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Volumn 169, Issue 5, 2010, Pages 569-572

Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1

Author keywords

HT1; Newborn screening; Nitisinone

Indexed keywords

ALPHA FETOPROTEIN; FUMARYLACETOACETASE; NITISINONE; SUCCINYLACETONE; TYROSINE;

EID: 77952095448     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-1074-1     Document Type: Article
Times cited : (10)

References (24)
  • 1
    • 65949099515 scopus 로고    scopus 로고
    • Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS
    • 10.1002/bmc.1049 1:CAS:528:DC%2BD1cXhsVOjtb7L 18651606
    • OY Al-Dirbashi MS Rashed M Jacob, et al. 2008 Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS Biomed Chromatogr 22 1181 1185 10.1002/bmc.1049 1:CAS:528:DC%2BD1cXhsVOjtb7L 18651606
    • (2008) Biomed Chromatogr , vol.22 , pp. 1181-1185
    • Al-Dirbashi, O.Y.1    Rashed, M.S.2    Jacob, M.3
  • 2
    • 6344262303 scopus 로고    scopus 로고
    • Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: Analysis of succinylacetone extracted from dried blood spots
    • DOI 10.1016/j.clinbiochem.2004.07.006, PII S0009912004002024
    • P Allard A Grenier MS Korson TH Zytkovicz 2004 Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots Clin Biochem 37 1010 1015 10.1016/j. clinbiochem.2004.07.006 1:CAS:528:DC%2BD2cXovV2gs7s%3D 15498530 (Pubitemid 39388663)
    • (2004) Clinical Biochemistry , vol.37 , Issue.11 , pp. 1010-1015
    • Allard, P.1    Grenier, A.2    Korson, M.S.3    Zytkovicz, T.H.4
  • 3
    • 33646474578 scopus 로고    scopus 로고
    • Nitisinone (NTBC) treatment of hepatorenal tyrosinemia in Quebec
    • F Alvarez, et al. 2005 Nitisinone (NTBC) treatment of hepatorenal tyrosinemia in Quebec J Inherit Metab Dis 28 Suppl 1 49
    • (2005) J Inherit Metab Dis , vol.28 , Issue.SUPPL 1 , pp. 49
    • Alvarez, F.1
  • 4
    • 0035196687 scopus 로고    scopus 로고
    • The pathophysiology and treatment of hereditary tyrosinemia type 1
    • DOI 10.1055/s-2001-19035
    • M Grompe 2001 The pathophysiology and treatment of hereditary tyrosinemia type 1 Semin Liver Dis 21 563 571 10.1055/s-2001-19035 1:CAS:528: DC%2BD38XislCjsQ%3D%3D 11745044 (Pubitemid 33131048)
    • (2001) Seminars in Liver Disease , vol.21 , Issue.4 , pp. 563-571
    • Grompe, M.1
  • 5
    • 0031871486 scopus 로고    scopus 로고
    • Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3- cyclohexanedione)
    • DOI 10.1023/A:1005410820201
    • E Holme S Lindstedt 1998 Tyrosinaemia type I and NTBC (2-(2-nitro-4- trifluoromethylbenzoyl)-1, 3-cyclohexanedione) J Inherit Metab Dis 21 507 517 10.1023/A:1005410820201 1:CAS:528:DyaK1cXlslyksrs%3D 9728331 (Pubitemid 28391503)
    • (1998) Journal of Inherited Metabolic Disease , vol.21 , Issue.5 , pp. 507-517
    • Holme, E.1    Lindstedt, S.2
  • 6
    • 0033758431 scopus 로고    scopus 로고
    • Nontransplant treatment of tyrosinemia
    • 10.1016/S1089-3261(05)70142-2 1:STN:280:DC%2BD3MzgtV2rsQ%3D%3D 11232358
    • E Holme S Lindstedt 2000 Nontransplant treatment of tyrosinemia Clin Liver Dis 4 805 814 10.1016/S1089-3261(05)70142-2 1:STN:280: DC%2BD3MzgtV2rsQ%3D%3D 11232358
    • (2000) Clin Liver Dis , vol.4 , pp. 805-814
    • Holme, E.1    Lindstedt, S.2
  • 7
    • 0020537182 scopus 로고
    • Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia
    • 1:STN:280:DyaL3s7pt1ehtQ%3D%3D 6188953
    • MK Hostetter HL Levy HS Winter GJ Knight JE Haddow 1983 Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia N Engl J Med 308 1265 1267 1:STN:280:DyaL3s7pt1ehtQ%3D%3D 6188953
    • (1983) N Engl J Med , vol.308 , pp. 1265-1267
    • Hostetter, M.K.1    Levy, H.L.2    Winter, H.S.3    Knight, G.J.4    Haddow, J.E.5
  • 10
    • 0000919166 scopus 로고
    • On the enzymatic defects in hereditary tyrosinemia
    • 10.1073/pnas.74.10.4641
    • B Lindblad S Lindstedt G Steen 1974 On the enzymatic defects in hereditary tyrosinemia Proc Natl Acad Sci 74 4641 4645 10.1073/pnas.74.10.4641
    • (1974) Proc Natl Acad Sci , vol.74 , pp. 4641-4645
    • Lindblad, B.1    Lindstedt, S.2    Steen, G.3
  • 11
    • 0026675589 scopus 로고
    • Treatment of hereditary tyrosinaemia type i by inhibition of 4-hydroxyphenylpyruvate dioxygenase
    • 10.1016/0140-6736(92)92685-9 1:STN:280:DyaK3s%2FitlWlsw%3D%3D 1383656
    • S Lindstedt E Holme EA Lock O Hjalmarson, et al. 1992 Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase Lancet 340 813 817 10.1016/0140-6736(92)92685-9 1:STN:280: DyaK3s%2FitlWlsw%3D%3D 1383656
    • (1992) Lancet , vol.340 , pp. 813-817
    • Lindstedt, S.1    Holme, E.2    Lock, E.A.3    Hjalmarson, O.4
  • 12
    • 33646488382 scopus 로고    scopus 로고
    • Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type i
    • 10.1016/j.ymgme.2005.12.005 1:CAS:528:DC%2BD28XjvVGgtr4%3D 16448836
    • MJ Magera N Gunawardena D Matern, et al. 2006 Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I Mol Genet Metab 88 16 21 10.1016/j.ymgme.2005.12.005 1:CAS:528: DC%2BD28XjvVGgtr4%3D 16448836
    • (2006) Mol Genet Metab , vol.88 , pp. 16-21
    • Magera, M.J.1    Gunawardena, N.2    Matern, D.3
  • 16
    • 33644554175 scopus 로고    scopus 로고
    • Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone
    • 10.1373/clinchem.2005.059790 1:CAS:528:DC%2BD28Xit1ShtLg%3D 16439608
    • J Sander N Janzen M Peter, et al. 2006 Newborn screening for hepatorenal tyrosinemia: tandem mass spectrometric quantification of succinylacetone Clin Chem 52 482 487 10.1373/clinchem.2005.059790 1:CAS:528:DC%2BD28Xit1ShtLg%3D 16439608
    • (2006) Clin Chem , vol.52 , pp. 482-487
    • Sander, J.1    Janzen, N.2    Peter, M.3
  • 17
    • 43049172048 scopus 로고    scopus 로고
    • Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1
    • DOI 10.1517/14656566.9.7.1229
    • S Santra U Baumann 2008 Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1 Expert Opin Pharmacother. 9 1229 1236 10.1517/14656566.9.7.1229 1:CAS:528:DC%2BD1cXkvVemsbg%3D 18422479 (Pubitemid 351721759)
    • (2008) Expert Opinion on Pharmacotherapy , vol.9 , Issue.7 , pp. 1229-1236
    • Santra, S.1    Baumann, U.2
  • 18
    • 0034924230 scopus 로고    scopus 로고
    • Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type i
    • 1:CAS:528:DC%2BD3MXls1Squrs%3D 11468232
    • A Schulze D Frommhold GF Hoffmann E Mayatepek 2001 Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I Clin Chem 47 1424 1429 1:CAS:528:DC%2BD3MXls1Squrs%3D 11468232
    • (2001) Clin Chem , vol.47 , pp. 1424-1429
    • Schulze, A.1    Frommhold, D.2    Hoffmann, G.F.3    Mayatepek, E.4
  • 19
    • 33646524557 scopus 로고    scopus 로고
    • The genetic tyrosinemias
    • 10.1002/ajmg.c.30092 1:CAS:528:DC%2BD2sXms1Wisbw%3D 16602095
    • CR Scott 2006 The genetic tyrosinemias Am J Med Genet Part C Semin Med Genet 142C 121 126 10.1002/ajmg.c.30092 1:CAS:528:DC%2BD2sXms1Wisbw%3D 16602095
    • (2006) Am J Med Genet Part C Semin Med Genet , vol.142 , pp. 121-126
    • Scott, C.R.1
  • 20
    • 34547824722 scopus 로고    scopus 로고
    • The current revolution in newborn screening: New technology, old controversies
    • DOI 10.1001/archpedi.161.8.767
    • BA Tarini 2007 The current revolution in newborn screening: new technology, old controversies Arch Pediatr Adolesc Med 161 767 772 10.1001/archpedi.161.8.767 17679658 (Pubitemid 47236446)
    • (2007) Archives of Pediatrics and Adolescent Medicine , vol.161 , Issue.8 , pp. 767-772
    • Tarini, B.A.1
  • 22
    • 33745172773 scopus 로고    scopus 로고
    • A journey of hope: Lessons learned from studies on rare diseases and orphan drugs
    • DOI 10.1111/j.1365-2796.2006.01666.x
    • M Wästfeld B Fadeel JI Henter 2006 A journey of hope: lessons learned from studies on rare diseases and orphan drugs J Intern Med 260 1 10 10.1111/j.1365-2796.2006.01666.x (Pubitemid 43894064)
    • (2006) Journal of Internal Medicine , vol.260 , Issue.1 , pp. 1-10
    • Wastfelt, M.1    Fadeel, B.2    Henter, J.-I.3
  • 23
    • 34648826021 scopus 로고    scopus 로고
    • Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia
    • 10.1007/s10545-007-0608-9 1:CAS:528:DC%2BD2sXhtVSisL3O 17694358
    • JF Weigel N Janzen RW Pfäffle, et al. 2007 Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia J Inherit Metab Dis 30 610 10.1007/s10545-007-0608-9 1:CAS:528:DC%2BD2sXhtVSisL3O 17694358
    • (2007) J Inherit Metab Dis , vol.30 , pp. 610
    • Weigel, J.F.1    Janzen, N.2    Pfäffle, R.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.