Rare diseases

6 Items

This section focuses on low‑prevalence conditions, addressing challenges in diagnosis, research, and treatment development, and highlighting innovative study designs, patient registries, regulatory pathways, and unmet clinical needs in rare and ultra‑rare diseases.

All Items

  • A case of hydralazine-induced bullous pemphigoid

    Paul Zammit
    14-15
    DOI: https://doi.org/10.33393/ao.2026.3710

  • Evolution of treatments for hereditary angioedema in Italy: use of lanadelumab in clinical practice

    Marta Nugnes, Melania Dovizio, Melania Leogrande, Luca Degli Esposti
    13-19
    DOI: https://doi.org/10.33393/ao.2025.3468

  • Sharing Diagnostic and Therapeutic Pathways in Pulmonary Arterial Hypertension: A Roadmap for the Triveneto Region

    Davide Stolfo, Nicoletta Bellini, Edoardo Bonsante, Giacomo Cavalli, Emma Di Poi, Mauro Driussi, Giulia Famoso, Irene Ferrari, Pietro Geri, Martina Perazzolo Marra, Claudio Picariello, Francesca Tedoldi, Elisa Tinazzi, Elisabetta Zanatta, Daniele Prati
    1-12
    DOI: https://doi.org/10.33393/ao.2025.3443

  • X-linked hypophosphatemic rickets: cases series and literature review with a focus on neurosurgical management

    Federico Baronio, Ferdinando Aliberti, Filomena Carfagnini, Giovanni Luigi Di Gennaro, Daniela Pasquali, Rossella Santoro, Giuseppe Toro, Mino Zucchelli, Anna Grandone
    35-42
    DOI: https://doi.org/10.33393/ao.2023.2513

  • Gene therapy and hospital pharmacy: the experience of the Hospital Pharmacy unit of L. Vanvitelli university hospital

    Giovanni Dubuis, Francesca Marrone, Francesco Russo, Stefania Ziccardi, Rosa Annibale
    74-80
    DOI: https://doi.org/10.33393/ao.2021.2260

  • Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice

    Emanuele Agolini, Roberto Chimenz, Danilo Fintini, Vito Guarnieri, Laura Guazzarotti, Stefano Mora, Leonardo Salviati, Giovanna Weber
    29-33
    DOI: https://doi.org/10.33393/ao.2021.2235