Newborn screening describes various tests that can occur during the first few hours or days
of a newborn's life and have the potential for preventing severe health problems, including …

Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly
successful procedure in secondary prevention. For a number of congenital disorders, severe …

Background The clinical presentation of patients with organic acidurias (OAD) and urea
cycle disorders (UCD) is variable; symptoms are often non‐specific. Aims/methods To …

Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for
phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded …

Background Newborn screening (NBS) for cystic fibrosis (CF) is a well-established public
health strategy with international standards. The aim of this study was to provide an update …

Abstract Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by
pathogenic variants in the gene encoding the enzyme glutaryl‐CoA dehydrogenase …

Screening for rare diseases first began more than 50 years ago with neonatal bloodspot
screening (NBS) for phenylketonuria, and carrier screening for Tay-Sachs disease, sickle …

The advent and refinement of sequencing technologies has resulted in a decrease in both
the cost and time needed to generate data on the entire sequence of the human genome …

Background The purpose of neonatal screening is the early detection of congenital
metabolic and endocrine disorders that, if untreated, could lead to fatal crises or other long …

Cystic fibrosis (CF) has been generally well defined throughout the world although its
prevalence is very difficult to ascertain for a number of reasons, including the fact that the …