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European survey about Patients´ unmet need in medical research

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Self-help for improving the quality of life of people with rare diseases and their families

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New methods for health technology assessement

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Rare Diseases and Orphan Drugs

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Interactive alkaptonuria database

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Lanadelumab for the prevention of attacks in hereditary angioedema

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Molecular Approaches for the Treatment of Pompe Disease

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Clinical-therapeutic monitoring of a patient with transthyretin familial amyloid polyneuropathy

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European survey about Patients´ unmet need in medical research

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Management, employment categories and professional qualification of human resources at health technology assessment organizations

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Scope and objectives of health technology assessment organizations

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Epidemiology of Leber’s hereditary optic neuropathy

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Phenylketonuria, Co-morbidity and Ageing

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Clinical case – giant uterine leiomioma, mimicking an ovarian cancer

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Use of Genetics in the Management of Hereditary Angioedema

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