Abstract The Urea Cycle Disorders Consortium (UCDC) and the European registry and
network for Intoxication type Metabolic Diseases (E‐IMD) are the worldwide largest …

In India, newborn screening (NBS) is essential for detecting health problems in infants.
Despite significant progress, significant gaps and challenges persist. India has made great …

Comprehensive whole-body models (WBMs) accounting for organ-specific dynamics have
been developed to simulate adult metabolism, but such models do not exist for infants. Here …

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

Driven by technological innovations, newborn screening (NBS) panels have been expanded
and the development of genomic NBS pilot programs is rapidly progressing. Decisions on …

Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr.
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …

Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disease increasingly included in
newborn screening (NBS) programs worldwide. Because of the broad biochemical spectrum …

Background Neonatal screening for inherited metabolic diseases (IMDs) has been
revolutionized by tandem mass spectrometry (MS/MS). This study aimed to enhance …

Background Methylmalonic acidemia (MMA) is one of the most common hereditary organic
acid metabolism disorders that endangers the lives and health of infants and children. Early …

In medical applications, artificial intelligence (AI) methods have achieved considerable
progress in various areas and also in newborn screening programs. In particular …