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Clinical management of female patients with Fabry disease based on expert consensus

2025 . BRAND, Eva BRAND

A 360-degree perspective on adeno-associated virus (AAV)-based gene therapy for haemophilia: Insights from the physician, the nurse and the patient

2024 . Miesbach, Wolfgang | Mulders, Greta | Breederveld, Daan | Pinachyan, Karen | Le Quellec, Sandra | Pabinger, Ingrid

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem

2024 . Klein, Terri L. | Bender, J. | Bolton, S. | Collin-Histed, T. | Daher, A. | De Baere, L. | Dong, D. | Hopkin, J. | Johnson, J. | Lai, T. | Pavlou, M. | Schaller, T. | Žnidar, I.

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

2021 . Dworschak, Gabriel | Reutter, Heiko M. | Ludwig, Michael

Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update

2021 . Schätzl, Teresa | Kaiser, Lars | Deigner, Hans-Peter

Revesz syndrome revisited

2020 . Karremann, Michael | Neumaier-Probst, Eva | Schlichtenbrede, Frank | Beier, Fabian | Brümmendorf, Tim H. | Cremer, Friedrich W. | Bader, Peter | Dürken, Matthias

Diagnosis of Rare Diseases: a scoping review of clinical decision support systems

2020 . Schaaf, Jannik | Sedlmayr, Martin | Schaefer, Johanna | Storf, Holger

Therapeutic options for patients with rare rheumatic diseases: a systematic review and meta-analysis

2020 . Bender, Tim T. A. | Leyens, Judith | Sellin, Julia | Kravchenko, Dmitrij | Conrad, Rupert | Dr. Mücke, Martin | Seidel, Matthias F.