State of the art management practices for liver glycogen storage disorders: Results from an international survey among metabolic centres
The development of a standard set of outcomes for patients with liver GSDs is warranted as a reference for both daily care and the evaluation of safety and efficacy of future therapies. For various parameters that serve as valuable outcome measures, tools and target values should be better defined.
Authors
- Sarah C. Grünert (ORCID: https://orcid.org/0000-0001-5986-0468)
- Terry G. J. Derks (ORCID: https://orcid.org/0000-0002-7259-1095)
- Alessandro Rossi (ORCID: https://orcid.org/0000-0002-1689-4948)
Institutions
- University of Vermont (US)
- Children's Hospital of Orange County (US)
- The Royal Melbourne Hospital (AU)
- University Medical Center Groningen (NL)
- Karolinska University Hospital (SE)
- Children's Hospital of Philadelphia (US)
- Inserm (FR)
- Medical University of Graz (AT)
- University Medical Center Freiburg (DE)
- Hospitais da Universidade de Coimbra (PT)
- Ege University (TR)
- BioCruces Health research Institute (ES)
- Newborn Screening Ontario (CA)
- General Practitioners Research Institute (NL)
- Centre Hospitalier Régional et Universitaire de Nancy (FR)
- Hôpital d'Enfants (FR)
- Institute of Public Health of Serbia (RS)
- Hospital Universitario Ramón y Cajal (ES)
- Nutrition-Génétique et Exposition aux Risques Environnementaux (FR)
- University of Naples Federico II (IT)
- Comenius University Bratislava (SK)
- University of Coimbra (PT)
- Royal College of General Practitioners (GB)
Publication Details
- Journal
- Molecular Genetics and Metabolism
- Published
- 2025-05-06
- DOI
- https://doi.org/10.1016/j.ymgme.2025.109129
- Citations
- 1
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 1.67