메뉴 건너뛰기




Volumn 50, Issue 7, 2015, Pages 655-664

Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany

Author keywords

biochemical screening; Cystic fibrosis; immunoreactive trypsinogen; newborn screening; pancreatitis associated protein

Indexed keywords

CHLORIDE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; IMMUNOREACTIVE TRYPSINOGEN; PANCREATITIS ASSOCIATED PROTEIN; TRYPSINOGEN; UNCLASSIFIED DRUG; BIOLOGICAL MARKER; LECTIN; PANCREATITIS-ASSOCIATED PROTEIN; TUMOR ANTIGEN; TUMOR MARKER;

EID: 84947046615     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.23190     Document Type: Article
Times cited : (63)

References (31)
  • 4
    • 47049095800 scopus 로고    scopus 로고
    • Implementation of the French nationwide cystic fibrosis newborn screening program
    • Munck A, Dhondt JL, Sahler C, Roussey M,. Implementation of the French nationwide cystic fibrosis newborn screening program. J Pediatr 2008; 153: 228-233.
    • (2008) J Pediatr , vol.153 , pp. 228-233
    • Munck, A.1    Dhondt, J.L.2    Sahler, C.3    Roussey, M.4
  • 5
    • 49349101590 scopus 로고    scopus 로고
    • Newborn screening for cystic fibrosis: A lesson in public health disparities
    • Ross LF,. Newborn screening for cystic fibrosis: a lesson in public health disparities. J Pediatr 2008; 153: 308-313.
    • (2008) J Pediatr , vol.153 , pp. 308-313
    • Ross, L.F.1
  • 6
    • 25144480567 scopus 로고    scopus 로고
    • Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis
    • Sarles J, Berthezene P, Le LC, Somma C, Perini JM, Catheline M, Mirallie S, Luzet K, Roussey M, Farriaux JP, et al., Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis. J Pediatr 2005; 147: 302-305.
    • (2005) J Pediatr , vol.147 , pp. 302-305
    • Sarles, J.1    Berthezene, P.2    Le, L.C.3    Somma, C.4    Perini, J.M.5    Catheline, M.6    Mirallie, S.7    Luzet, K.8    Roussey, M.9    Farriaux, J.P.10
  • 8
    • 79952201871 scopus 로고    scopus 로고
    • Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population
    • Sommerburg O, Lindner M, Muckenthaler M, Kohlmueller D, Leible S, Feneberg R, Kulozik AE, Mall MA, Hoffmann GF,. Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population. J Inherit Metab Dis 2010; 33: S263-S271.
    • (2010) J Inherit Metab Dis , vol.33 , pp. S263-S271
    • Sommerburg, O.1    Lindner, M.2    Muckenthaler, M.3    Kohlmueller, D.4    Leible, S.5    Feneberg, R.6    Kulozik, A.E.7    Mall, M.A.8    Hoffmann, G.F.9
  • 11
    • 84890433754 scopus 로고    scopus 로고
    • Newborn screening for cystic fibrosis with an IRT-PAP protocol
    • Hammermann J, Mense L, Stopsack M,. Newborn screening for cystic fibrosis with an IRT-PAP protocol. J Cyst Fibrosis 2011; 11: S47.
    • (2011) J Cyst Fibrosis , vol.11 , pp. S47
    • Hammermann, J.1    Mense, L.2    Stopsack, M.3
  • 14
    • 0023901337 scopus 로고
    • Newborn screening for cystic fibrosis using an enzyme linked immunoabsorbent assay (ELISA) technique
    • Bowling FG, Brown AR,. Newborn screening for cystic fibrosis using an enzyme linked immunoabsorbent assay (ELISA) technique. Clin Chim Acta 1988; 171: 257-261.
    • (1988) Clin Chim Acta , vol.171 , pp. 257-261
    • Bowling, F.G.1    Brown, A.R.2
  • 16
    • 0027527564 scopus 로고
    • Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): Comparison of screening protocols
    • Gregg RG, Wilfond BS, Farrell PM, Laxova A, Hassemer D, Mischler EH,. Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols. Am J Hum Genet 1993; 52: 616-626.
    • (1993) Am J Hum Genet , vol.52 , pp. 616-626
    • Gregg, R.G.1    Wilfond, B.S.2    Farrell, P.M.3    Laxova, A.4    Hassemer, D.5    Mischler, E.H.6
  • 17
    • 0027310185 scopus 로고
    • Neonatal screening for cystic fibrosis: Addition of molecular diagnostics to increase specificity
    • Spence WC, Paulus-Thomas J, Orenstein DM, Naylor EW,. Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity. Biochem Med Metab Biol 1993; 49: 200-211.
    • (1993) Biochem Med Metab Biol , vol.49 , pp. 200-211
    • Spence, W.C.1    Paulus-Thomas, J.2    Orenstein, D.M.3    Naylor, E.W.4
  • 18
    • 9244225677 scopus 로고
    • A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis
    • Gibson LE, Cooke RE,. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 1959; 23: 545-549.
    • (1959) Pediatrics , vol.23 , pp. 545-549
    • Gibson, L.E.1    Cooke, R.E.2
  • 19
    • 33846519264 scopus 로고    scopus 로고
    • Guidelines for the performance of the sweat test for the diagnosis of cystic fibrosis
    • Green A, Kirk J,. Guidelines for the performance of the sweat test for the diagnosis of cystic fibrosis. Ann Clin Biochem 2007; 44: 25-34.
    • (2007) Ann Clin Biochem , vol.44 , pp. 25-34
    • Green, A.1    Kirk, J.2
  • 22
    • 84939554416 scopus 로고    scopus 로고
    • DTComPair: Comparison of binary diagnostic tests in a paired study design
    • Stock C, Hielscher T,. DTComPair: comparison of binary diagnostic tests in a paired study design. R package version 1.00. 2013.
    • (2013) R Package Version 1.00.
    • Stock, C.1    Hielscher, T.2
  • 23
    • 57649155710 scopus 로고    scopus 로고
    • A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis
    • Mayell SJ, Munck A, Craig JV, Sermet I, Brownlee KG, Schwarz MJ, Castellani C, Southern KW,. A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros 2009; 8: 71-78.
    • (2009) J Cyst Fibros , vol.8 , pp. 71-78
    • Mayell, S.J.1    Munck, A.2    Craig, J.V.3    Sermet, I.4    Brownlee, K.G.5    Schwarz, M.J.6    Castellani, C.7    Southern, K.W.8
  • 24
    • 0034894085 scopus 로고    scopus 로고
    • Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C
    • Massie RJ, Poplawski N, Wilcken B, Goldblatt J, Byrnes C, Robertson C,. Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. Eur Respir J 2001; 17: 1195-1200.
    • (2001) Eur Respir J , vol.17 , pp. 1195-1200
    • Massie, R.J.1    Poplawski, N.2    Wilcken, B.3    Goldblatt, J.4    Byrnes, C.5    Robertson, C.6
  • 29
  • 30
    • 0942285246 scopus 로고    scopus 로고
    • Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: A cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections
    • Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, et al., Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics 2004; 113: 1573-1581.
    • (2004) Pediatrics , vol.113 , pp. 1573-1581
    • Comeau, A.M.1    Parad, R.B.2    Dorkin, H.L.3    Dovey, M.4    Gerstle, R.5    Haver, K.6    Lapey, A.7    O'Sullivan, B.P.8    Waltz, D.A.9    Zwerdling, R.G.10
  • 31
    • 79958244519 scopus 로고    scopus 로고
    • Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening
    • Baker MW, Groose M, Hoffman G, Rock M, Levy H, Farrel PM,. Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening. J Cyst Fibros 2011; 10: 278-281.
    • (2011) J Cyst Fibros , vol.10 , pp. 278-281
    • Baker, M.W.1    Groose, M.2    Hoffman, G.3    Rock, M.4    Levy, H.5    Farrel, P.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.