LIST OF ABSTRACTS AND PRESENTING AUTHORS
Vyšlo v časopise:
Čes-slov Pediat 2009; 64 (4): 162-168.
MAIN LECTURE
- 1. Population genetics of cystic fibrosis and the EuroCareCF Patient Registry Project: Implications for neonatal screening (review)
Macek M. Jr.
OPENING LECTURE
- 2. From suspicion to diagnosis in children with inborn errors of metabolism
Zeman J.
SESSION 1:
NEWBORN SCREENING FOR INHERITED METABOLIC DISORDERS – EXPANDED METABOLIC SCREENING BY TANDEM MASS SPECTROMETRY
- 3. Quality assurance program for MS/MS analysis in newborn screening and metabolic diagnosis
Lukacs Z.
- 4. Spectrum of medium chain acyl CoA dehydrogenase (MCAD) mutations identified from newborn screening of 1.14 million ethnically diverse infants
Oerton J.
- 5. Screening for defects of peroxisomal ß-oxidation
Janzen N.
- 6. The impact of a second tier blood-spot methylmalonic acid (MMA) using tandem mass spectrometry (MS/MS) on routine newborn screening for IEM
Ranieri E.
- 7. Italian guidelines for expanded newborn screening using tandem mass spectrometry
Antonozzi I.
- 8. Expanded newborn screening for metabolic disorders by tandem mass spectrometry in Italy: current status
Cassanello M.
- 9. Improving newborn screening performance: the Mayo Clinic experience (2004–2008)
Matern D.
POSTERS
- 10. Diet therapy of galactosemia
Mitish M.
- 11. Development and validation of a fast quantitative method for plasma, serum and urine dimethylarginines analysis using ultra performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS)
Di Gangi I. M.
- 12. Egypt experience implementing a pilot newborn screening program using tandem mass spectrometry
Hassan F.
- 13. NeoBase non-derivatized MS/MS assay for amino acids, free carnitine, acylcarnitines and succinylacetone: analytical and clinical performance
Huusko J.
- 14. Characterization of newborns with transient elevation of C3-carnitine
Chang H.-Y.
- 15. LCHAD deficiency – the most frequent fatty acid oxidation disorder in newborn screening in the Czech Republic
Chrastina P.
- 16. Frequency of homocystinuria due to cystathionine beta-synthase deficiency in the Czech Republic: implications for neonatal screening
Kozich V.
- 17. Screening test for enzyme defects in the second part of purine de novo synthesis
Kratschmerova H.
- 18. Identification of a novel FAH large deletion mutation in a Korean neonate with hereditary tyrosinemia type 1
Lee Y.-W.
- 19. New biotinidase assay for plate readers
Lerch A.
- 20. Improved newborn population screening for classical homocystinuria
Lindner M.
- 21. Biotinidase assay for neonatal biotinidase deficiency screening
Mattsson P.
- 22. Selective screening of urine’s organic acids
Novikova I.
- 23. Phenylketonuria in the era of neonatal screening in the Czech Republic, physician’s view
Pazdirkova R.
- 24. Development of an enhanced screening strategy for classical galactosaemia in the Republic of Ireland
Roche G.
- 25. Newborn screening for tyrosinemia I, simultaneous versus separate quantitation of succinylacetone
Sander J.
- 26. Quantitation of amino acids in dried blood spots by iTRAQ®reagent derivatization reaction and LC/MS/MS analysis
Sasaki T. A.
- 27. Value of tandem mass spectrometry in the diagnosis of organic acidemias
Selim L.
- 28. Amino acid and acylcarnitine profile testing in newborns by tandem mass spectrometry. An institutional experience by Acibadem Labmed Clinical Laboratories
Serteser M.
- 29. Evaluation of the commercially available Chromsystems Newborn Screening Kit (non derivatised) for the measurement of acylcarnitines and amino acids
Stopsack M.
- 30. Screening of newborns and older children for inborn errors of metabolism by tandem mass spectrometry in Nuevo Leon, Mexico
Torres M. R.
- 31. Development of an automated galactose-1-phosphate uridyl transferase (GALT) assay for newborn screening of classical galactosemia
Vaisanen V.
SESSION 2:
NEWBORN SCREENING FOR LYSOSOMAL STORAGE DISEASES
- 32. Fluorimetry and mass spectrometry for the determination of lysosomal enzyme activities in dried blood – possibilities for neonatal screening
Lukacs Z.
- 33. Newborn screening for Pompe disease in Taiwan
Hwu W.-L.
- 34. Krabbe disease screening in New York State
Orsini J. J.
- 35. CDC’s quality control program for lysosomal storage disorder newborn screening
De Jesus V. R.
- 36. Pilot study for neonatal screening for Fabry disease
Colon C.
POSTERS
- 37. The application of activity ratio in screening for Pompe disease using florescence substrate
Hsu L.-W.
- 38. Plasma chitotriosidase activity in children with lysosomal storage disorder
Sheth J.
- 39. Optimization of α-L-iduronidase activity assay in dried bloodspots by tandem mass spectrometry
Zhang K.
SESSION 3:
NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM
- 40. Screening for congenital hypothyroidism – new evidence towards a European consensus?
Krude H.
- 41. Thyroid screening in mothers of children from the Neonatal Thyroid Screening (NTS) Program
Stoeva I.
- 42. The Italian National Register of Infants with Congenital Hypothyroidism: surveillance, research and prevention of the disease
Olivieri A.
- 43. Congenital hypothyroidism in Czech population: current approach to diagnosis and follow-up
Al Taji E.
- 44. High incidence of permanent and transient congenital hypothyroidism in premature babies
Chen H.-Ch.
POSTERS
- 45. Neonatal thyroid screening in the Republic of Macedonia (2003–2008)
Anastasovska V.
- 46. Robust and standardised Neonatal hTSH EIA and FEIA assays from Ani Labsystems
Carrard G.
- 47. Development of Neonatal T4 assay for congenital hypothyroidism screening using automated GSP system
Hiekkanen A.
- 48. Development of Neonatal hTSH assay for congenital hypothyroidisms screening using automated GSP system
Hiekkanen A.
- 49. Congenital hypothyroidism (CH) in Moscow city: the results of neonatal screening for 2008 year
Mitkina V.
- 50. Biochip array technology for measurement of thyrotropin in dried blood spots
Parlato G.
- 51. The Bulgarian Neonatal Thyroid Screening (NTS) Programme 1993–2008
Stoeva I.
SESSION 4:
NEWBORN SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA
- 52. The ISNS 17OHP Initiative: Establishing of 17OHP cut-off levels by international collaboration
Blankenstein O.
- 53. Newborn screening for congenital adrenal hyperplasia (CAH) by steroid profile analysis using turbulent flow chromatography by tandem mass spectrometry without acetonitrile
Matern D.
- 54. Proficiency testing for second tier CAH screening: towards harmonization of results
Mei J.
- 55. Prevalence and clinical features of congenital adrenal hyperplasia (CAH) in a multiethnic population without newborn screening
Knowles R. L.
- 56. Newborn screening for congenital adrenal hyperplasia in the Czech Republic: evaluation of the first 28 months reveals one false negative case
Votava F.
POSTERS
- 57. Demonstration of increased throughput with automated multiplexed immunoassays for newborn screening
Sorette M.
- 58. Congenital adrenal hyperplasia as cause of sudden infant death – argument for neonatal screening
Strnadova K.
SESSION 5:
NEWBORN SCREENING FOR CYSTIC FIBROSIS
- 59. Activity and Consensus of European Cystic Fibrosis Society working group of neonatal screening for cystic fibrosis
Castellani C.
- 60. Cystic fibrosis: 7 years of neonatal screening in Catalonia
Marin J. L.
- 61. Cystic fibrosis heel prick among a newborn population in the Netherlands: the CHOPIN-study
Vernooij-van Langen A.
- 62. Newborn screening for cystic fibrosis in England in 2007–2008
Sinclair D.
- 63. Biochemical strategy IRT/PAP in newborn screening for cystic fibrosis
Stopsack M.
- 64. The effectiveness of a combined immunoreactive trypsin (IRT)/pancreatitis-associated protein (PAP)/DNA newborn screening strategy for cystic fibrosis
Ranieri E.
POSTERS
- 65. Pilot study of newborns screening for cystic fibrosis in Serbia
Grkovic S.
- 66. Development of an updated Neonatal AutoDELFIA IRT assay (B005-212) for cystic fibrosis screening
Kerokoski P.
- 67. The decision making process leading towards implementation of a nationwide newborn screening for cystic fibrosis in the Czech Republic
Skalicka V.
- 68. Evaluation study for neonatal screening of cystic fibrosis: comparison between two different Delfia Neonatal IRT kits
Tamanini A.
- 69. Pancreatitis-associated protein in CF screening
Vernooij-van Langen A.
SESSION 6:
EUROPEAN NEWBORN SCREENING: REPORTS BY COUNTRY
- 70. European newborn screening survey
Loeber J. G.
- 71. Newborn screening for phenylketonuria in Bulgaria – past, present and future
Sinigerska I.
- 72. Neonatal screening program for congenital hypothyroidism in Armenia
Tovmasyan I.
- 73. PKU and congenital hypothyroidism screening in east region of Ukraine
Grechanina O.
- 74. National newborn screening in Slovakia
Knapkova M.
- 75. Newborn screening in Szeged, Hungary
Karg E.
- 76. Expanded newborn screening in Norway; advisory report from a national working group
Klingenberg C.
- 77. Four years of expanded newborn screening in Portugal
Vilarinho L.
- 78. Expanded neonatal screening program in the Netherlands: results and some pitfalls
Elvers B.
POSTERS
- 79. Challenges for NBS in emerging countries: is it possible for a NBS program to be better than the health system that carries it out?
Botler J.
- 80. Evaluation of 3-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria in Serbia
Grkovic S.
- 81. Neonatal screening and prevention of the congenital malformation in Saratov region
Gumenuyk O.
- 82. The efficiency of neonatal screening in Saratov region
Gumenuyk O.
- 83. Selective metabolic screening base for introduction of expanded newborn screening for inherited metabolic diseases
Ivanova M.
- 84. Newborn screening by tandem mass spectrometry in Lebanon: 2 years experience
Khneisser I.
- 85. Audit of the neonatal screening programme in Estonia
Muru K.
- 86. Outcome of newborn screening program in the Kingdom of Saudi Arabia
Rahbeeni Z.
SESSION 7:
NEWBORN SCREENING IN USA AND EUROPE: DEVELOPING A EUROPEAN CONSENSUS SCREENING PANEL
- 87. Newborn screening (NBS) in the United States: decision making about the NBS panels
Howell R. R.
SESSION 8:
MISCELLANEOUS TOPICS
- 88. Psychological effects of false positive results in CF newborn screening: a 2 years follow-up
Roussey M.
- 89. Ascertaining parental consent to storage of newborn bloodspot cards
Mackenzie J.
- 90. A high frequency of private mutations in the Swedish galactosemia population
Ohlsson A.
- 91. Newborn screening for sickle cell disease in France
Bardakdjian-Michau J.
- 92. Newborn screening for sickle cell disease using tandem mass spectrometry
Boemer F.
- 93. Results of the first year of universal neonatal screening for sickle cell disease in the Netherlands
Bouva M.
- 94. Evaluation of nine years AABR hearing screening in Dutch NICU’s
Verkerk P. H.
POSTERS
- 95. Newborn screening long-term follow up – case study: Improving outcome for PKU use of drug Tx with diet liberalization
Adams J.
- 96. Education about newborn screening dried bloodspot tests. A programme to improve the quality of dried blood spots and improve the knowledge of staff taking the specimen
Asplin D.
- 97. Evaluation of the neonatal screening for sickle cell disease using the adapted integration software for Variant Newborn Screening System
Bouva M.
- 98. Detection at birth of hearing-impaired children
Dauman R.
- 99. Early detection of sickle cell anemia and others hemoglobinopathies in neonates in the Basque country. Pilot study in anonymous not related population
Espada M.
- 100. MALDI-TOF-MS based screening test for newborn detection of sickle cell disease: what throughput for what results
Hachani J.
- 101. Automated instrument for dried blood spot assays
Furu P.
- 102. False results in newborn bloodspot screening
Hall K.
- 103. Development of a new galactose kit from Ani Labsystems
Hao W.
- 104. Extended immunoassay for hemoglobinopathy screening: moving further with a true screening assay
Huhtinen P.
- 105. A case for mandatory expanded screening
John K.
- 106. Improved total galactose assay for galactosemia screening in newborns
Karvonen H.
- 107. A pilot newborn screening programme for congenital toxoplasmosis in the Republic of Ireland
Mayne P.
- 108. Comparison of different filter papers for the use in newborn screening
Müller C.
- 109. A novel software algorithm for the quantitative calculation of mass spectral ion intensities for inborn errors of metabolism
Nagtalon D.
Štítky
Neonatologie Pediatrie Praktické lékařství pro děti a dorostČlánek vyšel v časopise
Česko-slovenská pediatrie
2009 Číslo 4
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Nejčtenější v tomto čísle
- Abstrakta - pokračování
- Abstrakta - pokračování
- The 6th ISNS European Regional Meeting in Neonatal Screening
- Abstrakta
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