Monitoring of patients with inherited metabolic disorders (IMDs) using dried blood spot
(DBS) specimens has been routinely used since the inception of newborn screening (NBS) …

Dried blood spots (DBS) sampling and their specific advantages are becoming common in
analytical and clinical routine. Being first established for metabolic disorder screening in …

Early detection of many disorders, mainly inherited, is feasible with population-wide analysis
of newborn dried blood spot samples. Phenylketonuria was the prototype disorder for …

Background: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn
screening programs to screen dried blood spots for> 20 markers of disease in a single …

Newborn screening (NBS) by tandem mass spectrometry started in Galicia (Spain) in 2000.
We analyse the results of screening and clinical follow-up of inborn errors of metabolism …

BACKGROUND: Although extended newborn screening (NBS) programs have been
introduced more than 20 years ago, their impact on the long-term clinical outcome of …

Newborn screening is important for the early detection of many congenital genetic and
metabolic disorders, aimed at the earliest possible recognition and management of affected …

This literature review highlights recent advances and challenges in applying dried blood
spots (DBS) as a cumulative technique for sample acquisition, transport, archiving, and …

Background Developments in screening technology and increased understanding of the
natural history and treatment of inborn errors of metabolism (IEMs) have produced pressure …

Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …