The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals
@article{Kasper2010TheNA, title={The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals}, author={David C Kasper and Rene Ratschmann and Thomas F. Metz and Thomas P. Mechtler and Dorothea M{\"o}slinger and Vassiliki Konstantopoulou and Chike Bellarmine Item and Arnold Pollak and Kurt R. Herkner}, journal={Wiener klinische Wochenschrift}, year={2010}, volume={122}, pages={607-613} }
ZusammenfassungHINTERGRUND: Im Jahre 1966 wurde das österreichweite Neugeborenen Screening Programm zur Erkennung von angeborenen Stoffwechselerkrankungen und endokrinen Störungen eingeführt. Die Liste der gescreenten Erkrankungen wurde sukzessive erweitert und umfasst neben der Phenylketonurie und Galaktosämie, auch angeborene Hypothyreose, Biotinidasedefizienz, Cystische Fibrose und Adrenogenitales Syndrom. Im Jahre 2002 wurde die Tandem Massenspektrometrie (MS/MS) eingeführt. Somit konnte…
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