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Volumn 338, Issue 7699, 2009, Pages 843-

Screening for MCAD deficiency in newborns

Author keywords

[No Author keywords available]

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

EID: 67649239031     PISSN: None     EISSN: 17561833     Source Type: Journal    
DOI: 10.1136/bmj.b971     Document Type: Editorial
Times cited : (4)

References (13)
  • 2
    • 60549100027 scopus 로고    scopus 로고
    • UK Collaborative Study of Newborn Screening for MCADD. Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: Findings from screening approximately 1.1 million newborn infants
    • [Abstract/Free Full Text]
    • Khalid JM, Oerton J, Cortina-Borja M, Andresen BS, Besley G, Dalton RN, et al. UK Collaborative Study of Newborn Screening for MCADD. Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants. J Med Screen 2008;15:112-117[Abstract/Free Full Text]
    • (2008) J Med Screen , vol.15 , pp. 112-117
    • Khalid, J.M.1    Oerton, J.2    Cortina-Borja, M.3    Andresen, B.S.4    Besley, G.5    Dalton, R.N.6
  • 3
    • 0020363432 scopus 로고
    • In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: Evidence for a defect in general acyl-CoA dehydrogenase
    • [CrossRef][ISI][Medline]
    • Kølvraa S, Gregersen N, Christensen E, Hobolth N. In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase. Clin Chim Acta 1982;126:53-67. [CrossRef][ISI][Medline]
    • (1982) Clin Chim Acta , vol.126 , pp. 53-67
    • Kølvraa, S.1    Gregersen, N.2    Christensen, E.3    Hobolth, N.4
  • 4
    • 0021831739 scopus 로고
    • Genetic deficiency of medium-chain acyl coenzyme a dehydrogenase: Studies in cultured skin fibroblasts and peripheral mononuclear leukocytes
    • Coates PM, Hale DE, Stanley CA, Corkey BE, Cortner JA. Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res 1985;19:671-676[ISI][Medline] (Pubitemid 15006481)
    • (1985) Pediatric Research , vol.19 , Issue.7 , pp. 671-676
    • Coates, P.M.1    Hale, D.E.2    Stanley, C.A.3
  • 5
    • 0021255778 scopus 로고
    • Deficiency of medium chain fatty acylcoenzyme a dehydrogenase presenting as the sudden infant death syndrome
    • Howat AJ, Bennett MJ, Variend S, Shaw L. Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome. BMJ 1984;288:976.[Free Full Text] (Pubitemid 14115356)
    • (1984) British Medical Journal , vol.288 , Issue.6422 , pp. 976
    • Howat, A.J.1    Bennett, M.J.2    Variend, S.3    Shaw, S.4
  • 6
    • 0036197207 scopus 로고    scopus 로고
    • Fatty acid oxidation disorders
    • DOI 10.1146/annurev.physiol.64.082201.154705
    • Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu Rev Physiol 2002;64:477-502. [CrossRef][ISI][Medline] (Pubitemid 34259237)
    • (2002) Annual Review of Physiology , vol.64 , pp. 477-502
    • Rinaldo, P.1    Matern, D.2    Bennett, M.J.3
  • 7
    • 33646775349 scopus 로고    scopus 로고
    • The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update
    • DOI 10.1097/01.gim.0000204472.25153.8d, PII 0012581720060400000001
    • Grosse SD, Khoury MJ , Greene CL, Crider KS, Pollit RJ.The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update. Genet Med 2006;8:205-212[ISI][Medline] (Pubitemid 43756052)
    • (2006) Genetics in Medicine , vol.8 , Issue.4 , pp. 205-212
    • Grosse, S.D.1    Khoury, M.J.2    Greene, C.L.3    Crider, K.S.4    Pollitt, R.J.5
  • 8
    • 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 JL, 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;43:2106-2113[Abstract/Free Full Text] (Pubitemid 27497809)
    • (1997) Clinical Chemistry , vol.43 , Issue.11 , pp. 2106-2113
    • Chace, D.H.1    Hillman, S.L.2    Van Hove, J.L.K.3    Naylor, E.W.4
  • 9
    • 33747591403 scopus 로고    scopus 로고
    • Newborn screening: Towards a uniform screening panel and system
    • Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR, eds. [ISI][Medline]
    • Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR, eds. Newborn screening: towards a uniform screening panel and system. Genet Med 2006;8:1-252.[ISI][Medline]
    • (2006) Genet Med , vol.8 , pp. 1-252
  • 10
    • 33845897373 scopus 로고    scopus 로고
    • Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: A cohort study
    • DOI 10.1016/S0140-6736(07)60029-4, PII S0140673607600294
    • Wilcken B, Haas M, Joy P, Wiley V, Chaplin M, Black C, et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 2007;369:37-42. [CrossRef][ISI][Medline] (Pubitemid 46027226)
    • (2007) Lancet , vol.369 , Issue.9555 , pp. 37-42
    • Wilcken, B.1    Haas, M.2    Joy, P.3    Wiley, V.4    Chaplin, M.5    Black, C.6    Fletcher, J.7    McGill, J.8    Boneh, A.9
  • 12
    • 84882265405 scopus 로고    scopus 로고
    • House of Lords Science and Technology Committee
    • House of Lords Science and Technology Committee. Genomic medicine. 2008. www.parliament.uk/documents/upload/stGMGovernmentResponse.pdf.
    • (2008) Genomic Medicine
  • 13
    • 51249117945 scopus 로고    scopus 로고
    • Translational research: From evidence-based medicine to sustainable solutions for public health problems
    • [Free Full Text]
    • Lean MEJ, Mann JI, Hoek JA, Elliot RM, Schofield G. Translational research: from evidence-based medicine to sustainable solutions for public health problems. BMJ 2008;337:a863.[Free Full Text]
    • (2008) BMJ , vol.337
    • Lean, M.E.J.1    Mann, J.I.2    Hoek, J.A.3    Elliot, R.M.4    Schofield, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.