All Articles

The European joint programme on rare diseases: building the rare diseases research ecosystem

Newborn screening in South Africa: the past, present, and plans for the future

Framing the European Rare Diseases field through a structured movement of patient organisations

The complexity of funding rare disease research: an IRDiRC assessment of the landscape

Fabry nephropathy: a treatable cause of chronic kidney disease

Review of methods for estimating the prevalence of rare diseases

Newborn screening in Mexico and Latin America: present and future

The inflammatory pathogenetic pathways of Fabry nephropathy

Investigating Fabry disease - some lessons learned

Gene therapy for Dravet syndrome: promises and impact on disease trigger and secondary modifications

Neuropathy and pain in Fabry disease

Paradox of possibilities: the rare landscape in the Asia Pacific Region

ERCAL, a regional initiative for rare diseases in Latin America and the Caribbean

Electroencephalogram (EEG) network-level excitation-inhibition in GRIN2B-related neurodevelopmental disorders: a pilot case-control series

Longitudinal biomarker evaluation in Fabry disease patients receiving lentivirus-mediated gene therapy

The division of rare diseases research innovation at the national center for advancing translational sciences, NIH: mission, history, and current research activities

Biomarkers in anderson-Fabry disease: what should we use in the clinical practice?

Gastrointestinal involvement in Fabry disease