Literature DB >> 25174966

Newborn screening in southeastern Europe.

Urh Groselj1, Mojca Zerjav Tansek1, Andraz Smon1, Natalija Angelkova2, Dana Anton3, Ivo Baric4, Maja Djordjevic5, Lindita Grimci6, Maria Ivanova7, Adil Kadam8, Vjosa Mulliqi Kotori9, Hajrija Maksic10, Oana Marginean11, Otilia Margineanu12, Olivera Milijanovic13, Florentina Moldovanu14, Mariana Muresan15, Simona Murko1, Michaela Nanu14, Barbka Repic Lampret1, Mira Samardzic13, Vladimir Sarnavka16, Aleksei Savov7, Maja Stojiljkovic17, Biljana Suzic18, Radka Tincheva8, Husref Tahirovic19, Alma Toromanovic20, Natalia Usurelu21, Tadej Battelino22.   

Abstract

The aim of our study was to assess the current state of newborn screening (NBS) in the region of southeastern Europe, as an example of a developing region, focusing also on future plans. Responses were obtained from 11 countries. Phenylketonuria screening was not introduced in four of 11 countries, while congenital hypothyroidism screening was not introduced in three of them; extended NBS programs were non-existent. The primary challenges were identified. Implementation of NBS to developing countries worldwide should be considered as a priority.
Copyright © 2014 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Newborn screening; Southeastern Europe; Survey

Mesh:

Year:  2014        PMID: 25174966     DOI: 10.1016/j.ymgme.2014.07.020

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  23 in total

Review 1.  The complete European guidelines on phenylketonuria: diagnosis and treatment.

Authors:  A M J van Wegberg; A MacDonald; K Ahring; A Bélanger-Quintana; N Blau; A M Bosch; A Burlina; J Campistol; F Feillet; M Giżewska; S C Huijbregts; S Kearney; V Leuzzi; F Maillot; A C Muntau; M van Rijn; F Trefz; J H Walter; F J van Spronsen
Journal:  Orphanet J Rare Dis       Date:  2017-10-12       Impact factor: 4.123

2.  PLASMA PHENYLALANINE DETERMINATION BY QUANTITATIVE DENSITOMETRY OF THIN LAYER CHROMATOGRAMS AND BY HIGH PERFORMANCE LIQUID CHROMATOGRAPHY IN RELATION WITH MODERN MANAGEMENT OF PHENYLKETONURIA.

Authors:  C V Mihali; C M Petrescu; F C Ladaşiu-Ciolacu; I Mândruţiu; D Bechet; T Nistor; A Ardelean; Gh Benga
Journal:  Acta Endocrinol (Buchar)       Date:  2018 Oct-Dec       Impact factor: 0.877

3.  COMPARISON OF PLASMA PHENYLALANINE DETERMINATION BY DENSITOMETRY OF THIN-LAYER CHROMATOGRAMS AND BY HIGH PERFORMANCE LIQUID CHROMATOGRAPHY IN RELATION WITH THE SCREENING OF PHENYLKETONURIA.

Authors:  C V Mihali; M C Petrescu; I Mândruţiu; D Bechet; T V Nistor; V Turcuş; A Ardelean; Gh Benga
Journal:  Acta Endocrinol (Buchar)       Date:  2017 Apr-Jun       Impact factor: 0.877

4.  Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.

Authors:  Ziga I Remec; Urh Groselj; Ana Drole Torkar; Mojca Zerjav Tansek; Vanja Cuk; Dasa Perko; Blanka Ulaga; Neza Lipovec; Marusa Debeljak; Jernej Kovac; Tadej Battelino; Barbka Repic Lampret
Journal:  Front Genet       Date:  2021-04-27       Impact factor: 4.599

5.  Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.

Authors:  Mojca Zerjav Tansek; Urh Groselj; Natalija Angelkova; Dana Anton; Ivo Baric; Maja Djordjevic; Lindita Grimci; Maria Ivanova; Adil Kadam; Vjosa Kotori; Hajrija Maksic; Oana Marginean; Otilia Margineanu; Olivera Miljanovic; Florentina Moldovanu; Mariana Muresan; Michaela Nanu; Mira Samardzic; Vladimir Sarnavka; Aleksei Savov; Maja Stojiljkovic; Biljana Suzic; Radka Tincheva; Husref Tahirovic; Alma Toromanovic; Natalia Usurelu; Tadej Battelino
Journal:  Orphanet J Rare Dis       Date:  2015-05-30       Impact factor: 4.123

6.  Fifty-Five Years of Pediatric Endocrinology and 50 Years of the Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases in Slovenia.

Authors:  Tadej Battelino
Journal:  Zdr Varst       Date:  2015-03-13

7.  Newborn Screening in Slovenia.

Authors:  Andraž Šmon; Urh Grošelj; Mojca Žerjav Tanšek; Ajda Biček; Adrijana Oblak; Mirjana Zupančič; Ciril Kržišnik; Barbka Repič Lampr Et; Simona Murko; Sergej Hojker; Tadej Battelino
Journal:  Zdr Varst       Date:  2015-03-13

8.  Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results.

Authors:  Maria Giżewska; Anita MacDonald; Amaya Bélanger-Quintana; Alberto Burlina; Maureen Cleary; Turgay Coşkun; François Feillet; Ania C Muntau; Friedrich K Trefz; Francjan J van Spronsen; Nenad Blau
Journal:  Eur J Pediatr       Date:  2015-09-08       Impact factor: 3.183

9.  Amblyopia screening: a new screening protocol implemented in Croatia.

Authors:  Mladen Bušić; Mirjana Bjeloš; Biljana Kuzmanović Elabjer
Journal:  Croat Med J       Date:  2016-02       Impact factor: 1.351

10.  Challenges of Implementation of the National Phenylketonuria Screening Program in Iran: A Qualitative Study.

Authors:  Alireza Heidari; Mohammad Arab; Koorosh Etemad; Behzad Damari; Mohammad Javad Kabir
Journal:  Electron Physician       Date:  2016-10-25
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