Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene,
is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. …

The 11 th International Conference on Rare Diseases and Orphan Drugs (ICORD), South
Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement …

New coronavirus SARS-CoV-2 is capable to infect humans and cause a novel disease
COVID-19. Aiming to understand a host genetic component of COVID-19, we focused on variants …

Background Phenylketonuria (PKU) is often considered as the classical example of a genetic
disorder in which severe symptoms can nowadays successfully be prevented by early …

We developed a series of interrelated locus-specific databases to store all published and
unpublished genetic variation related to hemoglobinopathies and thalassemia and …

Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity
with the underlying genetic composition, particularly in genes encoding for protein factors …

Background Osteoarthritis (OA) is a chronic degenerative joint disease and is considered to
be the fourth leading cause of disability and the second cause of inability to work in men. …

The aim of our study was to assess the current state of newborn screening (NBS) in the
region of southeastern Europe, as an example of a developing region, focusing also on future …

Background We aimed to assess the current state of PKU screening and management in
the region of southeastern Europe. Methods A survey was performed involving all identified …

Background: Perthes disease is a juvenile form of osteonecrosis of the femoral head that
affects children under the age of 15. One hundred years after its discovery, some light has been …