메뉴 건너뛰기




Volumn 7, Issue 6, 2011, Pages 761-768

Screening newborns for primary T-cell immunodeficiencies: Consensus and controversy

Author keywords

hematopoietic stem cell transplantation; HSCT; NBS; newborn screening; SCID; severe combined immunodeficiency; T cell lymphopenia; T cell receptor excision circles; TREC

Indexed keywords

EARLY DIAGNOSIS; HUMAN; IMMUNE DEFICIENCY; LYMPHOCYTOPENIA; NEWBORN; NEWBORN DISEASE; NEWBORN SCREENING; REVIEW; SEVERE COMBINED IMMUNODEFICIENCY; T LYMPHOCYTE;

EID: 80054952534     PISSN: 1744666X     EISSN: 17448409     Source Type: Journal    
DOI: 10.1586/eci.11.25     Document Type: Review
Times cited : (9)

References (62)
  • 1
    • 69349101950 scopus 로고    scopus 로고
    • Development of a routine newborn screening protocol for severe combined immunodeficiency
    • Baker MW, Grossman WJ, Laessig RH, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J. Allergy Clin. Immunol. 124(3), 522-527 (2009)
    • (2009) J. Allergy Clin. Immunol. , vol.124 , Issue.3 , pp. 522-527
    • Baker, M.W.1    Grossman, W.J.2    Laessig, R.H.3
  • 2
    • 71549150905 scopus 로고    scopus 로고
    • Statewide newborn screening for severe T-cell lymphopenia
    • Routes JM, Grossman WJ, Verbsky J, et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA 302(22), 2465-2470 (2009)
    • (2009) JAMA , vol.302 , Issue.22 , pp. 2465-2470
    • Routes, J.M.1    Grossman, W.J.2    Verbsky, J.3
  • 3
    • 78049461920 scopus 로고    scopus 로고
    • Identification of an infant with severe combined immunodeficiency by newborn screening
    • Hale JE, Bonilla FA, Pai SY, et al. Identification of an infant with severe combined immunodeficiency by newborn screening. J. Allergy Clin. Immunol. 126(5), 1073-1074 (2010)
    • (2010) J. Allergy Clin. Immunol. , vol.126 , Issue.5 , pp. 1073-1074
    • Hale, J.E.1    Bonilla, F.A.2    Pai, S.Y.3
  • 4
    • 75449123150 scopus 로고
    • A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants
    • Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32, 338-343 (1963)
    • (1963) Pediatrics , vol.32 , pp. 338-343
    • Guthrie, R.1    Susi, A.2
  • 6
    • 68749117770 scopus 로고    scopus 로고
    • A commentary on the President's Council on Bioethics report: The changing moral focus of newborn screening
    • Fleischman AR, Lin BK, Howse JL. A commentary on the President's Council on Bioethics report: the changing moral focus of newborn screening. Genet. Med. 11(7), 507-509 (2009)
    • (2009) Genet. Med. , vol.11 , Issue.7 , pp. 507-509
    • Fleischman, A.R.1    Lin, B.K.2    Howse, J.L.3
  • 7
    • 42049120470 scopus 로고    scopus 로고
    • Revisiting Wilson and Jungner in the genomic age: A review of screening criteria over the past 40 years
    • Andermann A, Blancquaert I, Beauchamp S, Dery V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull. World Health Organ. 86(4), 317-319 (2008)
    • (2008) Bull. World Health Organ. , vol.86 , Issue.4 , pp. 317-319
    • Andermann, A.1    Blancquaert, I.2    Beauchamp, S.3    Dery, V.4
  • 8
    • 33747591403 scopus 로고    scopus 로고
    • Newborn screening: Toward a uniform screening panel and system
    • Newborn screening: toward a uniform screening panel and system. Genet. Med. 8(Suppl. 1), 1S-252S (2006)
    • (2006) Genet. Med. , vol.8 , Issue.SUPPL. 1
  • 9
    • 77950591632 scopus 로고    scopus 로고
    • Guiding policy decisions for genetic screening: Developing a systematic and transparent approach
    • Andermann A, Blancquaert I, Beauchamp S, Costea I. Guiding policy decisions for genetic screening: developing a systematic and transparent approach. Public Health Genomics 14(1), 9-16 (2011)
    • (2011) Public Health Genomics , vol.14 , Issue.1 , pp. 9-16
    • Andermann, A.1    Blancquaert, I.2    Beauchamp, S.3    Costea, I.4
  • 10
    • 77956998380 scopus 로고    scopus 로고
    • Newborn screening programs: Should 22q11 deletion syndrome be added?
    • Bales AM, Zaleski CA, McPherson EW. Newborn screening programs: should 22q11 deletion syndrome be added? Genet. Med. 12(3), 135-144 (2010)
    • (2010) Genet. Med. , vol.12 , Issue.3 , pp. 135-144
    • Bales, A.M.1    Zaleski, C.A.2    McPherson, E.W.3
  • 11
    • 77955295629 scopus 로고    scopus 로고
    • Use of screening dried blood spots for estimation of prevalence, risk factors, and birth outcomes of congenital cytomegalovirus infection
    • Kharrazi M, Hyde T, Young S, Amin MM, Cannon MJ, Dollard SC. Use of screening dried blood spots for estimation of prevalence, risk factors, and birth outcomes of congenital cytomegalovirus infection. J. Pediatr. 157(2), 191-197 (2010)
    • (2010) J. Pediatr. , vol.157 , Issue.2 , pp. 191-197
    • Kharrazi, M.1    Hyde, T.2    Young, S.3    Amin, M.M.4    Cannon, M.J.5    Dollard, S.C.6
  • 12
    • 0033580206 scopus 로고    scopus 로고
    • Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency
    • Buckley RH, Schiff SE, Schiff RI, et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N. Engl. J. Med. 340(7), 508-516 (1999)
    • (1999) N. Engl. J. Med. , vol.340 , Issue.7 , pp. 508-516
    • Buckley, R.H.1    Schiff, S.E.2    Schiff, R.I.3
  • 13
    • 4544366117 scopus 로고    scopus 로고
    • Combined immunodeficiencies
    • Stiehm ER, Ochs HD, Winkelstein JA (Eds). Elsevier, Philadelphia, PA, USA
    • Fischer A, Notarangelo LD. Combined immunodeficiencies. In: Immunologic Disorders in Infants and Children. Stiehm ER, Ochs HD, Winkelstein JA (Eds). Elsevier, Philadelphia, PA, USA, 447 (2004)
    • (2004) Immunologic Disorders in Infants and Children , pp. 447
    • Fischer, A.1    Notarangelo, L.D.2
  • 14
    • 0842327458 scopus 로고    scopus 로고
    • Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review
    • Kalman L, Lindegren ML, Kobrynski L, et al. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genet. Med. 6(1), 16-26 (2004)
    • (2004) Genet. Med. , vol.6 , Issue.1 , pp. 16-26
    • Kalman, L.1    Lindegren, M.L.2    Kobrynski, L.3
  • 15
    • 33749046765 scopus 로고    scopus 로고
    • Newborn screening fact sheets
    • Committee on Genetics
    • Kaye CI, Committee on Genetics, Accurso F, et al. Newborn screening fact sheets. Pediatrics 118(3), e934-e963 (2006)
    • (2006) Pediatrics , vol.118 , Issue.3
    • Kaye, C.I.1    Accurso, F.2
  • 16
    • 1242264767 scopus 로고    scopus 로고
    • Applying public health strategies to primary immunodeficiency diseases: A potential approach to genetic disorders
    • Lindegren ML, Kobrynski L, Rasmussen SA, et al. Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders. MMWR Recomm. Rep. 53(RR-1), 1-29 (2004)
    • (2004) MMWR Recomm. Rep. , vol.53 , Issue.1 , pp. 1-29
    • Lindegren, M.L.1    Kobrynski, L.2    Rasmussen, S.A.3
  • 17
    • 0036464666 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival
    • Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood 99(3), 872-878 (2002)
    • (2002) Blood , vol.99 , Issue.3 , pp. 872-878
    • Myers, L.A.1    Patel, D.D.2    Puck, J.M.3    Buckley, R.H.4
  • 18
    • 0027525387 scopus 로고
    • Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients
    • Stephan JL, Vlekova V, Le Deist F, et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J. Pediatr. 123(4), 564-572 (1993)
    • (1993) J. Pediatr. , vol.123 , Issue.4 , pp. 564-572
    • Stephan, J.L.1    Vlekova, V.2    Le Deist, F.3
  • 19
    • 2542461255 scopus 로고    scopus 로고
    • Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution
    • Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu. Rev. Immunol. 22, 625-655 (2004)
    • (2004) Annu. Rev. Immunol. , vol.22 , pp. 625-655
    • Buckley, R.H.1
  • 20
    • 77955507132 scopus 로고    scopus 로고
    • Why newborn screening for severe combined immunodeficiency is essential: A case report
    • Adeli MM, Buckley RH. Why newborn screening for severe combined immunodeficiency is essential: a case report. Pediatrics 126(2), e465-e469 (2010)
    • (2010) Pediatrics , vol.126 , Issue.2
    • Adeli, M.M.1    Buckley, R.H.2
  • 21
    • 59449101337 scopus 로고    scopus 로고
    • Prevention of rotavirus gastroenteritis among infants and children: Recommendations of the Advisory Committee on Immunization Practices (ACIP)
    • Centers for Disease Control and Prevention (CDC)
    • Cortese MM, Parashar UD, Centers for Disease Control and Prevention (CDC). Prevention of rotavirus gastroenteritis among infants and children: recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Recomm. Rep. 58(RR-2), 1-25 (2009)
    • (2009) MMWR Recomm. Rep. , vol.58 , Issue.2 , pp. 1-25
    • Cortese, M.M.1    Parashar, U.D.2
  • 22
    • 75449116116 scopus 로고    scopus 로고
    • Vaccine-acquired rotavirus in infants with severe combined immunodeficiency
    • Patel NC, Hertel PM, Estes MK, et al. Vaccine-acquired rotavirus in infants with severe combined immunodeficiency. N. Engl. J. Med. 362(4), 314-319 (2010)
    • (2010) N. Engl. J. Med. , vol.362 , Issue.4 , pp. 314-319
    • Patel, N.C.1    Hertel, P.M.2    Estes, M.K.3
  • 24
    • 73149111767 scopus 로고    scopus 로고
    • Persistent rotavirus vaccine shedding in a new case of severe combined immunodeficiency: A reason to screen
    • Uygungil B, Bleesing JJ, Risma KA, McNeal MM, Rothenberg ME. Persistent rotavirus vaccine shedding in a new case of severe combined immunodeficiency: a reason to screen. J. Allergy Clin. Immunol. 125(1), 270-271 (2010)
    • (2010) J. Allergy Clin. Immunol. , vol.125 , Issue.1 , pp. 270-271
    • Uygungil, B.1    Bleesing, J.J.2    Risma, K.A.3    McNeal, M.M.4    Rothenberg, M.E.5
  • 25
    • 26044474889 scopus 로고    scopus 로고
    • Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID)
    • Chan B, Wara D, Bastian J, et al. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin. Immunol. 117(2), 133-143 (2005)
    • (2005) Clin. Immunol. , vol.117 , Issue.2 , pp. 133-143
    • Chan, B.1    Wara, D.2    Bastian, J.3
  • 26
    • 59449098985 scopus 로고    scopus 로고
    • Gene therapy for immunodeficiency due to adenosine deaminase deficiency
    • Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N. Engl. J. Med. 360(5), 447-458 (2009)
    • (2009) N. Engl. J. Med. , vol.360 , Issue.5 , pp. 447-458
    • Aiuti, A.1    Cattaneo, F.2    Galimberti, S.3
  • 27
    • 77954833516 scopus 로고    scopus 로고
    • Efficacy of gene therapy for X-linked severe combined immunodeficiency
    • Hacein-Bey-Abina S, Hauer J, Lim A, et al. Efficacy of gene therapy for X-linked severe combined immunodeficiency. N. Engl. J. Med. 363(4), 355-364 (2010)
    • (2010) N. Engl. J. Med. , vol.363 , Issue.4 , pp. 355-364
    • Hacein-Bey-Abina, S.1    Hauer, J.2    Lim, A.3
  • 28
    • 51349090473 scopus 로고    scopus 로고
    • Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1
    • Hacein-Bey-Abina S, Garrigue A, Wang GP, et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J. Clin. Invest. 118(9), 3132-3142 (2008)
    • (2008) J. Clin. Invest. , vol.118 , Issue.9 , pp. 3132-3142
    • Hacein-Bey-Abina, S.1    Garrigue, A.2    Wang, G.P.3
  • 29
    • 0037129435 scopus 로고    scopus 로고
    • Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy
    • Hacein-Bey-Abina S, Le Deist F, Carlier F, et al. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N. Engl. J. Med. 346(16), 1185-1193 (2002)
    • (2002) N. Engl. J. Med. , vol.346 , Issue.16 , pp. 1185-1193
    • Hacein-Bey-Abina, S.1    Le Deist, F.2    Carlier, F.3
  • 30
    • 35948933873 scopus 로고    scopus 로고
    • Neonatal screening for severe combined immune deficiency
    • Puck JM. Neonatal screening for severe combined immune deficiency. Curr. Opin. Allergy Clin. Immunol. 7(6), 522-527 (2007)
    • (2007) Curr. Opin. Allergy Clin. Immunol. , vol.7 , Issue.6 , pp. 522-527
    • Puck, J.M.1
  • 31
    • 77951778042 scopus 로고    scopus 로고
    • Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency
    • Lipstein EA, Vorono S, Browning MF, et al. Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency. Pediatrics 125(5), e1226-e1235 (2010)
    • (2010) Pediatrics , vol.125 , Issue.5
    • Lipstein, E.A.1    Vorono, S.2    Browning, M.F.3
  • 32
    • 34948870078 scopus 로고    scopus 로고
    • Population-based newborn screening for severe combined immunodeficiency: Steps toward implementation
    • SCID Newborn Screening Working Group
    • Puck JM. SCID Newborn Screening Working Group. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. J. Allergy Clin. Immunol. 120(4), 760-768 (2007)
    • (2007) J. Allergy Clin. Immunol. , vol.120 , Issue.4 , pp. 760-768
    • Puck, J.M.1
  • 33
    • 13444301418 scopus 로고    scopus 로고
    • Development of population-based newborn screening for severe combined immunodeficiency
    • Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J. Allergy Clin. Immunol. 115(2), 391-398 (2005)
    • (2005) J. Allergy Clin. Immunol. , vol.115 , Issue.2 , pp. 391-398
    • Chan, K.1    Puck, J.M.2
  • 34
    • 0031870708 scopus 로고    scopus 로고
    • Lymphocyte subsets in cord blood of preterm infants: Effect of antenatal steroids
    • Chabra S, Cottrill C, Rayens MK, Cross R, Lipke D, Bruce M. Lymphocyte subsets in cord blood of preterm infants: effect of antenatal steroids. Biol. Neonate 74(3), 200-207 (1998)
    • (1998) Biol. Neonate , vol.74 , Issue.3 , pp. 200-207
    • Chabra, S.1    Cottrill, C.2    Rayens, M.K.3    Cross, R.4    Lipke, D.5    Bruce, M.6
  • 36
    • 0034720664 scopus 로고    scopus 로고
    • Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution
    • Douek DC, Vescio RA, Betts MR, et al. Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Lancet 355(9218), 1875-1881 (2000)
    • (2000) Lancet , vol.355 , Issue.9218 , pp. 1875-1881
    • Douek, D.C.1    Vescio, R.A.2    Betts, M.R.3
  • 37
    • 71549170927 scopus 로고    scopus 로고
    • Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards
    • Morinishi Y, Imai K, Nakagawa N, et al. Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J. Pediatr. 155(6), 829-833 (2009)
    • (2009) J. Pediatr. , vol.155 , Issue.6 , pp. 829-833
    • Morinishi, Y.1    Imai, K.2    Nakagawa, N.3
  • 38
    • 27744515099 scopus 로고    scopus 로고
    • Potential costs and benefits of newborn screening for severe combined immunodeficiency
    • McGhee SA, Stiehm ER, McCabe ER. Potential costs and benefits of newborn screening for severe combined immunodeficiency. J. Pediatr. 147(5), 603-608 (2005)
    • (2005) J. Pediatr. , vol.147 , Issue.5 , pp. 603-608
    • McGhee, S.A.1    Stiehm, E.R.2    McCabe, E.R.3
  • 39
    • 79551486262 scopus 로고    scopus 로고
    • Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia
    • e1-e2
    • Accetta D, Syverson G, Bonacci B, et al. Human phagocyte defect caused by a Rac2 mutation detected by means of neonatal screening for T-cell lymphopenia. J. Allergy Clin. Immunol. 127(2), 535-538, e1-e2 (2011)
    • (2011) J. Allergy Clin. Immunol. , vol.127 , Issue.2 , pp. 535-538
    • Accetta, D.1    Syverson, G.2    Bonacci, B.3
  • 40
    • 12944284786 scopus 로고    scopus 로고
    • Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation
    • Ambruso DR, Knall C, Abell AN, et al. Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc. Natl Acad. Sci. USA 97(9), 4654-4659 (2000)
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , Issue.9 , pp. 4654-4659
    • Ambruso, D.R.1    Knall, C.2    Abell, A.N.3
  • 41
    • 77954381946 scopus 로고    scopus 로고
    • Duarte galactosemia: How sweet is it?
    • Fernhoff PM. Duarte galactosemia: how sweet is it? Clin. Chem. 56(7), 1045-1046 (2010)
    • (2010) Clin. Chem. , vol.56 , Issue.7 , pp. 1045-1046
    • Fernhoff, P.M.1
  • 42
    • 0037442176 scopus 로고    scopus 로고
    • Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: Report of the European experience 1968-1999
    • Antoine C, Muller S, Cant A, et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-1999. Lancet 361(9357), 553-560 (2003)
    • (2003) Lancet , vol.361 , Issue.9357 , pp. 553-560
    • Antoine, C.1    Muller, S.2    Cant, A.3
  • 43
    • 77950228135 scopus 로고    scopus 로고
    • Hospital volume and 30-day mortality for three common medical conditions
    • Ross JS, Normand SL, Wang Y, et al. Hospital volume and 30-day mortality for three common medical conditions. N. Engl. J. Med. 362(12), 1110-1118 (2010)
    • (2010) N. Engl. J. Med. , vol.362 , Issue.12 , pp. 1110-1118
    • Ross, J.S.1    Normand, S.L.2    Wang, Y.3
  • 44
    • 0037153027 scopus 로고    scopus 로고
    • Specialty of ambulatory care physicians and mortality among elderly patients after myocardial infarction
    • Ayanian JZ, Landrum MB, Guadagnoli E, Gaccione P. Specialty of ambulatory care physicians and mortality among elderly patients after myocardial infarction. N. Engl. J. Med. 347(21), 1678-1686 (2002)
    • (2002) N. Engl. J. Med. , vol.347 , Issue.21 , pp. 1678-1686
    • Ayanian, J.Z.1    Landrum, M.B.2    Guadagnoli, E.3    Gaccione, P.4
  • 45
    • 0037061912 scopus 로고    scopus 로고
    • Hospital volume and surgical mortality in the United States
    • Birkmeyer JD, Siewers AE, Finlayson EV, et al. Hospital volume and surgical mortality in the United States. N. Engl. J. Med. 346(15), 1128-1137 (2002)
    • (2002) N. Engl. J. Med. , vol.346 , Issue.15 , pp. 1128-1137
    • Birkmeyer, J.D.1    Siewers, A.E.2    Finlayson, E.V.3
  • 46
    • 0035958346 scopus 로고    scopus 로고
    • Relationship between annual volume of patients treated by admitting physician and mortality after acute myocardial infarction
    • Tu JV, Austin PC, Chan BT. Relationship between annual volume of patients treated by admitting physician and mortality after acute myocardial infarction. JAMA 285(24), 3116-3122 (2001)
    • (2001) JAMA , vol.285 , Issue.24 , pp. 3116-3122
    • Tu, J.V.1    Austin, P.C.2    Chan, B.T.3
  • 47
    • 0032191373 scopus 로고    scopus 로고
    • Patients treated by cardiologists have a lower in-hospital mortality for acute myocardial infarction
    • Casale PN, Jones JL, Wolf FE, Pei Y, Eby LM. Patients treated by cardiologists have a lower in-hospital mortality for acute myocardial infarction. J. Am. Coll. Cardiol. 32(4), 885-889 (1998)
    • (1998) J. Am. Coll. Cardiol. , vol.32 , Issue.4 , pp. 885-889
    • Casale, P.N.1    Jones, J.L.2    Wolf, F.E.3    Pei, Y.4    Eby, L.M.5
  • 48
    • 76149089215 scopus 로고    scopus 로고
    • Currents in contemporary ethics: The role of parents in expanded newborn screening
    • Harrell H. Currents in contemporary ethics: the role of parents in expanded newborn screening. J. Law Med. Ethics 37(4), 846-851 (2009)
    • (2009) J. Law Med. Ethics , vol.37 , Issue.4 , pp. 846-851
    • Harrell, H.1
  • 49
    • 0035674957 scopus 로고    scopus 로고
    • A public health response to emerging technology: Expansion of the Massachusetts newborn screening program
    • Atkinson K, Zuckerman B, Sharfstein JM, Levin D, Blatt RJ, Koh HK. A public health response to emerging technology: expansion of the Massachusetts newborn screening program. Public Health Rep. 116(2), 122-131 (2001)
    • (2001) Public Health Rep. , vol.116 , Issue.2 , pp. 122-131
    • Atkinson, K.1    Zuckerman, B.2    Sharfstein, J.M.3    Levin, D.4    Blatt, R.J.5    Koh, H.K.6
  • 50
    • 77957703237 scopus 로고    scopus 로고
    • Parents' decision-making in newborn screening: Opinions, choices, and information needs
    • Lipstein EA, Nabi E, Perrin JM, Luff D, Browning MF, Kuhlthau KA. Parents' decision-making in newborn screening: opinions, choices, and information needs. Pediatrics 126(4), 696-704 (2010)
    • (2010) Pediatrics , vol.126 , Issue.4 , pp. 696-704
    • Lipstein, E.A.1    Nabi, E.2    Perrin, J.M.3    Luff, D.4    Browning, M.F.5    Kuhlthau, K.A.6
  • 51
    • 64849093360 scopus 로고    scopus 로고
    • Newborn blood collections. Science gold mine, ethical minefield
    • Couzin-Frankel J. Newborn blood collections. Science gold mine, ethical minefield. Science 324(5924), 166-168 (2009)
    • (2009) Science , vol.324 , Issue.5924 , pp. 166-168
    • Couzin-Frankel, J.1
  • 52
    • 0036164288 scopus 로고    scopus 로고
    • Newborn screening program practices in the United States: Notification, research, and consent
    • Mandl KD, Feit S, Larson C, Kohane IS. Newborn screening program practices in the United States: notification, research, and consent. Pediatrics 109(2), 269-273 (2002)
    • (2002) Pediatrics , vol.109 , Issue.2 , pp. 269-273
    • Mandl, K.D.1    Feit, S.2    Larson, C.3    Kohane, I.S.4
  • 53
    • 77349115482 scopus 로고    scopus 로고
    • Not without my permission: Parents' willingness to permit use of newborn screening samples for research
    • Tarini BA, Goldenberg A, Singer D, Clark SJ, Butchart A, Davis MM. Not without my permission: parents' willingness to permit use of newborn screening samples for research. Public Health Genomics 13(3), 125-130 (2010)
    • (2010) Public Health Genomics , vol.13 , Issue.3 , pp. 125-130
    • Tarini, B.A.1    Goldenberg, A.2    Singer, D.3    Clark, S.J.4    Butchart, A.5    Davis, M.M.6
  • 54
    • 80054886570 scopus 로고    scopus 로고
    • Blood feud: Controversy arises over newborn screening program
    • Ortolon K. Blood feud: controversy arises over newborn screening program. Tex. Med. 105(7), 47-49 (2009)
    • (2009) Tex. Med. , vol.105 , Issue.7 , pp. 47-49
    • Ortolon, K.1
  • 55
    • 63449083689 scopus 로고    scopus 로고
    • Developing a National Registry for conditions identifiable through newborn screening
    • Botkin JR, Anderson R, Staes C, Longo N. Developing a National Registry for conditions identifiable through newborn screening. Genet. Med. 11(3), 176-182 (2009)
    • (2009) Genet. Med. , vol.11 , Issue.3 , pp. 176-182
    • Botkin, J.R.1    Anderson, R.2    Staes, C.3    Longo, N.4
  • 56
    • 77957122165 scopus 로고    scopus 로고
    • Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease
    • Tomita-Mitchell A, Mahnke DK, Larson JM, et al. Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol. Genomics 42A(1), 52-60 (2010)
    • (2010) Physiol. Genomics , vol.42 A , Issue.1 , pp. 52-60
    • Tomita-Mitchell, A.1    Mahnke, D.K.2    Larson, J.M.3
  • 57
    • 70349260949 scopus 로고    scopus 로고
    • Parents' interest in predictive genetic testing for their children when a disease has no treatment
    • Tarini BA, Singer D, Clark SJ, Davis MM. Parents' interest in predictive genetic testing for their children when a disease has no treatment. Pediatrics 124(3), e432-e438 (2009)
    • (2009) Pediatrics , vol.124 , Issue.3
    • Tarini, B.A.1    Singer, D.2    Clark, S.J.3    Davis, M.M.4
  • 58
    • 77954315400 scopus 로고    scopus 로고
    • Simultaneous quantification of recent thymic T-cell and bone marrow B-cell emigrants in patients with primary immunodeficiency undergone to stem cell transplantation
    • Sottini A, Ghidini C, Zanotti C, et al. Simultaneous quantification of recent thymic T-cell and bone marrow B-cell emigrants in patients with primary immunodeficiency undergone to stem cell transplantation. Clin. Immunol. 136(2), 217-227 (2010)
    • (2010) Clin. Immunol. , vol.136 , Issue.2 , pp. 217-227
    • Sottini, A.1    Ghidini, C.2    Zanotti, C.3
  • 59
    • 0042855876 scopus 로고    scopus 로고
    • Ethical, legal, and social implications of genomic medicine
    • Clayton EW. Ethical, legal, and social implications of genomic medicine. N. Engl. J. Med. 349(6), 562-569 (2003)
    • (2003) N. Engl. J. Med. , vol.349 , Issue.6 , pp. 562-569
    • Clayton, E.W.1
  • 60
    • 84857501759 scopus 로고    scopus 로고
    • Secretary of Health and Human Services announces addition of SCID to national newborn screening standards
    • Secretary of Health and Human Services announces addition of SCID to national newborn screening standards www.primaryimmune.org/admin-content/ admin-files/SCID-INCLUDED-IN- NEWBORN-SCREENINGnew.pdf
  • 61
    • 84857500093 scopus 로고    scopus 로고
    • Nominate a condition
    • Nominate a condition www.hrsa.gov/advisorycommittees/ mchbadvisory/heritabledisorders/ nominatecondition/index.html
  • 62
    • 84857504482 scopus 로고    scopus 로고
    • 'Big Brother' and the growing controversy surrounding newborn dried blood spots
    • Turner L. 'Big Brother' and the growing controversy surrounding newborn dried blood spots. ABA Health eSource (2010) www.abanet.org/health/esource/ Volume7/02/turner.html
    • (2010) ABA Health ESource
    • Turner, L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.