Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable
incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways …

Spinal muscular atrophy (SMA) is a neurodegenerative disease associated with severe
muscle atrophy and weakness in the limbs and trunk. We report interim efficacy and safety …

Government activities around NBS are increasing in India and there is increased emphasis
on pilot programs for sickle cell NBS in sub-Saharan Africa. Genetic counseling training in …

Importance Newborn genome sequencing (NBSeq) can detect infants at risk for treatable
disorders currently undetected by conventional newborn screening. Despite broad …

Background Newborn screening (NBS) is an important and successful public health
program that helps improve the long-term clinical outcomes of newborns by providing early …

To present our experience using a multiomic approach, which integrates genetic and
biochemical testing as a first-line diagnostic tool for patients with inherited metabolic …

Background The incidence of inborn errors of metabolism (IEM) varies across countries and
areas. Currently, there are no studies on IEM using newborn screening (NBS) in eastern …

The implementation of newborn screening for severe combined immunodeficiency (SCID) in
the Netherlands is a multifaceted process in which several parties are involved. The Dutch …

Knowledge about newborn screening (NBS) is an important factor for parents to make an
informed decision about participation. In Europe, countries inform parents differently about …

Abstract Children hospitalized in Neonatal Intensive Care Units (NICU) present an
increased risk for Sensorineural Hearing Loss (SNHL) due to prematurity, hypoxia-ischemia …