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10th Anniversary National Conference for Rare Diseases and Orphan Drugs

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The role of patient organizations in the rare disease ecosystem in India

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EU cross-border healthcare: better management needed to deliver on high ambitions

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The natural history of classic galactosemia

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An Opera Singer’s Voice Mutation over Time Due to Acromegaly

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Diamond-Blackfan anemia

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Laboratory Monitoring in Emicizumab-Treated Persons with Hemophilia A

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Rare ophthalmology diseases

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10th Anniversary National Conference for Rare Diseases and Orphan Drugs

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Clinical practice recommendations for growth hormone treatment in children with chronic kidney disease

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Current practices for the genetic diagnosis of autoinflammatory diseases

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Hereditary Angio-Oedema for Dermatologists

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Castleman’s disease associated with calcifying fibrous tumor

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A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4

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Research activity and capability in the European reference network MetabERN

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