Quantification of excess risk for diabetes for those born in times of hunger, in an entire population of a nation, across a century

4. März 2013

Based on a unique dataset comprising all 325,000 Austrian patients that were under pharmaceutical treatment for diabetes during 2006...

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Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening

1. November 2012

The interest in early detection strategies for lysosomal storage disorders (LSDs) in newborns and high-risk population has increased in...

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Small sizes and indolent evolutionary dynamics challenge the potential role of P2RY8-CRLF2-harboring clones as main relapse-driving force in childhood ALL

22. Oktober 2012

The P2RY8-CRLF2 fusion defines a particular relapse-prone subset of childhood ALL in AIEOP-BFM 2000 protocols. To investigate whether and...

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Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine

16. August 2012

Abstract: Newborn screening for tyrosinemia type I (Tyr-I) is mandatory to identify infants at risk before life-threatening symptoms occur....

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The predictive value of immature granulocyte count and immature myeloid information in the diagnosis of neonatal sepsis

23. Februar 2012

Background: To determine the predictive value of the immature granulocyte count and the immature myeloid information in neonatal early onset...

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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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