All Articles

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

Non-viral gene therapy for neuromuscular diseases including Duchenne muscular dystrophy using nanovesicles derived from human cells

Exploratory survey study on adjunctive use of medical cannabis for Gaucher disease

Patient organizations: advocating for timely newborn screening & improved quality of life

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

Fabry nephropathy: a treatable cause of chronic kidney disease

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

Neuropathy and pain in Fabry disease

Incorporating a new disease in the newborn screening programs in Europe: the spinal muscular atrophy case study

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

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

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

Long-term treatment with insulin-like growth factor-1 in Phelan-McDermid syndrome: a case report

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

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

The inflammatory pathogenetic pathways of Fabry nephropathy

Gastrointestinal involvement in Fabry disease