The combined use of multiple omics allows to study complex interrelated biological
processes in their entirety. We applied a combination of metabolomics, lipidomics and …

Данные клинические рекомендации подготовлены совместно с Всероссийской
ассоциацией для больных муковисцидозом, рассмотрены и утверждены на заседании …

Background: Newborn screening comprises a paramount public health program seeking
timely detection, diagnosis, and intervention for genetic disorders that may otherwise …

Inherited metabolic diseases (IMDs) are a large group of rare genetic diseases. The
spectrum and incidences of IMDs differ among populations, which has been well …

The use of specialized centers has been the main alternative for an appropriate diagnosis,
management and follow up of patients affected by inborn errors of metabolism (IEM). These …

Organic acidurias and aminoacidopathies are groups of frequent inborn errors of
metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of …

The combined use of multiple omics methods to answer complex system biology questions
is growing in biological and medical sciences, as the importance of studying interrelated …

Aim To study the clinical and metabolic presentation, management with immediate and long
term outcome of symptomatic children with confirmed OA. Materials and Methods Hospital …

Background Organic acidurias are a group of inborn errors of metabolism. They present a
significant diagnostic challenge and are associated with serious morbidity and mortality …

Maple syrup urine disease (MSUD) is predominantly caused by mutations in the BCKDHA,
BCKDHB and DBT genes, which encode for the E1α, E1β and E2 subunits of the branched …