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Evidence evaluation in rare disease guidelines: a methodological perspective

Monoclonal gammopathies and their management in Gaucher disease type 1

A communication toolkit for the most impactful symptoms of Fabry disease: co-creation with Fabry disease patients and their treating clinicians in the UK

How did we move from the initial concept 24 years ago to the current understanding of treating patients with Fabry Disease? A narrative review and personal perspective

Organellar crosstalk as a potential therapeutic target for rare neurodegenerative diseases

A landscape map of the key global rare disease organizations

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

Fabry nephropathy: a treatable cause of chronic kidney disease

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

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

Review of methods for estimating the prevalence of rare diseases