kuhara, T.2
  • 19
    • 0025935587 scopus 로고
    • Screening newborns for multiple organic acidurias in dried filter paper urine samples: Method development
    • Tuchman, M.; McCann, M. T.; Johnson, P. E.; Lemieux, B. "Screening newborns for multiple organic acidurias in dried filter paper urine samples: Method development," Pediatr. Res. 1991, 30, 3-16.
    • (1991) Pediatr. Res. , vol.30 , pp. 3-16
    • Tuchman, M.1    McCann, M.T.2    Johnson, P.E.3    Lemieux, B.4
  • 20
    • 0023635216 scopus 로고
    • Metabolic profiles of urinary organic acids recovered from absorbent filter paper
    • Chamberlin, B. A.; Sweeley, C. C. "Metabolic profiles of urinary organic acids recovered from absorbent filter paper," Clin. Chem. 1987, 33/4, 572-576.
    • (1987) Clin. Chem. , vol.33 , Issue.4 , pp. 572-576
    • Chamberlin, B.A.1    Sweeley, C.C.2
  • 21
    • 0016466131 scopus 로고
    • Plasma amino acid analysis by isotope ratio gas chromatography mass spectrometry computer techniques
    • Schulman, M. F.; Abramson, F. P. "Plasma amino acid analysis by isotope ratio gas chromatography mass spectrometry computer techniques," Biomed. Mass Spectrom. 1975, 2, 9-14.
    • (1975) Biomed. Mass Spectrom. , vol.2 , pp. 9-14
    • Schulman, M.F.1    Abramson, F.P.2
  • 22
    • 85033820741 scopus 로고
    • Matsumoto, I.; Sakamoto, S.; Kuhara, T.; Sudo, M.; Yoshino, M., Eds.; Soft Science: Tokyo, in Japanese
    • Kuhara, T. In GC/MS Practical Chemical Diagnosis; Matsumoto, I.; Sakamoto, S.; Kuhara, T.; Sudo, M.; Yoshino, M., Eds.; Soft Science: Tokyo, 1995, 33 (in Japanese).
    • (1995) GC/MS Practical Chemical Diagnosis , pp. 33
    • Kuhara, T.1
  • 23
    • 0001436012 scopus 로고
    • A simultaneous gas chromatoaphic mass spectrometric analysis of urinary metabolites - Application to the neonatal mass screening
    • Kuhara, T.; Matsumoto, I. "A simultaneous gas chromatoaphic mass spectrometric analysis of urinary metabolites - application to the neonatal mass screening," Proc. Jap. Soc. Biomed. Mass Spectrom. 1995, 20, 45-51.
    • (1995) Proc. Jap. Soc. Biomed. Mass Spectrom. , vol.20 , pp. 45-51
    • Kuhara, T.1    Matsumoto, I.2
  • 24
    • 85033808746 scopus 로고
    • Simple procedure for simultaneous metabolites analysis by mass spectrometry - Application to neonatal mass screening
    • in Japanese
    • Kuhara, T.; Matsumoto, I. "Simple procedure for simultaneous metabolites analysis by mass spectrometry - Application to neonatal mass screening," Advanced Medicine 1995, 2, 37-40 (in Japanese).
    • (1995) Advanced Medicine , vol.2 , pp. 37-40
    • Kuhara, T.1    Matsumoto, I.2
  • 25
    • 85033826364 scopus 로고
    • Application of chemical diagnostic procedure using gas chromatographymass spectrometry to neonatal mass screening for inborn errors of metabolism
    • in Japanese
    • Kuhara, T.; Ning, C.; Furumoto, T.; Zhang, C.; Matsumoto, M.; Inoue, Y.; Shinka, T.; Matsumoto, I. "Application of chemical diagnostic procedure using gas chromatographymass spectrometry to neonatal mass screening for inborn errors of metabolism," J. Kanazawa Med. Univ. 1995, 20, 521-526 (in Japanese).
    • (1995) J. Kanazawa Med. Univ. , vol.20 , pp. 521-526
    • Kuhara, T.1    Ning, C.2    Furumoto, T.3    Zhang, C.4    Matsumoto, M.5    Inoue, Y.6    Shinka, T.7    Matsumoto, I.8
  • 26
    • 85033806567 scopus 로고
    • Point, linear and planar analysis for chemical diagnosis
    • in Japanese
    • Matsumoto, I. "Point, linear and planar analysis for chemical diagnosis," Jap. Soc. Biomed. Mass Spectrom. Circular 1994, 32, 7-8 (in Japanese).
    • (1994) Jap. Soc. Biomed. Mass Spectrom. Circular , vol.32 , pp. 7-8
    • Matsumoto, I.1
  • 27
    • 0025129387 scopus 로고
    • Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
    • Millington, D. S.; Kodo, N.; Norwood, D. L.; Roe, C. R. "Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism," J. Inherit Metab. Dis. 1990, 13, 321-324.
    • (1990) J. Inherit Metab. Dis. , vol.13 , pp. 321-324
    • Millington, D.S.1    Kodo, N.2    Norwood, D.L.3    Roe, C.R.4
  • 28
    • 0028895728 scopus 로고
    • Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry
    • Chace, D. H.; Hillman, S. L.; Millington, D. S.; Kahler, S. G.; Roe, C. R.; Naylor, E. W. "Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry," Clin. Chem. 1995, 41, 62-68.
    • (1995) Clin. Chem. , vol.41 , pp. 62-68
    • Chace, D.H.1    Hillman, S.L.2    Millington, D.S.3    Kahler, S.G.4    Roe, C.R.5    Naylor, E.W.6
  • 29
    • 0029940590 scopus 로고    scopus 로고
    • Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry
    • Chace, D. H.; Hillman, S. L.; Millington, D. S.; Kahler, S. G.; Adam, B. W.; Levy, H. L. "Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry," Clin. Chem. 1996, 42, 349-355.
    • (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
  • 30
    • 0030111467 scopus 로고    scopus 로고
    • Newborn screening by tandem mass spectrometry (MS-MS)
    • Sweetman, L. "Newborn screening by tandem mass spectrometry (MS-MS)," Clin. Chem. 1996, 42, 345-346.
    • (1996) Clin. Chem. , vol.42 , pp. 345-346
    • Sweetman, L.1
  • 31
    • 4243115248 scopus 로고    scopus 로고
    • Application of a new analytical procedure using GC/MS to the mass screening of metabolic disorders - Simultaneous urinary metabolites analysis
    • Kuhara, T.; Shinka, T.; Inoue, Y.; Matsumoto, M.; Ning, C.; Zhang, C.; Furumoto, T.; Matsumoto, I. "Application of a new analytical procedure using GC/MS to the mass screening of metabolic disorders - Simultaneous urinary metabolites analysis," Proc. Jap. Soc. Biomed. Mass Spectrom. 1996, 21, 73-82.
    • (1996) Proc. Jap. Soc. Biomed. Mass Spectrom. , vol.21 , pp. 73-82
    • Kuhara, T.1    Shinka, T.2    Inoue, Y.3    Matsumoto, M.4    Ning, C.5    Zhang, C.6    Furumoto, T.7    Matsumoto, I.8
  • 32
    • 0026023965 scopus 로고
    • Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease
    • Shoemaker, J. D.; Elliott, W. H. "Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease," J. Chromatogr. 1991, 562, 125-138.
    • (1991) J. Chromatogr. , vol.562 , pp. 125-138
    • Shoemaker, J.D.1    Elliott, W.H.2
  • 34
    • 0030605504 scopus 로고    scopus 로고
    • Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de toni-fanconi-debre syndrome by GC/MS
    • Ning, C.; Kuhara, T.; Matsumoto, I. "Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de toni-fanconi-debre syndrome by GC/MS," Clin. Chim. Acta 1996, 247, 197-200.
    • (1996) Clin. Chim. Acta , vol.247 , pp. 197-200
    • Ning, C.1    Kuhara, T.2    Matsumoto, I.3
  • 35
    • 85033808738 scopus 로고    scopus 로고
    • A family study of 2,8-dihydroxyadenine stone - Report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0)
    • to appear
    • Suzuki, K.; Kobayashi, S.; Kawamura, K.; Kuhara, T.; Tsugawa, R. "A family study of 2,8-dihydroxyadenine stone - Report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0)," Int. J. Urol., to appear.
    • Int. J. Urol.
    • Suzuki, K.1    Kobayashi, S.2    Kawamura, K.3    Kuhara, T.4    Tsugawa, R.5


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