Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set
An international consensus-based standard set of person-centered health outcomes for liver GSD was developed to apply in health care, registries, and clinical trials.
Authors
- Jamas LaFreniere
- Ruben J. Overduin (ORCID: https://orcid.org/0009-0005-9761-7502)
- Frederiec K. Withaar
- Hanka Dekker
- Sarah C. Grünert (ORCID: https://orcid.org/0000-0001-5986-0468)
- Marieke J. Fokkert‐Wilts
- Terry G. J. Derks (ORCID: https://orcid.org/0000-0002-7259-1095)
- David A. Weinstein (ORCID: https://orcid.org/0000-0002-1341-9367)
- Alessandro Rossi (ORCID: https://orcid.org/0000-0002-1689-4948)
- Andrea B. Schreuder (ORCID: https://orcid.org/0000-0002-9050-5808)
- Melanie M. van der Klauw (ORCID: https://orcid.org/0000-0001-7178-009X)
- Enrique Contreras
- Gayle W Temkin
- Blair Stone-Schneider
- Frédéric Vanneste
Institutions
- St. Andrews University (US)
- Center for Global Development (US)
- University Medical Center Groningen (NL)
- University of Connecticut (US)
- University Medical Center Freiburg (DE)
- Association of Dutch Burn Centres (NL)
- Association Pharmaceutique Belge (BE)
- Childrens Fund for Glycogen Storage Disease Research (US)
- Hope Foundation (US)
- UConn Health (US)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2025-09-24
- DOI
- https://doi.org/10.1016/j.gim.2025.101589
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00