PKU screening in Brazil (English)
- New search for: Schmidt, B. J.
- New search for: Vargas, P. R.
- New search for: Martins, A. M.
- New search for: Jurkiewicz, B.
- New search for: International Society for Neonatal Screening
- New search for: Schmidt, B. J.
- New search for: Vargas, P. R.
- New search for: Martins, A. M.
- New search for: Jurkiewicz, B.
- New search for: Farriaux, J.-P.
- New search for: Dhondt, J.-L.
- New search for: International Society for Neonatal Screening
In:
New horizons in neonatal screening
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329-334
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1994
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ISBN:
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ISSN:
- Conference paper / Print
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Title:PKU screening in Brazil
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Contributors:Schmidt, B. J. ( author ) / Vargas, P. R. ( author ) / Martins, A. M. ( author ) / Jurkiewicz, B. ( author ) / Farriaux, J.-P. / Dhondt, J.-L. / International Society for Neonatal Screening
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Conference:9th International neonatal screening symposium; 2nd meeting, New horizons in neonatal screening ; 1993 ; Lille; France
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Published in:New horizons in neonatal screening ; 329-334EXCERPTA MEDICA INTERNATIONAL CONGRESS SERIES ; 1041 ; 329-334
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Publisher:
- New search for: Excerpta Medica
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Place of publication:Amsterdam , London
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Publication date:1994-01-01
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Size:6 pages
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ISBN:
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ISSN:
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Type of media:Conference paper
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Type of material:Print
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Language:English
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Keywords:
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Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents conference proceedings
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 3
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A new basis for genetic screening policyHoltzman, N. A. / International Society for Neonatal Screening et al. | 1994
- 15
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Newborn screening and informed consentKnoppers, B. M. / International Society for Neonatal Screening et al. | 1994
- 25
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Public health rationale for newborn screening and civic valuesLaberge, C. / International Society for Neonatal Screening et al. | 1994
- 41
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Ethical and legal issues associated with the conservation of blood samplesMattei, J.-F. / International Society for Neonatal Screening et al. | 1994
- 47
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Prevalence of HIV seropositivity - Confidentiality and ethical problemsTappin, D. M. / Girdwood, R. W. A. / Follett, E. A. C. / Kennedy, R. / International Society for Neonatal Screening et al. | 1994
- 57
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Long-term follow-up of patients with inborn errors of metabolismPollitt, R. J. / International Society for Neonatal Screening et al. | 1994
- 61
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Reproductive effects of inborn errors of metabolismLevy, H. L. / International Society for Neonatal Screening et al. | 1994
- 69
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No effect of treatment for patients with histidinemia: long-term follow-up of 124 affected childrenWidhalm, K. / Virmani, K. / International Society for Neonatal Screening et al. | 1994
- 73
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Long term outcome of early treated PKU due to phenylalanine hydroxylase deficiencySmith, I. / International Society for Neonatal Screening et al. | 1994
- 79
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Mental development and school achievement of children with congenital hypothroidism diagnosed by neonatal screeningRochiccioli, P. / Roge, B. / Grafeille, V. / Alexandre, F. / International Society for Neonatal Screening et al. | 1994
- 85
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A programmed clinical screening for inborn errors of metabolism in neonatesSaudubray, J. M. / Poggi, F. / Spada, M. / Billette de Villemeur, T. / International Society for Neonatal Screening et al. | 1994
- 97
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Selective detection among the high risk populations, instead of mass screening, proposed for countries with various homogeneous origins and a stratified distribution of abnormal genesArias, S. / International Society for Neonatal Screening et al. | 1994
- 101
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Impact of systematic screening for PKUHorst, J. / International Society for Neonatal Screening et al. | 1994
- 107
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Intelligence in relation to phenylalanine concentrations in mild phenylketonuria (PKU)Costello, P. M. / Beasley, M. G. / Tillotson, S. L. / Smith, I. / International Society for Neonatal Screening et al. | 1994
- 109
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Intellectual status of young adults with phenylketonuria (PKU)Beasley, M. G. / Costello, P. M. / Smith, I. / International Society for Neonatal Screening et al. | 1994
- 111
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Screening of tetrahydrobiopterin deficiency among hyperphenylalaninemic patientsDhondt, J.-L. / International Society for Neonatal Screening et al. | 1994
- 115
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Experience with the combined phenylalanine-tetrahydrobiopterin loading test in hyperphenylalaninemiaPonzone, A. / Spada, M. / Ferrero, G. B. / Ferraris, S. / International Society for Neonatal Screening et al. | 1994
- 119
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Evaluation of the screening of pregnant women for phenylketonuria during 1972-1992Machill, G. / Seidlitz, G. / Ebener, U. / Knapp, A. / International Society for Neonatal Screening et al. | 1994
- 123
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The impact of systematic screening for congenital hypothyroidismDussault, J. H. / International Society for Neonatal Screening et al. | 1994
- 131
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Congenital hypothyroidism detected by neonatal screening: relationship between biochemical severity and intellectual developmentIchiba, Y. / Inoue, B. / International Society for Neonatal Screening et al. | 1994
- 135
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The National Register of infants with congenital hypothyroidism detected by neonatal screening in ItalySorcini, M. / Balestrazzi, P. / Grandolfo, M. E. / Carta, S. / International Society for Neonatal Screening et al. | 1994
- 139
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Biochemical severity and intelligence in early treated congenital hypothyroidism: a threshold effectTillotson, S. L. / Fuggle, P. / Smith, I. / Ades, A. E. / International Society for Neonatal Screening et al. | 1994
- 141
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Newborn screening for thyroid resistance: implications for attention deficit hyperactivity disorderPass, K. A. / Hedden, M. B. / Morris, J. E. / Hauser, P. / International Society for Neonatal Screening et al. | 1994
- 145
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An initial dosage of g/kg is the appropriate for the vast majority of infants with congenital hypothyroidismTouati, G. / Leger, J. / Toublanc, J. E. / Farriaux, J. P. / International Society for Neonatal Screening et al. | 1994
- 149
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World wide enquiry on incidence of congenital hypothyroidismToublanc, J.-E. / International Society for Neonatal Screening et al. | 1994
- 155
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Congenital adrenal hyperplasia - unsolved questions in neonatal screeningLarsson, A. / Von Doebeln, U. / Guthenberg, C. / Hagenfeldt, L. / International Society for Neonatal Screening et al. | 1994
- 161
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Behavioral and follow-up studies of congenital adrenal hyperplasiaBerenbaum, S. A. / Therrell, B. L. / International Society for Neonatal Screening et al. | 1994
- 165
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Birth weight effect on 17-OH-progesterone (17-OH-P) screening for CAHDulin I�iquez, E. / Torres Huertas, J. / Lopez Lazareno, N. / Sanchez Biezma, E. / International Society for Neonatal Screening et al. | 1994
- 169
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Difficulties in CAH diagnosis associated with newborn screeningTherrell, B. L. / Berenbaum, S. A. / International Society for Neonatal Screening et al. | 1994
- 173
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French Association's experience of screening for congenital adrenal hyperplasiaNivelon, J. L. / Toublanc, J.-E. / Travert, G. / Farriaux, J.-P. / International Society for Neonatal Screening et al. | 1994
- 177
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Neonatal screening of congenital adrenal hyperplasia in Reunion IslandTilmont, P. / Ringel, J. / Fourmaintraux, A. / Alessandri, J. L. / International Society for Neonatal Screening et al. | 1994
- 181
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Galactosemia: early treatment does not prevent long term problemsBuist, N. R. M. / Waggoner, D. D. / International Society for Neonatal Screening et al. | 1994
- 185
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Neonatal screening for galactose metabolic defectsSchickling, H. / Schweitzer, S. / Shin, Y. / Diepenbrock, F. / International Society for Neonatal Screening et al. | 1994
- 191
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High-sensitivity colorimetric mass screening methods for determining galactose and galactose-1-P in dried blood spotsFujimura, Y. / Imai, M. / Yamanaka, K. / Kawamura, M. / International Society for Neonatal Screening et al. | 1994
- 195
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Neonatal screening for haemoglobinopathies in North West London, U.K.Davies, S. C. / Henthorn, J. S. / Graham, V. V. / International Society for Neonatal Screening et al. | 1994
- 199
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Outcome of the first 60 cases followed up for `no haemoglobin A (HbA)' patterns on neonatal screening for sickle cell disease (SCD) in Birmingham, UKHall, S. K. / Green, A. / Darbyshire, P. J. / International Society for Neonatal Screening et al. | 1994
- 203
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Universal hemoglobinopathy screening by HPLC in CaliforniaLorey, F. / Cunningham, G. / International Society for Neonatal Screening et al. | 1994
- 207
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Problems in follow-up of abnormal hemoglobin (Hgb) screening results - U.S. dataTuerck, J. M. / Buist, N. R. M. / International Society for Neonatal Screening et al. | 1994
- 211
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Clinical evaluation of a cohort of sixty cystic fibrosis children identified through neonatal screeningBrouard, J. / Laroche, D. / Hoceine, A. / De Schrevel, G. / International Society for Neonatal Screening et al. | 1994
- 215
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Neonatal intestinal obstruction and immunoreactive trypsinPasquet-Ferre, C. / Brouard, J. / Laloum, D. / Guillemin, M.-G. / International Society for Neonatal Screening et al. | 1994
- 219
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Detection of newborns with chromosomal abnormalities secondary to immunoreactive trypsinogen (IRT) screening for cystic fibrosisReid, K. / Naylor, E. / Mitchell, B. / International Society for Neonatal Screening et al. | 1994
- 223
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VMA mass screening for neuroblastoma: its advantages and disadvantagesOgita, S. / International Society for Neonatal Screening et al. | 1994
- 231
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Neuroblastoma screening: the North American experienceLemieux, B. / Woods, W. / Campion, P. / Leclerc, J. M. / International Society for Neonatal Screening et al. | 1994
- 237
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Neonatal screening for dyslipidemiasGiovannini, M. / Bellu, R. / Ortisi, M. T. / Banderali, G. / International Society for Neonatal Screening et al. | 1994
- 243
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Screening for familial hypercholesterolemia by radioimmunoassay of apolipoproteins B and A-1 in dried blood spotsLemonnier, F. / Masson, J. / Travert, J. / Travert, G. / International Society for Neonatal Screening et al. | 1994
- 247
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Disorders of mitochondrial fatty acid oxidation - especially medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyGregersen, N. / Andresen, B. S. / Bross, P. / Bolund, L. / International Society for Neonatal Screening et al. | 1994
- 257
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Screening of the A 985 to G mutation of the medium chain acyl-CoA dehydrogenase gene in Rhone-Alpes area (Ain, Ardeche, Loire, Rhone): a pilot studyVianey-Saban, C. / Dorche, C. / Divry, P. / Lahet, C. / International Society for Neonatal Screening et al. | 1994
- 261
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Screening for the fragile X mental retardation syndromeMandel, J. L. / Biancalana, V. / Bouix, J. C. / Cossee, M. / International Society for Neonatal Screening et al. | 1994
- 273
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False-negative cases in neonatal screening for Duchenne muscular dystrophyJacobs, H. K. / Greenberg, C. R. / Wrogemann, K. / Seshia, S. S. / International Society for Neonatal Screening et al. | 1994
- 277
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Newborn screening for Duchenne muscular dystrophy: the all-Wales research programmeParsons, E. P. / Bradley, D. M. / Clarke, A. J. / International Society for Neonatal Screening et al. | 1994
- 281
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Organization of a screening network for Turner syndrome with blood spots taken at 9 months of ageDorche, C. / Rolland, M. O. / Morel, Y. / David, M. / International Society for Neonatal Screening et al. | 1994
- 285
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A new screening method for Wilson's disease by measuring blood caeruloplasmin levelFujioka, Y. / Aoki, T. / Shimizu, N. / Morita, Y. / International Society for Neonatal Screening et al. | 1994
- 289
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Reliability of lead measurements of blood collected on filter paper and their potential application to epidemiologic surveysMorrow, J. C. / Hannon, W. H. / Henderson, L. O. / Paschal, D. / International Society for Neonatal Screening et al. | 1994
- 293
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Neo-natal screening for toxoplasmosis - 22 years experienceLaugier, M. / Franck, J. / Dumon, H. / Giraud, F. / International Society for Neonatal Screening et al. | 1994
- 297
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Selective screening for MELAS and MERRF mutations in mitochondrial DNA using dried blood spotsYamaguchi, A. / Fukushi, M. / Shimizu, Y. / Kikuchi, Y. / International Society for Neonatal Screening et al. | 1994
- 301
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Neonatal screening in countries with socioeconomic developmental problems: results of an international inquiryVelazquez, A. / International Society for Neonatal Screening et al. | 1994
- 309
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The problems of newborn screening in a developing countryDemirkol, M. / Baykal, T. / Huener, G. / Yalvac, S. / International Society for Neonatal Screening et al. | 1994
- 317
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Neonatal screening in Spain 1968-1992Moya Benavent, M. / Cortes Castele, E. / Remon Alvarez-Arenas, J. M. / Sanchez Alarcon, J. / International Society for Neonatal Screening et al. | 1994
- 321
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15 years mass neonatal screening in BulgariaKremensky, I. / Kalaidjieva, L. / International Society for Neonatal Screening et al. | 1994
- 325
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Neonatal mass screening for metabolic disorders in Italy: third technical reportCaruso, U. / Cerone, R. / Cohen, A. / Romano, C. / International Society for Neonatal Screening et al. | 1994
- 329
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PKU screening in BrazilSchmidt, B. J. / Vargas, P. R. / Martins, A. M. / Jurkiewicz, B. / International Society for Neonatal Screening et al. | 1994
- 335
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Prenatal diagnosis in fetal cells from maternal bloodGaenshirt-Ahlert, D. / Boerjesson-Stoll, R. / Burschyk, M. / Dohr, A. / International Society for Neonatal Screening et al. | 1994
- 339
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Prenatal screening for Down syndromeHaddow, J. E. / Palomaki, G. E. / International Society for Neonatal Screening et al. | 1994
- 349
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Antenatal maternal serum screening for Down's syndrome: results of the French prospective pilot study on 22,410 pregnanciesAyme, S. / Briard, M.-L. / Farriaux, J.-P. / International Society for Neonatal Screening et al. | 1994
- 353
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Estimating the uncertainty in reported Down syndrome detection rates: application of mathematical modelling techniques to the `triple test' and free beta/intact hCGWright, D. / Davies, C. / Donovan, C. / International Society for Neonatal Screening et al. | 1994
- 357
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Antenatal diagnosis of inherited metabolic disorders using gas chromatography-mass spectrometryJakobs, C. / International Society for Neonatal Screening et al. | 1994
- 367
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Technical and financial consequences owed to the choice of immunoassay reagents used to screen large populationsIngrand, J. / International Society for Neonatal Screening et al. | 1994
- 373
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Neonatal screening for inborn errors of metabolism by automated dynamic liquid secondary ion tandem mass spectrometryChace, D. H. / Millington, D. S. / International Society for Neonatal Screening et al. | 1994
- 377
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Automation of molecular genetic screeningZhang, Y. H. / Therrell, B. L. / McCabe, E. R. B. / International Society for Neonatal Screening et al. | 1994
- 379
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Summary of the meeting `Quality assurance in newborn screening', Hardelot, September 11-13, 1993Dhondt, J.-L. / Hannon, H. / Torresani, T. / Webster, D. / International Society for Neonatal Screening et al. | 1994