In the current genomic revolution, the infancy life stage is the most neglected. Although
clinical genetics recognizes the value of early identification in infancy of rare genetic causes …

Although individual rare disorders are uncommon, it is estimated that, together, 6000+
known rare diseases affect more than 30 million people in Europe, and present a substantial …

Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in
the expansion of the French newborn screening (NBS) program at the beginning of 2023 …

Phenylketonuria (PKU) was the first disease to be identified by the newborn screening
(NBS) program. Currently, there are various methods for determining phenylalanine (Phe) …

Introduction Newborn bloodspot screening (NBS) is a highly successful public health
programme that uses biochemical and other assays to screen for severe but treatable …

Determining the scope of a newborn screening program is a challenging health policy issue.
Our study aimed to explore the attitudes of specialists in pediatrics, neonatology, medical …

Objectives In this literature review, we describe the progress of Indonesia's NBS program
(which is heavily centered on CH screening), its current pilot projects, and what lies ahead …

In the Norwegian newborn screening (NBS) program, genetic testing has been implemented
as a second or third tier method for the majority of NBS disorders, significantly increasing …

Advances in genomic technology have generated possibilities for expanding newborn
screening from traditional procedures to genomic newborn screening (gNBS). However …

The introduction of tandem mass spectrometry (MS/MS) to clinical laboratories and the
advent of expanded newborn screening (NBS) were crucial changes to public health …