News and Publications
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Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening
The interest in early detection strategies for lysosomal storage disorders (LSDs) in newborns and high-risk population has increased in the last years due to the… 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
The P2RY8-CRLF2 fusion defines a particular relapse-prone subset of childhood ALL in AIEOP-BFM 2000 protocols. To investigate whether and to what extent different clone sizes… Read more
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Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine
Publications August 16, 2012Abstract: Newborn screening for tyrosinemia type I (Tyr-I) is mandatory to identify infants at risk before life-threatening symptoms occur. The analysis of tyrosine alone is… Read more -
The predictive value of immature granulocyte count and immature myeloid information in the diagnosis of neonatal sepsis
Background: To determine the predictive value of the immature granulocyte count and the immature myeloid information in neonatal early onset sepsis we examined 133 blood samples… Read more -
Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria
Background: The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement therapies, the need for early diagnosis,… Read more -
Simplified newborn screening protocol for lysosomal storage disorders
BACKGROUND: Interest in lysosomal storage disorders, a collection of more than 40 inherited metabolic disorders, has increased because of new therapy options such as enzyme replacement,… Read more