Austrian Newborn Screening Program: A perspective of five decades

13. November 2014

In 1966, the National Austrian Newborn Screening Program for inherited metabolic and endocrine disorders was initiated. In the last...

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MALDI Orbitrap mass spectrometry for fast and simplified analysis of novel street and designer drugs

22. März 2014

Background: New strategies of rapid high-throughput analysis of street drugs without time-consuming sample preparations are necessary due to the...

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Diagnosis and prevalence of Congenital Adrenal Hyperplasia (CAH) in Austrian children screened or not screened for CAH

3. Oktober 2013

Prevalence of Congenital Adrenal Hyperplasia (CAH) is not exactly known in Austria, a number of patients with CAH might not...

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Matrix-assisted laser desorption / ionization for simultaneous quantitation of (acyl-)carnitines and organic acids in dried blood spots

15. Juli 2013

Screening for inborn errors of metabolism using mass spectrometry is part of nationwide newborn screening programs and involves the...

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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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