ARCHIMEDlife @ MSACL Salzburg: Mass Spectrometry Applications to Clinical Lab, 10.- 14.9.17

13. September 2017

We are proud to be a regular part of MSACL –  this year in Salzburg from 10.- 14. September...

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Congenital toxoplasmosis in Austria: Prenatal screening for prevention is cost-saving

10. Juli 2017

Background:  Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious...

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Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

5. Juli 2017

Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA)...

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Metabolic progression to clinical phenotype in classic Fabry disease

3. Januar 2017

Background: Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of...

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The Austrian Toxoplasmosis Register

15. Januar 2015

BACKGROUND: We aimed to determine the incidence of primary gestational infections with Toxoplasma gondii and congenital toxoplasmosis in Austria, a...

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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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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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