Metabonomics of newborn screening dried blood spot samples: a novel approach in the screening and diagnostics of inborn errors of metabolism
J Denes, E Szabo, SL Robinette, I Szatmári… - Analytical …, 2012 - ACS Publications
A novel, single stage high resolution mass spectrometry-based method is presented for the
population level screening of inborn errors of metabolism. The approach proposed here …
population level screening of inborn errors of metabolism. The approach proposed here …
Evaluation of a novel, commercially available mass spectrometry kit for newborn screening including succinylacetone without hydrazine
TF Metz, TP Mechtler, M Merk, A Gottschalk… - Clinica Chimica …, 2012 - Elsevier
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 limited, and might lead to …
life-threatening symptoms occur. The analysis of tyrosine alone is limited, and might lead to …
Newborn screening for phenylketonuria: Machine learning vs clinicians
The metabolic disorders may hinder an infant's normal physical or mental development
during the neonatal period. The metabolic diseases can be treated by effective therapies if …
during the neonatal period. The metabolic diseases can be treated by effective therapies if …