Under its EU presidency, Slovenia is spearheading an initiative designed to enhance cooperation and equity in provision of newborn and FH paediatric screening within the EU.
Under its EU presidency, Slovenia is spearheading an initiative designed to enhance cooperation and equity in provision of newborn and FH paediatric screening within the EU.
A survey study, relating to the perception of social and medical assistance in the daily life of rare metabolic patients.
New study: Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.
Some exciting news to share! MetabERN and Medics4RareDiseases are eager to combine their efforts, establishing future collaboration.
The IEMbase announced the creation of the IEMbase mobile app version 1.0, which is now available for Android and Apple devices.
The programme is beginning. The ERN Exchange Programme aims at harmonising specific knowledge within the ERNs and reducing gaps in expertise.
An emergency letter and knowing how to use it can prevent life-threatening situations and will optimize communications between parents and doctors.
Weber Shandwick, in collaboration with EU patient groups, trade associations and policy-makers has produced a set of 10 principles and actions.
‘Un Amico Raro’, the special episode of the animated tv series “Leo da Vinci” broadcast on Rai Ragazzi, depicts the story of a young kid living in the 16th century suffering from Anderson-Fabry disease.
European Reference Networks (ERNs) were founded on the principle that many rare disease (RD) issues are pan-European and any single Member State cannot solve them alone.