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Volumn 58, Issue 3, 2000, Pages 267-276

The fabulous story of neonatal screening;La fabuleuse histoire du depistage neonatal

Author keywords

Congenital adrenal hyperplasia; Congenital hypothyroidism; Neonatal screening; Phenylketonuria

Indexed keywords

ADRENAL HYPERPLASIA; CONGENITAL HYPOTHYROIDISM; CYSTIC FIBROSIS; ENDOCRINE DISEASE; ETHICS; HISTORY; HUMAN; LABORATORY; MASS SCREENING; MASS SPECTROMETRY; METABOLIC DISORDER; METHODOLOGY; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA; REVIEW; ART; ARTICLE;

EID: 0034047515     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (11)

References (16)
  • 1
    • 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 1963 ; 32 : 338.
    • (1963) Pediatrics , vol.32 , pp. 338
    • Guthrie, R.1    Susi, A.2
  • 2
    • 84941432771 scopus 로고
    • Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stofwechselanomalie in Verbindung mit Imbezillität
    • Folling A. Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stofwechselanomalie in Verbindung mit Imbezillität. Hoppe-Seylers Ztschr Physiol Chem 1934 ; 227 : 169-76.
    • (1934) Hoppe-Seylers Ztschr Physiol Chem , vol.227 , pp. 169-176
    • Folling, A.1
  • 3
    • 50449135748 scopus 로고
    • Influence of phenylalanine intake on phenylketonuria
    • Bickel H. Gerrard J, Hickmans EM. Influence of phenylalanine intake on phenylketonuria. Lancet 1953 ; 2 : 812-3.
    • (1953) Lancet , vol.2 , pp. 812-813
    • Bickel, H.1    Gerrard, J.2    Hickmans, E.M.3
  • 4
    • 0021261657 scopus 로고
    • Tetrahydrobiopterin deficiencies : Preliminary analysis from an international survey
    • Dhondt JL. Tetrahydrobiopterin deficiencies : preliminary analysis from an international survey. J Pediatr 1984 ; 104 : 501-8.
    • (1984) J Pediatr , vol.104 , pp. 501-508
    • Dhondt, J.L.1
  • 5
    • 0342997608 scopus 로고
    • Phénylcétonurie maternelle et nouveau-né de mère phénylcétonurique
    • Saudubray JM. Paris : Doin
    • Farriaux JP, Largillière C, Dhondt JL. Phénylcétonurie maternelle et nouveau-né de mère phénylcétonurique. In : Saudubray JM. Maladies métaboliques. Paris : Doin, 1991 : 141-9.
    • (1991) Maladies Métaboliques , pp. 141-149
    • Farriaux, J.P.1    Largillière, C.2    Dhondt, J.L.3
  • 6
    • 0015808415 scopus 로고
    • Dosage de la thyroxine (T4) par méthode radio-immunologique dans l'éluat de sang séché : Nouvelle méthode de dépistage de l'hypothyroïdie néonatal ?
    • Dussault JH, Laberge C. Dosage de la thyroxine (T4) par méthode radio-immunologique dans l'éluat de sang séché : nouvelle méthode de dépistage de l'hypothyroïdie néonatal ? Union Méd 1973 ; 102 : 2062-4.
    • (1973) Union Méd , vol.102 , pp. 2062-2064
    • Dussault, J.H.1    Laberge, C.2
  • 7
    • 0023011626 scopus 로고
    • Neonatal screening for congenital adrenal hyperplasia : A pilote study in France
    • Dhondt JL, Dorche C, Farriaux JP, Courte C. Neonatal screening for congenital adrenal hyperplasia : a pilote study in France. J Inherit Metab Dis 1986 ; 9 : 147-51.
    • (1986) J Inherit Metab Dis , vol.9 , pp. 147-151
    • Dhondt, J.L.1    Dorche, C.2    Farriaux, J.P.3    Courte, C.4
  • 8
    • 0019135955 scopus 로고
    • Cord blood screening for hemoglobin abnormalities by thin layer isoelectric focusing
    • Galactéros F, Kleman K, Caburi-Martin J, Beuzard Y, Rosa J, Lubin B. Cord blood screening for hemoglobin abnormalities by thin layer isoelectric focusing. Blood 1980 ; 56 : 1068.
    • (1980) Blood , vol.56 , pp. 1068
    • Galactéros, F.1    Kleman, K.2    Caburi-Martin, J.3    Beuzard, Y.4    Rosa, J.5    Lubin, B.6
  • 9
    • 0025727755 scopus 로고
    • Neonatal screening for sickle cell disease : A cost-effectiveness analysis
    • Tsevat J, Wong JB, Pauker SG, Steinberg MH. Neonatal screening for sickle cell disease : a cost-effectiveness analysis. J Pediatr 1991 ; 118 : 546-54.
    • (1991) J Pediatr , vol.118 , pp. 546-554
    • Tsevat, J.1    Wong, J.B.2    Pauker, S.G.3    Steinberg, M.H.4
  • 11
    • 0031814460 scopus 로고    scopus 로고
    • Preparation of the first European working standard for phenylalanine determination in dried blood spots
    • Dhondt JL, Loeber J, Elvers LH, Faux E. Preparation of the first European working standard for phenylalanine determination in dried blood spots. J Med Screen 1998 ; 5 : 63-6.
    • (1998) J Med Screen , vol.5 , pp. 63-66
    • Dhondt, J.L.1    Loeber, J.2    Elvers, L.H.3    Faux, E.4
  • 12
    • 0033405715 scopus 로고    scopus 로고
    • Neonatal screening for cystic fibrosis : Present and future
    • Wilcken B, Travert G. Neonatal screening for cystic fibrosis : present and future. Acta Paediatr 1999 (suppl.) 432 : 33-5.
    • (1999) Acta Paediatr , vol.432 , Issue.SUPPL. , pp. 33-35
    • Wilcken, B.1    Travert, G.2
  • 13
    • 0027281807 scopus 로고
    • Results of pilot screening activities in the French neonatal screening program - Cystic fibrosis, congenital adrenal hyperplasia and sickle cell disease
    • Dhondt JL, Farriaux JP, Briard ML, Boschetti R, Frézal J. Results of pilot screening activities in the French neonatal screening program - cystic fibrosis, congenital adrenal hyperplasia and sickle cell disease. Screening 1993 ; 2 : 87-9.
    • (1993) Screening , vol.2 , pp. 87-89
    • Dhondt, J.L.1    Farriaux, J.P.2    Briard, M.L.3    Boschetti, R.4    Frézal, J.5
  • 14
    • 0033405823 scopus 로고    scopus 로고
    • Tandem mass spectrometry screening : Providing effectiveness
    • Pollitt RJ. Tandem mass spectrometry screening : providing effectiveness. Acta Paediatr 1999 (suppl.) 432 : 40-4.
    • (1999) Acta Paediatr , vol.432 , Issue.SUPPL. , pp. 40-44
    • Pollitt, R.J.1
  • 15
    • 0025899340 scopus 로고
    • Economic evaluation of cost-benefit ratio of neonatal screening procedure for phenylketonuria and hypothyroidism
    • Dhondt JL, Farriaux JP, Sailly JC, Lebrun T. Economic evaluation of cost-benefit ratio of neonatal screening procedure for phenylketonuria and hypothyroidism. J Inher Metab Dis 1991 ; 14 : 633-9.
    • (1991) J Inher Metab Dis , vol.14 , pp. 633-639
    • Dhondt, J.L.1    Farriaux, J.P.2    Sailly, J.C.3    Lebrun, T.4
  • 16
    • 0030633008 scopus 로고    scopus 로고
    • Les banques d'ADN
    • Dhondt JL. Les banques d'ADN. Ann Biol Clin 1997 ; 55 : 53-6.
    • (1997) Ann Biol Clin , vol.55 , pp. 53-56
    • Dhondt, J.L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.