“My dream is to not have to be on a diet”: a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective
Most patients were burdened by adhering to dietary treatment and by symptoms that worsened when they did not adhere to treatment. These findings can be used to inform treatment goals and care to improve patients' everyday lives.
Authors
- Claudine Clucas (ORCID: https://orcid.org/0000-0002-8196-9686)
- Danaé Bartke
- Robin Pokrzywinski (ORCID: https://orcid.org/0000-0002-1781-8197)
- Lionel Pinto (ORCID: https://orcid.org/0000-0002-1443-493X)
- Kathy Machuzak
Institutions
- Therapeutics Clinical Research (US)
- Thermo Fisher Scientific (Israel) (IL)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-03-06
- DOI
- https://doi.org/10.1186/s13023-025-03576-9
- Citations
- 3
- Primary Topic
- Folate and B Vitamins Research
- Type
- article
- Field-Weighted Citation Impact
- 5.00