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Volumn 73, Issue 11, 2006, Pages 1981-1990

Inborn errors of metabolism in infancy and early childhood: An update

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; ARGININE; BENZOIC ACID; BETA GLUCOSIDASE; BICARBONATE; CYANOCOBALAMIN; GLUCOSYLCERAMIDASE; PYRIDOXINE; SODIUM CARBONATE; TYROSINE;

EID: 33744959980     PISSN: 0002838X     EISSN: 0002838X     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (77)

References (15)
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    • Applegarth DA, Toone JR, Lowry RB. Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 2000;105:e10.
    • (2000) Pediatrics , vol.105
    • Applegarth, D.A.1    Toone, J.R.2    Lowry, R.B.3
  • 4
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    • Screening newborns for inborn errors of metabolism by tandem mass spectrometry
    • Wilcken B, Wiley V, Hammond J, Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 2003;348:2304-12.
    • (2003) N Engl J Med , vol.348 , pp. 2304-2312
    • Wilcken, B.1    Wiley, V.2    Hammond, J.3    Carpenter, K.4
  • 5
    • 0345283272 scopus 로고    scopus 로고
    • Expanding newborn screening: How good is the evidence?
    • Holtzman NA. Expanding newborn screening: how good is the evidence? JAMA 2003;290:2606-8.
    • (2003) JAMA , vol.290 , pp. 2606-2608
    • Holtzman, N.A.1
  • 6
    • 0344081182 scopus 로고    scopus 로고
    • Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress
    • Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, et al. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 2003;290:2564-72.
    • (2003) JAMA , vol.290 , pp. 2564-2572
    • Waisbren, S.E.1    Albers, S.2    Amato, S.3    Ampola, M.4    Brewster, T.G.5    Demmer, L.6
  • 7
    • 84858900026 scopus 로고    scopus 로고
    • National Newborn Screening and Genetics Resource Center
    • University of Texas Health Science Center at San Antonio. National Newborn Screening and Genetics Resource Center. Accessed online January 10, 2006, at: http://genes-r-us.uthscsa.edu.
  • 10
    • 0031813923 scopus 로고    scopus 로고
    • Proton magnetic resonance spectroscopy: An emerging technology in pediatric neurology research
    • Novotny E, Ashwal S, Shevell M. Proton magnetic resonance spectroscopy: an emerging technology in pediatric neurology research. Pediatr Res 1998;44:1-10.
    • (1998) Pediatr Res , vol.44 , pp. 1-10
    • Novotny, E.1    Ashwal, S.2    Shevell, M.3
  • 11
    • 0029682352 scopus 로고    scopus 로고
    • Electron microscopic examination of skin biopsy as a cost-effective tool in the diagnosis of lysosomal storage diseases
    • Prasad A, Kaye EM, Alroy J. Electron microscopic examination of skin biopsy as a cost-effective tool in the diagnosis of lysosomal storage diseases. J Child Neurol 1996;11:301-8.
    • (1996) J Child Neurol , vol.11 , pp. 301-308
    • Prasad, A.1    Kaye, E.M.2    Alroy, J.3
  • 12
    • 0029977276 scopus 로고    scopus 로고
    • Maternal phenylketonuria: A metabolic teratogen
    • Levy HL, Ghavami M. Maternal phenylketonuria: a metabolic teratogen. Teratology 1996;53:176-84.
    • (1996) Teratology , vol.53 , pp. 176-184
    • Levy, H.L.1    Ghavami, M.2
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    • National Institutes of Health
    • GeneTests. National Institutes of Health. Accessed online January 10, 2006, at: http://www.genetests.org.
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    • National Institutes of Health
    • National Human Genome Research Institute. National Institutes of Health. Accessed online January 10, 2006, at: http://www.genome.gov/.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.