메뉴 건너뛰기




Volumn 101, Issue 2-3, 2010, Pages 95-98

Newborn screening in Spain, with particular reference to Galicia: Echoes of Louis I. Woolf

Author keywords

Galicia; Louis I. Woolf; Newborn screening; Planar chromatography; Spain

Indexed keywords

BLOOD SAMPLING; CONGENITAL MALFORMATION; HEALTH PROGRAM; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY DIAGNOSIS; NEWBORN; NEWBORN SCREENING; NOTE; PLANAR CHROMATOGRAPHY; POPULATION RESEARCH; PRIORITY JOURNAL; SPAIN;

EID: 77957223843     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.06.001     Document Type: Note
Times cited : (5)

References (48)
  • 1
    • 84941432771 scopus 로고
    • Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezilität Hoppe-Seylers Zeitschrift für
    • Følling A. Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezilität Hoppe-Seylers Zeitschrift für. Physiol. Chem. 1934, 227:169-176.
    • (1934) Physiol. Chem. , vol.227 , pp. 169-176
    • Følling, A.1
  • 2
    • 0001766645 scopus 로고
    • Excretion of phenylpyruvic acid in urine as a metabolic anomaly in connection with imbecility
    • Følling A. Excretion of phenylpyruvic acid in urine as a metabolic anomaly in connection with imbecility. Nord. Med. Tidskr. 1934, 8:1054-1059.
    • (1934) Nord. Med. Tidskr. , vol.8 , pp. 1054-1059
    • Følling, A.1
  • 3
    • 0001723792 scopus 로고
    • Studies on phenylpyruvic oligophrenia. The position of the metabolic error
    • Jervis G.A. Studies on phenylpyruvic oligophrenia. The position of the metabolic error. J. Biol. Chem. 1947, 169:651-656.
    • (1947) J. Biol. Chem. , vol.169 , pp. 651-656
    • Jervis, G.A.1
  • 4
    • 50449135748 scopus 로고
    • The influence of phenylalanine intake on Phenylketonuria
    • Oct
    • Bickel H., Gerrard J., Hickmans E.M. The influence of phenylalanine intake on Phenylketonuria. Lancet 1953, Oct, 17:812-813.
    • (1953) Lancet , vol.17 , pp. 812-813
    • Bickel, H.1    Gerrard, J.2    Hickmans, E.M.3
  • 5
    • 0003042138 scopus 로고
    • The influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child
    • Bickel H., Gerrard J., Hickmans E.M. The influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child. Acta. Paediat. 1954, 43:64-67.
    • (1954) Acta. Paediat. , vol.43 , pp. 64-67
    • Bickel, H.1    Gerrard, J.2    Hickmans, E.M.3
  • 6
    • 0002424530 scopus 로고
    • Treatment of Phenylketonuria with a diet low in phenylalanine
    • Jan
    • Woolf L.I., Griffiths R., Moncrieff A. Treatment of Phenylketonuria with a diet low in phenylalanine. Br. Med. J. 1955, Jan, 8:57-64.
    • (1955) Br. Med. J. , vol.8 , pp. 57-64
    • Woolf, L.I.1    Griffiths, R.2    Moncrieff, A.3
  • 7
    • 75149195892 scopus 로고    scopus 로고
    • The contribution of Louis I. WOOLF to the treatment and early diagnosis of phenylketonuria and other inborn errors of metabolism
    • Alonso-Fernández J.R., Colon C. The contribution of Louis I. WOOLF to the treatment and early diagnosis of phenylketonuria and other inborn errors of metabolism. J. Med. Screen. 2009, 16:205-211.
    • (2009) J. Med. Screen. , vol.16 , pp. 205-211
    • Alonso-Fernández, J.R.1    Colon, C.2
  • 8
    • 75149170953 scopus 로고
    • Fenilcetonuria
    • Peña J. Fenilcetonuria. Rev. Esp. Pediatr. 1958, 14(79):1-26.
    • (1958) Rev. Esp. Pediatr. , vol.14 , Issue.79 , pp. 1-26
    • Peña, J.1
  • 11
    • 77957220666 scopus 로고
    • Oligofrenia fenilpirúvica
    • Martinez Perez F. Oligofrenia fenilpirúvica. Rev. Esp. Pediat. 1956, 11(6):577-580.
    • (1956) Rev. Esp. Pediat. , vol.11 , Issue.6 , pp. 577-580
    • Martinez Perez, F.1
  • 12
    • 77957239602 scopus 로고
    • Tres casos de Fenilcetonuria
    • Suarez M., Peña J. Tres casos de Fenilcetonuria. Rev. Esp. Pediat. 1958, 14(79):27-37.
    • (1958) Rev. Esp. Pediat. , vol.14 , Issue.79 , pp. 27-37
    • Suarez, M.1    Peña, J.2
  • 13
    • 75149176263 scopus 로고
    • Tests for phenylketonuria: results of a one-year programme for its detection in infancy and among mental defectives
    • Gibbs N.K., Woolf L.I. Tests for phenylketonuria: results of a one-year programme for its detection in infancy and among mental defectives. Br. Med. J. 1959, 5151:532-535.
    • (1959) Br. Med. J. , vol.5151 , pp. 532-535
    • Gibbs, N.K.1    Woolf, L.I.2
  • 14
    • 33748552560 scopus 로고
    • Phenylketonuria
    • Centerwall W.R. Phenylketonuria. JAMA 1957, 165:392.
    • (1957) JAMA , vol.165 , pp. 392
    • Centerwall, W.R.1
  • 15
    • 75149172768 scopus 로고
    • Simple method for detection of phenylketonuria
    • Berry H.K., Sutherland B., Guest G.M., Warkainy J. Simple method for detection of phenylketonuria. JAMA 1958, 167:2189-2190.
    • (1958) JAMA , vol.167 , pp. 2189-2190
    • Berry, H.K.1    Sutherland, B.2    Guest, G.M.3    Warkainy, J.4
  • 16
    • 26944492953 scopus 로고
    • Procedures for testing urine specimens dried on filter paper
    • Berry H.K. Procedures for testing urine specimens dried on filter paper. Clin. Chem. 1959, 5(6):603-608.
    • (1959) Clin. Chem. , vol.5 , Issue.6 , pp. 603-608
    • Berry, H.K.1
  • 17
    • 75149173885 scopus 로고
    • Large-scale screening for metabolic disease in the newborn in Great Britain
    • Children's Bureau, Washington, (div), J.A. Anderson, K.F. Swaiman (Eds.)
    • Woolf L.I. Large-scale screening for metabolic disease in the newborn in Great Britain. Phenylketonuria and Allied Metabolic Diseases 1967, 50-61. Children's Bureau, Washington, (div). J.A. Anderson, K.F. Swaiman (Eds.).
    • (1967) Phenylketonuria and Allied Metabolic Diseases , pp. 50-61
    • Woolf, L.I.1
  • 18
    • 84965347342 scopus 로고
    • Phenylketonuria: City of Birmingham Screening Survey
    • Boyd M.M.M. Phenylketonuria: City of Birmingham Screening Survey. Brit. Med. J. 1961, 1:771-773.
    • (1961) Brit. Med. J. , vol.1 , pp. 771-773
    • Boyd, M.M.M.1
  • 19
    • 0001600393 scopus 로고
    • Blood screening for phenylketonuria
    • Guthrie R. Blood screening for phenylketonuria. JAMA 1961, 178:863.
    • (1961) JAMA , vol.178 , pp. 863
    • Guthrie, R.1
  • 20
    • 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, 32:338-343.
    • (1963) Pediatrics , vol.32 , pp. 338-343
    • Guthrie, R.1    Susi, A.2
  • 21
    • 1542560237 scopus 로고
    • Fluorimetric method for the determination of phenylalanine in serum
    • McCaman M.W., Robins E. Fluorimetric method for the determination of phenylalanine in serum. J. Lab. Clin. Med. 1962, 59:885.
    • (1962) J. Lab. Clin. Med. , vol.59 , pp. 885
    • McCaman, M.W.1    Robins, E.2
  • 24
    • 77957227085 scopus 로고    scopus 로고
    • Conferencia de presentación de la Asociación Española de Cribado Neonatal (AECNE). 25th October.
    • F. Mayor Zaragoza, Conferencia de presentación de la Asociación Española de Cribado Neonatal (AECNE). 25th October 2006. http://www.aecne.es.
    • (2006)
    • Mayor Zaragoza, F.1
  • 25
    • 77957224560 scopus 로고
    • Personal communication. June
    • J. Sabater Tobella, Personal communication. June 1995.
    • (1995)
    • Sabater Tobella, J.1
  • 26
    • 77957220807 scopus 로고    scopus 로고
    • Personal communication. October
    • A. Maya, Personal communication. October 2006.
    • (2006)
    • Maya, A.1
  • 27
    • 77957234552 scopus 로고
    • Aportaciones al Diagnóstico Precoz de Alteraciones Metabólicas Congénitas en el Recién Nacido.
    • A. Maya, Aportaciones al Diagnóstico Precoz de Alteraciones Metabólicas Congénitas en el Recién Nacido. PhD thesis, Faculty of Pharmacy, University of Barcelona. 1974.
    • (1974) PhD thesis, Faculty of Pharmacy, University of Barcelona.
    • Maya, A.1
  • 28
    • 65549097852 scopus 로고
    • The organization and methods of neonatal and metabolic screening in the regional screening centre of Galicia (Spain)
    • B.L. Therrel (Ed.) Advances in Neonatal Screening
    • Fraga J.M., Alonso-Fernandez J.R., Boveda M.D., Cocho J.A., Bravo M., Peña J. The organization and methods of neonatal and metabolic screening in the regional screening centre of Galicia (Spain). Excerpta Medica 1987, 481-483. B.L. Therrel (Ed.).
    • (1987) Excerpta Medica , pp. 481-483
    • Fraga, J.M.1    Alonso-Fernandez, J.R.2    Boveda, M.D.3    Cocho, J.A.4    Bravo, M.5    Peña, J.6
  • 29
    • 65549152577 scopus 로고
    • Galactose newborn screening test for reducing sugars in urine samples impregnated on paper
    • B.L. Therrel (Ed.) Advances in Neonatal Screening
    • Alonso-Fernandez J.R., Castiñeiras D.E., Parrado C., Fraga J.M., Peña J. Galactose newborn screening test for reducing sugars in urine samples impregnated on paper. Excerpta Medica 1987, 233-238. B.L. Therrel (Ed.).
    • (1987) Excerpta Medica , pp. 233-238
    • Alonso-Fernandez, J.R.1    Castiñeiras, D.E.2    Parrado, C.3    Fraga, J.M.4    Peña, J.5
  • 30
    • 0019732003 scopus 로고
    • Continuous thin-layer chromatography of sugars of clinical interest in samples of urine impregnated on paper
    • Alonso-Fernandez J.R., Boveda M.D., Parrado C., Peña J., Fraga J.M. Continuous thin-layer chromatography of sugars of clinical interest in samples of urine impregnated on paper. J. Chrom. 1981, 217:357-366.
    • (1981) J. Chrom. , vol.217 , pp. 357-366
    • Alonso-Fernandez, J.R.1    Boveda, M.D.2    Parrado, C.3    Peña, J.4    Fraga, J.M.5
  • 31
    • 65549136837 scopus 로고
    • Inborn errors of metabolism of carbohydrates: a new method for the detection and identification of sugars in urine and blood from samples impregnated on paper
    • H. Naruse, M. Irie (Eds.) Neonatal Screening
    • Alonso-Fernandez J.R., Parrado C., Boveda M.D., Peña J., Fraga J.M. Inborn errors of metabolism of carbohydrates: a new method for the detection and identification of sugars in urine and blood from samples impregnated on paper. Excerpta Medica 1982, 256-257. H. Naruse, M. Irie (Eds.).
    • (1982) Excerpta Medica , pp. 256-257
    • Alonso-Fernandez, J.R.1    Parrado, C.2    Boveda, M.D.3    Peña, J.4    Fraga, J.M.5
  • 32
    • 77951615146 scopus 로고    scopus 로고
    • Continuous evaporative chromatography with a discrete volume of elution in the detection and classification of galactosemias.
    • Ed. H.L. Levy, R.J. Hermos, G.F. Grady. Edit. Nernsp, 305 South Street. Jamaica Plain, MA 02130. USA.
    • J.R. Alonso-Fernández, C. Castiñeiras, P. Villar, J.A. Cocho, M.D. Bóveda, Continuous evaporative chromatography with a discrete volume of elution in the detection and classification of galactosemias. In Proceedings of the Third Meeting of the International Society for Neonatal Screening. Ed. H.L. Levy, R.J. Hermos, G.F. Grady. Edit. Nernsp, 305 South Street. Jamaica Plain, MA 02130. USA. pp: 129-130. 1997.
    • (1997) In Proceedings of the Third Meeting of the International Society for Neonatal Screening. , pp. 129-130
    • Alonso-Fernández, J.R.1    Castiñeiras, C.2    Villar, P.3    Cocho, J.A.4    Bóveda, M.D.5
  • 33
    • 0024398604 scopus 로고
    • Simultaneous elution from sample-paper and loading in thin layer chromatography for differential diagnosis of galactosemias
    • B.J. Schmidt, A.J. Diament, Loghin-Grosso (Eds.) Current trends in Infant Screening
    • Boveda M.D., Alonso-Fernandez J.R., Fraga J.M., Peña J. Simultaneous elution from sample-paper and loading in thin layer chromatography for differential diagnosis of galactosemias. Excerpta Medica 1989, 181-185. B.J. Schmidt, A.J. Diament, Loghin-Grosso (Eds.).
    • (1989) Excerpta Medica , pp. 181-185
    • Boveda, M.D.1    Alonso-Fernandez, J.R.2    Fraga, J.M.3    Peña, J.4
  • 35
    • 77957239187 scopus 로고
    • Neonatal screening for metabolopathies in less than an hour by pressure paper chromatography
    • The Kelvin Presss, B. Wilcken, D. Webster (Eds.)
    • Alonso-Fernandez J.R. Neonatal screening for metabolopathies in less than an hour by pressure paper chromatography. Neonatal Screening in the Nineties 1991, 371. The Kelvin Presss. B. Wilcken, D. Webster (Eds.).
    • (1991) Neonatal Screening in the Nineties , pp. 371
    • Alonso-Fernandez, J.R.1
  • 36
    • 77957227902 scopus 로고
    • Digital image processing of paper aminoacidograms in neonatal screening
    • The Kelvin Presss, B. Wilcken, D. Webster (Eds.)
    • Alonso-Fernandez J.R., Gomez L.P., Casas A., Lopez J.M. Digital image processing of paper aminoacidograms in neonatal screening. Neonatal Screening in the Nineties 1991, 372. The Kelvin Presss. B. Wilcken, D. Webster (Eds.).
    • (1991) Neonatal Screening in the Nineties , pp. 372
    • Alonso-Fernandez, J.R.1    Gomez, L.P.2    Casas, A.3    Lopez, J.M.4
  • 37
    • 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 néonatale?
    • Dussault J.H., Laberge C. Dosage de la thyroxine (T4) par méthode radio-immunologique dans l'éluat de sang séché: nouvelle méthode de dépistage de l'hypothyroïdie néonatale?. Unión Méd. Can. 1973, 102(10):2062-2064.
    • (1973) Unión Méd. Can. , vol.102 , Issue.10 , pp. 2062-2064
    • Dussault, J.H.1    Laberge, C.2
  • 40
    • 77957235153 scopus 로고
    • Diagnóstico Precoz del Hipotiroidismo Congénito y de la Deficiencia de Hormona del Crecimiento
    • Pombo M., Alonso-Fernandez J.R., Bravo M., Fraga J.M., Peña J. Diagnóstico Precoz del Hipotiroidismo Congénito y de la Deficiencia de Hormona del Crecimiento. An. Esp. Ped. 1987, 27(sup. 28):44-47.
    • (1987) An. Esp. Ped. , vol.27 , Issue.SUPPL. 28 , pp. 44-47
    • Pombo, M.1    Alonso-Fernandez, J.R.2    Bravo, M.3    Fraga, J.M.4    Peña, J.5
  • 43
    • 79956303294 scopus 로고    scopus 로고
    • The TSH Threshold in Neonatal Screening for Congenital Hypothyroidism: A variable solution. Arch. Dis. Child, .doi:10.1136/adc.2010.189340
    • C. Colón, J.R. Alonso-Fernández, The TSH Threshold in Neonatal Screening for Congenital Hypothyroidism: A variable solution. Arch. Dis. Child, doi:10.1136/adc.2010.189340.
    • Colón, C.1    Alonso-Fernández, J.R.2
  • 44
    • 77953500276 scopus 로고    scopus 로고
    • Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine-impregnated paper: preliminary results of an improved DMB-based procedure
    • Alonso-Fernandez J.R., Fidalgo J., Colon C. Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine-impregnated paper: preliminary results of an improved DMB-based procedure. J. Clin. Lab. Anal. 2010, 24(3):149-153.
    • (2010) J. Clin. Lab. Anal. , vol.24 , Issue.3 , pp. 149-153
    • Alonso-Fernandez, J.R.1    Fidalgo, J.2    Colon, C.3
  • 45
    • 34347386729 scopus 로고    scopus 로고
    • Aplicación de la Espectrometría de Masas en Tandem al análisis de aminoácidos, acilcarnitinas, acilglicinas y ácidos orgánicos en muestras de orina en papel
    • Rebollido M., Cocho J.A., Castiñeiras D.E., Bóveda M.D., Fraga J.M. Aplicación de la Espectrometría de Masas en Tandem al análisis de aminoácidos, acilcarnitinas, acilglicinas y ácidos orgánicos en muestras de orina en papel. Quim. Clin. 2006, 25(2):64-74.
    • (2006) Quim. Clin. , vol.25 , Issue.2 , pp. 64-74
    • Rebollido, M.1    Cocho, J.A.2    Castiñeiras, D.E.3    Bóveda, M.D.4    Fraga, J.M.5
  • 47
    • 77951600795 scopus 로고    scopus 로고
    • Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper-borne urine and blood samples in newborn screening
    • Alonso-Fernandez J.R., Carpinteiro M.I., Baleato J., Fidalgo J. Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper-borne urine and blood samples in newborn screening. J. Clin. Lab. Anal. 2010, 24(2):106-112.
    • (2010) J. Clin. Lab. Anal. , vol.24 , Issue.2 , pp. 106-112
    • Alonso-Fernandez, J.R.1    Carpinteiro, M.I.2    Baleato, J.3    Fidalgo, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.