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 …

Rare genetic disorders, when considered together, are relatively common. Despite
advancements in genetics and genomics technologies as well as increased understanding …

Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

Abstract CTP: phosphoethanolamine cytidylyltransferase (ET), encoded by PCYT2, is the
rate-limiting enzyme for phosphatidylethanolamine synthesis via the CDP-ethanolamine …

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 Newborn screening (NBS) has been implemented for neonatal inborn disorders
using various technology platforms, but false-positive and false-negative results are still …

Inherited metabolic disorders (IMD) are rare medical conditions caused by genetic defects
that interfere with the body's metabolism. The clinical phenotype is highly variable and can …

Objectives Contrary to many western European countries, most south-eastern European
countries do not have an expanded newborn screening (NBS) program using tandem mass …

Inborn errors of purine and pyrimidine (P/P) metabolism are under-reported and rarely
mentioned in the general literature or in clinical practice, as well as in reviews dedicated to …

Advances in an early diagnosis by expanded newborn screening (NBS) have been
achieved mainly in developed countries, while populations of middle-and low-income …