Rare diseases, such as inherited metabolic diseases, have been identified as a health
priority within the European Union more than 20 years ago and have become an integral …

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 …

Newborn screening (NBS) programs are effective measures of secondary prevention and
have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias …

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 …

Analytical and therapeutic innovations led to a continuous but variable extension of newborn
screening (NBS) programmes worldwide. Every extension requires a careful evaluation of …

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 …

The development and continuous optimization of newborn screening (NBS) programs
remains an important and challenging task due to the low prevalence of screened diseases …

Newborn screening (NBS) allows early identification of individuals with rare disease, such
as isovaleric aciduria (IVA). Reliable early prediction of disease severity of positively …

Background Neonatal screening in Germany currently comprises 19 congenital diseases, 13
of which are metabolic diseases. Approximately one in 1300 newborns suffers from one of …

Isovaleric aciduria (IVA) is a rare disorder of leucine metabolism and part of newborn
screening (NBS) programs worldwide. However, NBS for IVA is hampered by, first, the …