Medical device development and innovation for rare and pediatric populations: a global landscape overview.

Dystonia as an early and prominent feature in a patient with CYP2U1 gene mutation: expanding the phenotype of SPG56-a case report

A mixed methods study of the impact of WAGR spectrum disorder on individuals and their caregivers.

Determinants of health-related quality of life in adults with cystic fibrosis: the role of selected sociodemographic and treatment-related factors.

Neurological management and outcome measures in Fabry disease: consensus statements from the Italian Fabry disease neurological working group.

Casting light on the potential connection: exploring the relationship between periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome and Behҫet in the Druze population in Israel.

Medical device development and innovation for rare and pediatric populations: a global landscape overview.

Dystonia as an early and prominent feature in a patient with CYP2U1 gene mutation: expanding the phenotype of SPG56-a case report

A mixed methods study of the impact of WAGR spectrum disorder on individuals and their caregivers.

Determinants of health-related quality of life in adults with cystic fibrosis: the role of selected sociodemographic and treatment-related factors.

Neurological management and outcome measures in Fabry disease: consensus statements from the Italian Fabry disease neurological working group.

Casting light on the potential connection: exploring the relationship between periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome and Behҫet in the Druze population in Israel.