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

Molecular Genetics and Metabolism - Tập 101 - Trang 95-98 - 2010
J.R. Alonso-Fernández1, C. Colón1
1Laboratorio de Metabolopatías Departamento de Pediatria Hospital Clínico (CHUS) and Universidade de Santiago de Compostela, Santiago de Compostela, Spain

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Følling, 1934, Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezilität Hoppe-Seylers Zeitschrift für, Physiol. Chem., 227, 169, 10.1515/bchm2.1934.227.1-4.169 Følling, 1934, Excretion of phenylpyruvic acid in urine as a metabolic anomaly in connection with imbecility, Nord. Med. Tidskr., 8, 1054 Jervis, 1947, Studies on phenylpyruvic oligophrenia. The position of the metabolic error, J. Biol. Chem., 169, 651, 10.1016/S0021-9258(17)30882-7 Bickel, 1953, The influence of phenylalanine intake on Phenylketonuria, Lancet, 17, 812, 10.1016/S0140-6736(53)90473-5 Bickel, 1954, The influence of phenylalanine intake on the chemistry and behaviour of a phenylketonuric child, Acta. Paediat., 43, 64, 10.1111/j.1651-2227.1954.tb04000.x Woolf, 1955, Treatment of Phenylketonuria with a diet low in phenylalanine, Br. Med. J., 8, 57, 10.1136/bmj.1.4905.57 Alonso-Fernández, 2009, The contribution of Louis I. WOOLF to the treatment and early diagnosis of phenylketonuria and other inborn errors of metabolism, J. Med. Screen., 16, 205, 10.1258/jms.2009.009062 Peña, 1958, Fenilcetonuria, Rev. Esp. Pediatr., 14, 1 Schramm, 1943, Ber. Dtsh. Chem. Ges., 76, 373, 10.1002/cber.19430760411 Woolf, 1958, The dietary treatment of phenylketonuria, Arch. Dis. Child., 33, 31, 10.1136/adc.33.167.31 Martinez Perez, 1956, Oligofrenia fenilpirúvica, Rev. Esp. Pediat., 11, 577 Suarez, 1958, Tres casos de Fenilcetonuria, Rev. Esp. Pediat., 14, 27 Gibbs, 1959, Tests for phenylketonuria: results of a one-year programme for its detection in infancy and among mental defectives, Br. Med. J., 5151, 532, 10.1136/bmj.2.5151.532 Centerwall, 1957, Phenylketonuria, JAMA, 165, 392, 10.1001/jama.1957.02980220076022 Berry, 1958, Simple method for detection of phenylketonuria, JAMA, 167, 2189, 10.1001/jama.1958.72990350004005a Berry, 1959, Procedures for testing urine specimens dried on filter paper, Clin. Chem., 5, 603, 10.1093/clinchem/5.6.603 Woolf, 1967, Large-scale screening for metabolic disease in the newborn in Great Britain, 50 Boyd, 1961, Phenylketonuria: City of Birmingham Screening Survey, Brit. Med. J., 1, 771, 10.1136/bmj.1.5228.771 Guthrie, 1961, Blood screening for phenylketonuria, JAMA, 178, 863, 10.1001/jama.1961.03040470079019 Guthrie, 1963, A simple Phenylalanine method for detecting Phenylketonuria in large populations of newborn infants, Pediatrics, 32, 338, 10.1542/peds.32.3.338 McCaman, 1962, Fluorimetric method for the determination of phenylalanine in serum, J. Lab. Clin. Med., 59, 885 J.M. Sánchez de Medina Contreras, Los orígenes de la detección masiva de enzimopatías en España. Historia del CIAMYC. Prevención de enfermedades metabólicas congénitas. 1987;año I, nº 1:6–9. M. Ugarte, La Patología molecular, una nueva disciplina. In Homenaje a Federico Mayor Zaragoza. Ed. J.M. Medina, I. Núñez de Castro, M. Ugarte. Editorial: Círculo de Lectores. pp:73–80. Depósito Legal: B-51284-2005. 2005. F. Mayor Zaragoza, Conferencia de presentación de la Asociación Española de Cribado Neonatal (AECNE). 25th October 2006. http://www.aecne.es. J. Sabater Tobella, Personal communication. June 1995. A. Maya, Personal communication. October 2006. A. Maya, Aportaciones al Diagnóstico Precoz de Alteraciones Metabólicas Congénitas en el Recién Nacido. PhD thesis, Faculty of Pharmacy, University of Barcelona. 1974. Fraga, 1987, The organization and methods of neonatal and metabolic screening in the regional screening centre of Galicia (Spain), 481 Alonso-Fernandez, 1987, Galactose newborn screening test for reducing sugars in urine samples impregnated on paper, 233 Alonso-Fernandez, 1981, Continuous thin-layer chromatography of sugars of clinical interest in samples of urine impregnated on paper, J. Chrom., 217, 357, 10.1016/S0021-9673(00)88090-5 Alonso-Fernandez, 1982, 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, 256 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. Boveda, 1989, Simultaneous elution from sample-paper and loading in thin layer chromatography for differential diagnosis of galactosemias, 181 Alonso-Fernandez, 1988, Application of pressure paper chromatography to neonatal screening for aminoacidopathies Alonso-Fernandez, 1991, Neonatal screening for metabolopathies in less than an hour by pressure paper chromatography, 371 Alonso-Fernandez, 1991, Digital image processing of paper aminoacidograms in neonatal screening, 372 Dussault, 1973, 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., 102, 2062 Dussault, 1975, Preliminary report on a mass screening program for neonatal hypothyroidism, J. Pediatr., 86, 670, 10.1016/S0022-3476(75)80349-0 Alonso-Fernandez, 1985 Pombo, 1987, Diagnóstico Precoz del Hipotiroidismo Congénito y de la Deficiencia de Hormona del Crecimiento, An. Esp. Ped., 27, 44 Colón, 1986, Dépistage de L'Hypothyroïdie néonatal avec un immuno-essai marqué à l'Europium. Étude comparative de courbes de calibrage Alonso-Fernandez, 1997, Determinación de TSH Neonatal con el método DELFIA reduciendo a dos horas el periodo de Elución-Incubación, concentrando el trazador y el analito 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. Alonso-Fernandez, 2010, 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., 24, 149, 10.1002/jcla.20375 Rebollido, 2006, 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., 25, 64 Scriver, 1985, Ontogeny modifies manifestations of cystinuria genes: implications for counseling, J. Pediatr., 106, 411, 10.1016/S0022-3476(85)80666-1 Alonso-Fernandez, 2010, 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., 24, 106, 10.1002/jcla.20371 Couce Pico, 2007, Avances en el diagnóstico y tratamiento de la enfermedad de jarabe de arce, experiencia en Galicia, An. Pediatr. (Barc), 67, 337, 10.1016/S1695-4033(07)70651-3