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