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Volumn 32, Issue SUPPL. 1, 2009, Pages

False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; DRUG DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE; GLUTARYLCARNITINE;

EID: 84881060766     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9017-6     Document Type: Article
Times cited : (15)

References (16)
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    • Glutaryl-CoA dehydrogenase deficiency and newborn screening: Retrospective analysis of a low excretor provides further evidence that some cases may be missed
    • DOI 10.1016/j.ymgme.2005.08.005, PII S109671920500260X
    • Gallagher RC, Cowan TM, Goodman SI, Enns GM (2005) Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed. Mol Genet Metab 86:417-420 (Pubitemid 41562571)
    • (2005) Molecular Genetics and Metabolism , vol.86 , Issue.3 , pp. 417-420
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  • 10
    • 4344671931 scopus 로고    scopus 로고
    • Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening
    • DOI 10.1023/B:BOLI.0000037343.90450.8d
    • Napolitano N, Wiley V, Pitt JJ (2004) Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening. J Inher Metab Dis 27:465-471 (Pubitemid 39140137)
    • (2004) Journal of Inherited Metabolic Disease , vol.27 , Issue.4 , pp. 465-471
    • Napolitano, N.1    Wiley, V.2    Pitt, J.J.3
  • 11
    • 0035022471 scopus 로고    scopus 로고
    • Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration
    • DOI 10.1542/peds.107.5.1184
    • 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 (Pubitemid 32440632)
    • (2001) Pediatrics , vol.107 , Issue.5 , pp. 1184-1187
    • Smith, W.E.1    Millington, D.S.2    Koeberl, D.D.3    Lesser, P.S.4
  • 12
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    • Identification of OATP1B3 as a high-affinity hepatocellular transporter of paclitaxel
    • Smith NF, Acharya MR, Desai N, Figg WD, Sparreboom A (2005) Identification of OATP1B3 as a high-affinity hepatocellular transporter of paclitaxel. Cancer Biol Ther 4:815-818
    • (2005) Cancer Biol Ther , vol.4 , pp. 815-818
    • Smith, N.F.1    Acharya, M.R.2    Desai, N.3    Figg, W.D.4    Sparreboom, A.5
  • 14
    • 0037685217 scopus 로고    scopus 로고
    • Screening newborns for inborn errors of metabolism by tandem mass spectrometry
    • DOI 10.1056/NEJMoa025225
    • Wilcken B, Wiley V, Hammond J, Carpenter K (2003) Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348:2304-2312 (Pubitemid 36638104)
    • (2003) New England Journal of Medicine , vol.348 , Issue.23 , pp. 2304-2312
    • Wilcken, B.1    Wiley, V.2    Hammond, J.3    Carpenter, K.4
  • 15
    • 31744443837 scopus 로고    scopus 로고
    • Functional and molecular identification of sodium-coupled dicarboxylate transporters in rat primary cultured cerebrocortical astrocytes and neurons
    • Yodoya E, Wada M, Shimada A, Katsukawa H, Okada N, Yamamoto A, Ganapathy V et al (2006) Functional and molecular identification of sodium-coupled dicarboxylate transporters in rat primary cultured cerebrocortical astrocytes and neurons. J Neurochem 97:162-173
    • (2006) J Neurochem , vol.97 , pp. 162-173
    • Yodoya, E.1    Wada, M.2    Shimada, A.3    Katsukawa, H.4    Okada, N.5    Yamamoto, A.6    Ganapathy, V.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.