메뉴 건너뛰기




Volumn 51, Issue 5, 2005, Pages 808-809

Newborn screening for lysosomal storage disorders

Author keywords

[No Author keywords available]

Indexed keywords

DIAGNOSTIC TEST; EDITORIAL; ENZYME SPECIFICITY; HIGH RISK PATIENT; INBORN ERROR OF METABOLISM; LYSOSOME STORAGE DISEASE; NEUROLOGIC DISEASE; NEWBORN SCREENING;

EID: 17744382169     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.048553     Document Type: Editorial
Times cited : (15)

References (20)
  • 1
    • 75449123150 scopus 로고
    • A simple phenylalanine method for detecting PKU in large populations of newborn infants
    • Guthrie R, Susie A. A simple phenylalanine method for detecting PKU in large populations of newborn infants. Pediatrics 1963;32;338-43.
    • (1963) Pediatrics , vol.32 , pp. 338-343
    • Guthrie, R.1    Susie, A.2
  • 2
    • 0007711197 scopus 로고
    • Newborn phenylketonuria detection program in Massachusetts
    • MacCready RA, Hussey MG. Newborn phenylketonuria detection program in Massachusetts. Am J Public Health 1964;54:2075-81.
    • (1964) Am J Public Health , vol.54 , pp. 2075-2081
    • MacCready, R.A.1    Hussey, M.G.2
  • 3
    • 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, 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
  • 4
    • 0028895728 scopus 로고
    • Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry
    • Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem 1995;41:62-8.
    • (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
  • 5
    • 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
  • 6
    • 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 DH, Hillman SL, Van Hove JLK, Naylor EW. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem 1997;43:2106-13.
    • (1997) Clin Chem , vol.43 , pp. 2106-2113
    • Chace, D.H.1    Hillman, S.L.2    Van Hove, J.L.K.3    Naylor, E.W.4
  • 7
    • 0025129387 scopus 로고
    • Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
    • Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis 1990;13:321-4.
    • (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
  • 8
    • 0030751763 scopus 로고    scopus 로고
    • Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
    • Rashed MS, Bucknall MP, Little D, Awad A, Jacob M, Alamoudi M, et al. Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem 1997;43: 1129-41.
    • (1997) Clin Chem , vol.43 , pp. 1129-1141
    • Rashed, M.S.1    Bucknall, M.P.2    Little, D.3    Awad, A.4    Jacob, M.5    Alamoudi, M.6
  • 9
    • 0034775820 scopus 로고    scopus 로고
    • Tandem mass spectrometrio 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, et al. Tandem mass spectrometrio 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 2001;47:1945-55.
    • (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
  • 10
    • 2942588994 scopus 로고    scopus 로고
    • Enzyme replacement and enhancement therapies for lysosomal diseases
    • Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis 2004;27:385-410.
    • (2004) J Inherit Metab Dis , vol.27 , pp. 385-410
    • Desnick, R.J.1
  • 11
    • 4544294311 scopus 로고    scopus 로고
    • Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy
    • Meikle PJ, Ranieri E, Simonsen H, Rozaklis T, Ramsay SL, Whitfield PD, et al. Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy. Pediatrics 2004;114:909-16.
    • (2004) Pediatrics , vol.114 , pp. 909-916
    • Meikle, P.J.1    Ranieri, E.2    Simonsen, H.3    Rozaklis, T.4    Ramsay, S.L.5    Whitfield, P.D.6
  • 12
    • 0035064872 scopus 로고    scopus 로고
    • Diagnosis of α-L-iduronidase deficiency in dried bloodspots on filter paper: The possibility of newborn diagnosis
    • Chamoles NA, Blanco M, Gaggioli D. Diagnosis of α-L-iduronidase deficiency in dried bloodspots on filter paper: the possibility of newborn diagnosis. Clin Chem 2001;47:780-1.
    • (2001) Clin Chem , vol.47 , pp. 780-781
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3
  • 13
    • 0034911699 scopus 로고    scopus 로고
    • Determination of acid α-glucosi-dase activity in blood spots as a diagnostic test for Pompe disease
    • Umapathyslvam K, Hopwood JJ, Meikle PJ. Determination of acid α-glucosi-dase activity in blood spots as a diagnostic test for Pompe disease. Clin Chem 2001;47:1378-83.
    • (2001) Clin Chem , vol.47 , pp. 1378-1383
    • Umapathyslvam, K.1    Hopwood, J.J.2    Meikle, P.J.3
  • 14
    • 0034970245 scopus 로고    scopus 로고
    • Fabry disease: Enzymatic diagnosis in dried blood spots on filter paper
    • Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 2001;308:195-6.
    • (2001) Clin Chim Acta , vol.308 , pp. 195-196
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3
  • 15
    • 0036155174 scopus 로고    scopus 로고
    • Gaucher and Niemann-Pick diseases - Enzymatic diagnosis in dried blood spots on filter paper; retrospective diagnoses in newborn-screening cards
    • Chamoles NA, Blanco M, Gaggioli D, Casentini C, Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper; retrospective diagnoses in newborn-screening cards. Clin Chim Acta 2002;317: 191-7.
    • (2002) Clin Chim Acta , vol.317 , pp. 191-197
    • Chamoles, N.A.1    Blanco, M.2    Gaggioli, D.3    Casentini, C.4
  • 16
    • 0036184049 scopus 로고    scopus 로고
    • Tay-Sachs and Sandhoff diseases: Enzymatic diagnosis in dried blood spots on filter paper: Retrospective diagnoses in newborn-screening cards
    • Chamoles NA, Bianco M, Gaggioli D, Casentini C. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta 2002;318: 133-7.
    • (2002) Clin Chim Acta , vol.318 , pp. 133-137
    • Chamoles, N.A.1    Bianco, M.2    Gaggioli, D.3    Casentini, C.4
  • 17
    • 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. Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry: application to clinical enzymology. Anal Chem 2001;73:1651-7.
    • (2001) Anal Chem , vol.73 , pp. 1651-1657
    • Gerber, S.A.1    Scott, C.R.2    Turecek, F.3    Gelb, M.H.4
  • 18
    • 4644273798 scopus 로고    scopus 로고
    • Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening
    • Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, et al. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem 2004;50:1785-6.
    • (2004) Clin Chem , vol.50 , pp. 1785-1786
    • Li, Y.1    Scott, C.R.2    Chamoles, N.A.3    Ghavami, A.4    Pinto, B.M.5    Turecek, F.6
  • 19
    • 1542299000 scopus 로고    scopus 로고
    • Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: Application to newborn screening for Krabbe disease
    • Li Y, Brockman K, Turecek F, Scott CR, Gelb MH. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem 2004;50:638-40.
    • (2004) Clin Chem , vol.50 , pp. 638-640
    • Li, Y.1    Brockman, K.2    Turecek, F.3    Scott, C.R.4    Gelb, M.H.5
  • 20
    • 17744388985 scopus 로고    scopus 로고
    • Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns
    • Wang D, Eadala B, Sadilek M, Chamoles NA, Turecek F, Scott CR, et al. Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem 2005;51:898-900.
    • (2005) Clin Chem , vol.51 , pp. 898-900
    • Wang, D.1    Eadala, B.2    Sadilek, M.3    Chamoles, N.A.4    Turecek, F.5    Scott, C.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.