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Efficacy and outcome of expanded newborn screening for metabolic diseases: report of 10 years from South-West Germany

National newborn screening programmes based on tandem-mass spectrometry (MS/MS) and other newborn screening (NBS) technologies show a substantial variation in number and types of disorders included in the screening panel. Once established, these methods offer the opportunity to extend newborn screen...

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Hauptverfasser: Lindner, Martin (VerfasserIn) , Gramer, Gwendolyn (VerfasserIn) , Haege, Gisela (VerfasserIn) , Fang-Hoffmann, Junmin (VerfasserIn) , Schwab, Karl O. (VerfasserIn) , Tacke, Uta (VerfasserIn) , Trefz, Friedrich K. (VerfasserIn) , Mengel, Eugen (VerfasserIn) , Wendel, Udo (VerfasserIn) , Leichsenring, Michael (VerfasserIn) , Burgard, Peter (VerfasserIn) , Hoffmann, Georg F. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2011
In: Orphanet journal of rare diseases
Year: 2011, Jahrgang: 6, Pages: 1-10
ISSN:1750-1172
DOI:10.1186/1750-1172-6-44
Online-Zugang:Verlag, kostenfrei, Volltext: https://doi.org/10.1186/1750-1172-6-44
Verlag, kostenfrei, Volltext: https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-44
Volltext
Verfasserangaben:Martin Lindner, Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Karl O. Schwab, Uta Tacke, Friedrich K. Trefz, Eugen Mengel, Udo Wendel, Michael Leichsenring, Peter Burgard, and Georg F. Hoffmann
Beschreibung
Zusammenfassung:National newborn screening programmes based on tandem-mass spectrometry (MS/MS) and other newborn screening (NBS) technologies show a substantial variation in number and types of disorders included in the screening panel. Once established, these methods offer the opportunity to extend newborn screening panels without significant investment and cost. However, systematic evaluations of newborn screening programmes are rare, most often only describing parts of the whole process from taking blood samples to long-term evaluation of outcome.
Beschreibung:Gesehen am 14.09.2022
Beschreibung:Online Resource
ISSN:1750-1172
DOI:10.1186/1750-1172-6-44

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