Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria

29. November 2011

Background: The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement...

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Simplified newborn screening protocol for lysosomal storage disorders

1. September 2011

BACKGROUND: Interest in lysosomal storage disorders, a collection of more than 40 inherited metabolic disorders, has increased because of new...

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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

1. März 2011

ABSTRACT: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative...

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

15. Oktober 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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