-
Autor
Battelino, Tadej 1 Bonham, James R 1 Bottarelli, Valentina 1 Cheillan, David 1 Dekkers, Eugenie 1 Groselj, Urh 1 Gumus, Gulcin 1 Kožich, Viktor 1 Kölker, Stefan 1 Le Cam, Yann 1 Prevot, Johan 1 Scarpa, Maurizio 1 Schielen, Peter C J I 1 Sikonja, Jaka 1 Zetterström, Rolf H 1 la Marca, Giancarlo 1 van der Burg, Mirjam 1
-
Pracoviště
Center for Inherited Metabolic Diseas... 1 Centre for Population Research Nation... 1 Department of Biochemistry and Molecu... 1 Department of Endocrinology Diabetes ... 1 Department of Experimental and Clinic... 1 Department of Molecular Medicine and ... 1 Department of Pediatrics and Inherite... 1 Division of Child Neurology and Metab... 1 EURORDIS Rare Diseases Europe 75014 P... 1 Faculty of Medicine University of Lju... 1 General University Hospital Prague Ke... 1 International Patient Organisation fo... 1 Laboratory for Pediatric Immunology D... 1 Newborn Screening Clinical Chemistry ... 1 Office of the International Society f... 1 Regional Coordinating Center for Rare... 1 Sheffield Children's NHS Foundation T... 1
- Formát
- Publikační typ
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
-
Autor
Battelino, Tadej 1 Bonham, James R 1 Bottarelli, Valentina 1 Cheillan, David 1 Dekkers, Eugenie 1 Groselj, Urh 1 Gumus, Gulcin 1 Kožich, Viktor 1 Kölker, Stefan 1 Le Cam, Yann 1 Prevot, Johan 1 Scarpa, Maurizio 1 Schielen, Peter C J I 1 Sikonja, Jaka 1 Zetterström, Rolf H 1 la Marca, Giancarlo 1 van der Burg, Mirjam 1
-
Pracoviště
Center for Inherited Metabolic Diseas... 1 Centre for Population Research Nation... 1 Department of Biochemistry and Molecu... 1 Department of Endocrinology Diabetes ... 1 Department of Experimental and Clinic... 1 Department of Molecular Medicine and ... 1 Department of Pediatrics and Inherite... 1 Division of Child Neurology and Metab... 1 EURORDIS Rare Diseases Europe 75014 P... 1 Faculty of Medicine University of Lju... 1 General University Hospital Prague Ke... 1 International Patient Organisation fo... 1 Laboratory for Pediatric Immunology D... 1 Newborn Screening Clinical Chemistry ... 1 Office of the International Society f... 1 Regional Coordinating Center for Rare... 1 Sheffield Children's NHS Foundation T... 1
- Formát
- Publikační typ
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
PubMed Central od 2018
ProQuest Central od 2020-01-01
Open Access Digital Library od 2015-01-01
Health & Medicine (ProQuest) od 2020-01-01
ROAD: Directory of Open Access Scholarly Resources od 2015
PubMed
35645285
DOI
10.3390/ijns8020031
Knihovny.cz E-zdroje
Although individual rare disorders are uncommon, it is estimated that, together, 6000+ known rare diseases affect more than 30 million people in Europe, and present a substantial public health burden. Together with the psychosocial burden on affected families, rare disorders frequently, if untreated, result in a low quality of life, disability and even premature death. Newborn screening (NBS) has the potential to detect a number of rare conditions in asymptomatic children, providing the possibility of early treatment and a significantly improved long-term outcome. Despite these clear benefits, the availability and conduct of NBS programmes varies considerably across Europe and, with the increasing potential of genomic testing, it is likely that these differences may become even more pronounced. To help improve the equity of provision of NBS and ensure that all children can be offered high-quality screening regardless of race, nationality and socio-economic status, a technical meeting, endorsed by the Slovenian Presidency of the Council of the European Union, was held in October 2021. In this article, we present experiences from individual EU countries, stakeholder initiatives and the meeting's final conclusions, which can help countries attempting to establish new NBS programmes or expand existing provision.
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Upřesnit dle MeSH
Sdílet
Název dokumentu
Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.