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Volumn 34, Issue 2, 2012, Pages 208-220

Expanded newborn screening: Articulating the ontology of diseases with bridging work in the clinic

Author keywords

Ethnography; Genetics; Medical technologies; Screening; Uncertainty

Indexed keywords

ARTICLE; GENETIC SCREENING; GENETICS; HUMAN; KNOWLEDGE; METABOLIC DISORDER; METHODOLOGY; NEWBORN; NEWBORN SCREENING; SECONDARY PREVENTION; TIME; UNCERTAINTY; UNITED STATES;

EID: 84857501483     PISSN: 01419889     EISSN: 14679566     Source Type: Journal    
DOI: 10.1111/j.1467-9566.2011.01398.x     Document Type: Article
Times cited : (30)

References (35)
  • 2
    • 0034985656 scopus 로고    scopus 로고
    • Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
    • Andresen, B.S., Dobrowolski, S.F., O'Reilly, L., Muenzer, J., McCandless, S.E., et al. (2001) Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency, American Journal of Human Genetics, 68, 6, 1408-18.
    • (2001) American Journal of Human Genetics , vol.68 , Issue.6 , pp. 1408-1418
    • Andresen, B.S.1    Dobrowolski, S.F.2    O'Reilly, L.3    Muenzer, J.4    McCandless, S.E.5
  • 3
    • 0018374424 scopus 로고
    • Child development and medical ontology
    • Armstrong, D. (1979) Child development and medical ontology, Social Science and Medicine, 13, 1, 9-12.
    • (1979) Social Science and Medicine , vol.13 , Issue.1 , pp. 9-12
    • Armstrong, D.1
  • 4
    • 44349163938 scopus 로고    scopus 로고
    • Framing disease: an underappreciated mechanism for the social patterning of health
    • Aronowitz, R.A. (2008) Framing disease: an underappreciated mechanism for the social patterning of health, Social Science and Medicine, 67, 1, 1-9.
    • (2008) Social Science and Medicine , vol.67 , Issue.1 , pp. 1-9
    • Aronowitz, R.A.1
  • 6
    • 78651289152 scopus 로고    scopus 로고
    • Medical technologies and the dream of the perfect newborn
    • Buchbinder, M. and Timmermans, S. (2011) Medical technologies and the dream of the perfect newborn, Medical Anthropology, 30, 1, 56-80.
    • (2011) Medical Anthropology , vol.30 , Issue.1 , pp. 56-80
    • Buchbinder, M.1    Timmermans, S.2
  • 8
    • 63049130432 scopus 로고    scopus 로고
    • Baltimore: Johns Hopkins University Press
    • Greene, J.A. (2007) Prescribing by Numbers. Baltimore: Johns Hopkins University Press.
    • (2007) Prescribing by Numbers
    • Greene, J.A.1
  • 9
    • 0027331543 scopus 로고
    • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe
    • Gregersen, N., Winter, V., Curtis, D., Deufel, T., et al. (1993) Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe, Human Heredity, 43, 6, 342-50.
    • (1993) Human Heredity , vol.43 , Issue.6 , pp. 342-350
    • Gregersen, N.1    Winter, V.2    Curtis, D.3    Deufel, T.4
  • 11
    • 0028265830 scopus 로고
    • Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
    • Iafolla, A.K., Thompson, R.J. and Roe, C.R. (1994) Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children, Journal of Pediatrics, 124, 3, 409-15.
    • (1994) Journal of Pediatrics , vol.124 , Issue.3 , pp. 409-415
    • Iafolla, A.K.1    Thompson, R.J.2    Roe, C.R.3
  • 12
    • 29144520886 scopus 로고    scopus 로고
    • Understanding genetic disease in a socio-historical context: A case study of cystic fibrosis
    • Kerr, A. (2005) Understanding genetic disease in a socio-historical context: A case study of cystic fibrosis, Sociology of Health and Illness, 27, 7, 873-96.
    • (2005) Sociology of Health and Illness , vol.27 , Issue.7 , pp. 873-896
    • Kerr, A.1
  • 16
    • 33747122587 scopus 로고    scopus 로고
    • Rebirthing the clinic: the interaction of clinical judgment and genetic technology in the production of medical science
    • Latimer, J., Featherstone, K., Atkinson, P., Clarke, A., et al. (2006) Rebirthing the clinic: the interaction of clinical judgment and genetic technology in the production of medical science, Science, Technology, and Human Values, 31, 5, 599-630.
    • (2006) Science, Technology, and Human Values , vol.31 , Issue.5 , pp. 599-630
    • Latimer, J.1    Featherstone, K.2    Atkinson, P.3    Clarke, A.4
  • 17
    • 21044445898 scopus 로고    scopus 로고
    • Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency
    • Maier, E.M., Liebl, B., Roschinger, W., Nennstiel-Ratzel, U., et al. (2005) Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency, Human Mutation, 25, 5, 443-52.
    • (2005) Human Mutation , vol.25 , Issue.5 , pp. 443-452
    • Maier, E.M.1    Liebl, B.2    Roschinger, W.3    Nennstiel-Ratzel, U.4
  • 20
    • 70349739144 scopus 로고    scopus 로고
    • Staging and weighting evidence in biomedicine: comparing clinical practices in cancer genetics and psychiatric genetics
    • Rabeharisoa, V. and Bourret, P. (2009) Staging and weighting evidence in biomedicine: comparing clinical practices in cancer genetics and psychiatric genetics, Social Studies of Science, 39, 5, 691-715.
    • (2009) Social Studies of Science , vol.39 , Issue.5 , pp. 691-715
    • Rabeharisoa, V.1    Bourret, P.2
  • 24
    • 77953020257 scopus 로고    scopus 로고
    • Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5years of ACADM sequencing
    • Smith, E.H., Thomas, C., McHugh, D., Gavrilov, D., et al. (2010) Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5years of ACADM sequencing, Molecular Genetics and Metabolism, 100, 3, 241-50.
    • (2010) Molecular Genetics and Metabolism , vol.100 , Issue.3 , pp. 241-250
    • Smith, E.H.1    Thomas, C.2    McHugh, D.3    Gavrilov, D.4
  • 25
    • 0003486987 scopus 로고
    • Albany: State University of New York Press
    • Star, S.L. (1995) Ecologies of Knowledge. Albany: State University of New York Press.
    • (1995) Ecologies of Knowledge
    • Star, S.L.1
  • 27
    • 0037791679 scopus 로고    scopus 로고
    • The practice of medical technology
    • Silver Anniversary Issue
    • Timmermans, S. and Berg, M. (2003b) The practice of medical technology, Sociology of Health and Illness, 25, Silver Anniversary Issue, 97-114.
    • (2003) Sociology of Health and Illness , vol.25 , pp. 97-114
    • Timmermans, S.1    Berg, M.2
  • 28
    • 78650364502 scopus 로고    scopus 로고
    • Patients-in-waiting: living between sickness and health in the genomics era
    • Timmermans, S. and Buchbinder, M. (2010) Patients-in-waiting: living between sickness and health in the genomics era, Journal of Health and Social Behavior, 51, 4, 408-23.
    • (2010) Journal of Health and Social Behavior , vol.51 , Issue.4 , pp. 408-423
    • Timmermans, S.1    Buchbinder, M.2
  • 29
    • 56049091434 scopus 로고    scopus 로고
    • Advancing ethnographic research through grounded theory practice
    • Bryant, A. and Charmaz, K. (eds). London: Sage
    • Timmermans, S. and Tavory, I. (2007) Advancing ethnographic research through grounded theory practice. In Bryant, A. and Charmaz, K. (eds) Handbook of Grounded Theory. London: Sage.
    • (2007) Handbook of Grounded Theory
    • Timmermans, S.1    Tavory, I.2
  • 30
    • 29344452147 scopus 로고    scopus 로고
    • Medium-chain acyl-COA dehydrogenase deficiency: Genotype-biochemical phenotype correlations
    • Waddell, L., Wiley, V., Capenter, K., Bennetts, B., et al. (2006) Medium-chain acyl-COA dehydrogenase deficiency: Genotype-biochemical phenotype correlations, Molecular Genetics and Metabolism, 87, 32-9.
    • (2006) Molecular Genetics and Metabolism , vol.87 , pp. 32-39
    • Waddell, L.1    Wiley, V.2    Capenter, K.3    Bennetts, B.4
  • 33
    • 77957587770 scopus 로고    scopus 로고
    • Fatty acid oxydation disorders: outcome and long-term prognosis
    • Wilcken, B. (2010) Fatty acid oxydation disorders: outcome and long-term prognosis, Journal of Inherited Metabolic Disease, 33, 5, 501-6.
    • (2010) Journal of Inherited Metabolic Disease , vol.33 , Issue.5 , pp. 501-506
    • Wilcken, B.1
  • 35
    • 77955662748 scopus 로고    scopus 로고
    • Sudden death in medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD) despite newborn screening
    • Yusopov, R., Finegold, D.N., Naylor, E.W., Sahai, I., et al. (2010) Sudden death in medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD) despite newborn screening, Molecular Genetics and Metabolism, 101, 1, 33-9.
    • (2010) Molecular Genetics and Metabolism , vol.101 , Issue.1 , pp. 33-39
    • Yusopov, R.1    Finegold, D.N.2    Naylor, E.W.3    Sahai, I.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.