ARCHIMEDlife News

The national Austrian newborn screening program – eight years experience with mass spectrometry. past, present, and future goals

15. October 2010

BACKGROUND: the National Austrian Newborn Screening Program for inherited metabolic and endocrinologic disorders was introduced in 1966. The program continuously...

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Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-L-iduronidase mutations causing mucopolysaccharidosis type I

29. November 2009

Background: Mutations in the alpha-l-iduronidase A (IDUA) gene cause mucopolysaccharidosis type I (MPS I), a progressive multisystem disorder with...

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