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

Abstract: 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

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

ABSTRACT: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort. Cumulative percentiles of amino acids… Read more

The national Austrian newborn screening program – eight years experience with mass spectrometry. past, present, and future goals

BACKGROUND: the National Austrian Newborn Screening Program for inherited metabolic and endocrinologic disorders was introduced in 1966. The program continuously evolved by expanding the screening panel… Read more