The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data
In summary, learnings from the past decade of the registry have improved the overall understanding of HPP in a wide patient population and may play an important role in improving disease recognition and diagnosis.
Authors
- Kathryn McCrystal Dahir (ORCID: https://orcid.org/0000-0002-9980-9138)
- Louise M. Burke (ORCID: https://orcid.org/0000-0001-8866-5637)
- Lothar Seefried (ORCID: https://orcid.org/0000-0003-1154-3388)
- William R. Mowrey (ORCID: https://orcid.org/0000-0001-9531-9409)
- Priya Sunil Kishnani (ORCID: https://orcid.org/0000-0001-8251-909X)
- Cheryl R. Greenberg (ORCID: https://orcid.org/0000-0002-4741-8442)
- D. K. Fowler (ORCID: https://orcid.org/0000-0002-7176-5612)
- Anna Petryk (ORCID: https://orcid.org/0000-0001-8017-0170)
- Agnès Linglart (ORCID: https://orcid.org/0000-0003-3455-002X)
- Eric T. Rush (ORCID: https://orcid.org/0000-0002-8147-7315)
- Gabriel Ángel Martos‐Moreno (ORCID: https://orcid.org/0000-0001-5524-2646)
- Peter R. Ebeling (ORCID: https://orcid.org/0000-0002-2921-3742)
- Keiichi Ozono (ORCID: https://orcid.org/0000-0002-6517-8825)
- Wolfgang Högler (ORCID: https://orcid.org/0000-0003-4328-6304)
- Shona Fang (ORCID: https://orcid.org/0009-0008-7019-5647)
Institutions
- Johannes Kepler University of Linz (AT)
- Children's Mercy Hospital (US)
- Inserm (FR)
- Duke University (US)
- University of Würzburg (DE)
- Université Paris-Saclay (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Boonton Public Schools (US)
- Hospital Infantil Universitario Niño Jesús (ES)
- Institut thématique Génétique, génomique et bioinformatique (FR)
- Duke Medical Center (US)
- AstraZeneca (Switzerland) (CH)
- AstraZeneca (Spain) (ES)
- AstraZeneca (United States) (US)
- Bicêtre Hospital (FR)
- University of Manitoba (CA)
- Alexion Pharma (Switzerland) (CH)
- Monash University (AU)
- Universidad Autónoma de Madrid (ES)
- University of Missouri–Kansas City (US)
- University of Birmingham (GB)
- Vanderbilt University Medical Center (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-11-24
- DOI
- https://doi.org/10.1186/s13023-025-04129-w
- Citations
- 1
- Primary Topic
- Alkaline Phosphatase Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.29