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

3. October 2013

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

Read more

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

15. July 2013

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

Read more

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

4. March 2013

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

Read more

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...

Read more

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

22. October 2012

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

Read more

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....

Read more

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

23. February 2012

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

Read more

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...

Read more

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...

Read more

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

1. March 2011

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

Read more