Vyšlo v časopise: Čes-slov Pediat 2009; 64 (4): 162-168.


  • 1. Population genetics of cystic fibrosis and the EuroCareCF Patient Registry Project: Implications for neonatal screening (review)

Macek M. Jr.


  • 2. From suspicion to diagnosis in children with inborn errors of metabolism

Zeman J.



  • 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.


  • 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.



  • 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.


  • 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.



  • 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.


  • 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.



  • 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.


  • 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.



  • 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.


  • 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.



  • 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.


  • 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.



  • 87. Newborn screening (NBS) in the United States: decision making about the NBS panels

Howell R. R.



  • 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.


  • 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.

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