Experiences of living with GSD5 (McArdle) disease: challenges and strategies. A qualitative study in the Netherlands
Early diagnosis and tailored management strategies are critical for improving outcomes and quality of life in individuals with GSD5. Timely diagnosis and comprehensive multidisciplinary care are essential for effectively managing the complexities of this rare metabolic disorder.
Authors
- Roel van Oorsouw (ORCID: https://orcid.org/0000-0002-8328-4277)
- Nicol Cornelia Voermans (ORCID: https://orcid.org/0000-0002-5837-7295)
- Daphne Maas (ORCID: https://orcid.org/0000-0002-8015-256X)
- Edith H. C. Cup (ORCID: https://orcid.org/0000-0003-3452-9650)
- Ronne Pater (ORCID: https://orcid.org/0009-0001-3985-8923)
- Andrew Wakelin (ORCID: https://orcid.org/0000-0003-0528-2206)
- Nicoline Voet (ORCID: https://orcid.org/0000-0001-7381-2817)
- Bart Bloemen (ORCID: https://orcid.org/0000-0001-8856-2216)
- S. Reason (ORCID: https://orcid.org/0000-0002-4103-4560)
- Walaa Karazi (ORCID: https://orcid.org/0009-0001-2627-0506)
- Jan T. Groothuis (ORCID: https://orcid.org/0000-0003-3436-2475)
- Salman Bhai (ORCID: https://orcid.org/0000-0003-4702-9380)
- Ros Quinlivan (ORCID: https://orcid.org/0000-0001-5976-4708)
Institutions
- Radboud University Nijmegen (NL)
- University of Bamenda (CM)
- University Medical Center (US)
- Radboud University Medical Center (NL)
- ISCO International (United States) (US)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- Disability and Rehabilitation
- Published
- 2024-11-11
- DOI
- https://doi.org/10.1080/09638288.2024.2424439
- Citations
- 1
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- Stichting Metakids
- Radboud Universitair Medisch Centrum