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Pregled bibliografske jedinice broj: 1215373

Neonatal screening in Europe revisited: An ISNS perspective on the current state and developments since 2010

Loeber, J. Gerard; Platis, Dimitris; Zetterström, Rolf H.; Almashanu, Shlomo; Boemer, François; Bonham, James R.; Borde, Patricia; Brincat, Ian; Cheillan, David; Dekkers, Eugenie et al.
Neonatal screening in Europe revisited: An ISNS perspective on the current state and developments since 2010 // International journal of neonatal screening, 7 (2021), 1; 15, 21 doi:10.3390/ijns7010015 (međunarodna recenzija, članak, stručni)

CROSBI ID: 1215373 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Neonatal screening in Europe revisited: An ISNS perspective on the current state and developments since 2010

Autori
Loeber, J. Gerard ; Platis, Dimitris ; Zetterström, Rolf H. ; Almashanu, Shlomo ; Boemer, François ; Bonham, James R. ; Borde, Patricia ; Brincat, Ian ; Cheillan, David ; Dekkers, Eugenie ; Dimitrov, Dobry ; Fingerhut, Ralph ; Franzson, Leifur ; Groselj, Urh ; Hougaard, David ; Knapkova, Maria ; Kocova, Mirjana ; Kotori, Vjosa ; Kozich, Viktor ; Kremezna, Anastasiia ; Kurkijärvi, Riikka ; La Marca, Giancarlo ; Mikelsaar, Ruth ; Milenkovic, Tatjana ; Mitkin, Vyacheslav ; Moldovanu, Florentina ; Ceglarek, Uta ; O'Grady, Loretta ; Oltarzewski, Mariusz ; Pettersen, Rolf D. ; Ramadža, Danijela ; Salimbayeva, Damilya ; Samardzic, Mira ; Shamsiddinova, Markhabo ; Songailiené, Jurgita ; Szatmari, Ildiko ; Tabatadze, Nazi ; Tezel, Basak ; Toromanovic, Alma ; Tovmasyan, Irina ; Usurelu, Natalia ; Vevere, Parsla ; Vilarinho, Laura ; Vogazianos, Marios ; Yahyaoui, Raquel ; Zeyda, Maximilian ; Schielen, Peter C.J.I.

Izvornik
International journal of neonatal screening (2409-515X) 7 (2021), 1; 15, 21

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
newborn screening, Europe ; ISNS, rare diseases

Sažetak
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders ("conditions") then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40-50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Danijela Petković-Ramadža (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

Loeber, J. Gerard; Platis, Dimitris; Zetterström, Rolf H.; Almashanu, Shlomo; Boemer, François; Bonham, James R.; Borde, Patricia; Brincat, Ian; Cheillan, David; Dekkers, Eugenie et al.
Neonatal screening in Europe revisited: An ISNS perspective on the current state and developments since 2010 // International journal of neonatal screening, 7 (2021), 1; 15, 21 doi:10.3390/ijns7010015 (međunarodna recenzija, članak, stručni)
Loeber, J., Platis, D., Zetterström, R., Almashanu, S., Boemer, F., Bonham, J., Borde, P., Brincat, I., Cheillan, D. & Dekkers, E. (2021) Neonatal screening in Europe revisited: An ISNS perspective on the current state and developments since 2010. International journal of neonatal screening, 7 (1), 15, 21 doi:10.3390/ijns7010015.
@article{article, author = {Loeber, J. Gerard and Platis, Dimitris and Zetterstr\"{o}m, Rolf H. and Almashanu, Shlomo and Boemer, Fran\c{c}ois and Bonham, James R. and Borde, Patricia and Brincat, Ian and Cheillan, David and Dekkers, Eugenie and Dimitrov, Dobry and Fingerhut, Ralph and Franzson, Leifur and Groselj, Urh and Hougaard, David and Knapkova, Maria and Kocova, Mirjana and Kotori, Vjosa and Kozich, Viktor and Kremezna, Anastasiia and Kurkij\"{a}rvi, Riikka and La Marca, Giancarlo and Mikelsaar, Ruth and Milenkovic, Tatjana and Mitkin, Vyacheslav and Moldovanu, Florentina and Ceglarek, Uta and O'Grady, Loretta and Oltarzewski, Mariusz and Pettersen, Rolf D. and Ramad\v{z}a, Danijela and Salimbayeva, Damilya and Samardzic, Mira and Shamsiddinova, Markhabo and Songailien\'{e}, Jurgita and Szatmari, Ildiko and Tabatadze, Nazi and Tezel, Basak and Toromanovic, Alma and Tovmasyan, Irina and Usurelu, Natalia and Vevere, Parsla and Vilarinho, Laura and Vogazianos, Marios and Yahyaoui, Raquel and Zeyda, Maximilian and Schielen, Peter C.J.I.}, year = {2021}, pages = {21}, DOI = {10.3390/ijns7010015}, chapter = {15}, keywords = {newborn screening, Europe, ISNS, rare diseases}, journal = {International journal of neonatal screening}, doi = {10.3390/ijns7010015}, volume = {7}, number = {1}, issn = {2409-515X}, title = {Neonatal screening in Europe revisited: An ISNS perspective on the current state and developments since 2010}, keyword = {newborn screening, Europe, ISNS, rare diseases}, chapternumber = {15} }
@article{article, author = {Loeber, J. Gerard and Platis, Dimitris and Zetterstr\"{o}m, Rolf H. and Almashanu, Shlomo and Boemer, Fran\c{c}ois and Bonham, James R. and Borde, Patricia and Brincat, Ian and Cheillan, David and Dekkers, Eugenie and Dimitrov, Dobry and Fingerhut, Ralph and Franzson, Leifur and Groselj, Urh and Hougaard, David and Knapkova, Maria and Kocova, Mirjana and Kotori, Vjosa and Kozich, Viktor and Kremezna, Anastasiia and Kurkij\"{a}rvi, Riikka and La Marca, Giancarlo and Mikelsaar, Ruth and Milenkovic, Tatjana and Mitkin, Vyacheslav and Moldovanu, Florentina and Ceglarek, Uta and O'Grady, Loretta and Oltarzewski, Mariusz and Pettersen, Rolf D. and Ramad\v{z}a, Danijela and Salimbayeva, Damilya and Samardzic, Mira and Shamsiddinova, Markhabo and Songailien\'{e}, Jurgita and Szatmari, Ildiko and Tabatadze, Nazi and Tezel, Basak and Toromanovic, Alma and Tovmasyan, Irina and Usurelu, Natalia and Vevere, Parsla and Vilarinho, Laura and Vogazianos, Marios and Yahyaoui, Raquel and Zeyda, Maximilian and Schielen, Peter C.J.I.}, year = {2021}, pages = {21}, DOI = {10.3390/ijns7010015}, chapter = {15}, keywords = {newborn screening, Europe, ISNS, rare diseases}, journal = {International journal of neonatal screening}, doi = {10.3390/ijns7010015}, volume = {7}, number = {1}, issn = {2409-515X}, title = {Neonatal screening in Europe revisited: An ISNS perspective on the current state and developments since 2010}, keyword = {newborn screening, Europe, ISNS, rare diseases}, chapternumber = {15} }

Časopis indeksira:


  • Web of Science Core Collection (WoSCC)
    • Emerging Sources Citation Index (ESCI)
  • Scopus

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