Most Cited Papers In Last Two Years

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

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

The inflammatory pathogenetic pathways of Fabry nephropathy

Fabry nephropathy: a treatable cause of chronic kidney disease

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

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

Newborn screening in Mexico and Latin America: present and future

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

Gastrointestinal involvement in Fabry disease

Investigating Fabry disease - some lessons learned

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

Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative

Cerebrovascular disorders and Fabry disease

Review of methods for estimating the prevalence of rare diseases

Management of sleep problems in people with autism: an updated review

Bumetanide to treat autism spectrum disorders: are complex administrative regulations fit to treat heterogeneous disorders?