“My dream is to not have to be on a diet”: a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective

Abstract Background Patients with classical homocystinuria (HCU) are unable to metabolize homocysteine and rely on dietary treatment to reduce their risk of complications (e.g., thromboembolism, cognitive impairment). Little is known about how patients are affected by their HCU disease experience. M...

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Principais autores:	Robin Pokrzywinski, Danaé Bartke, Claudine Clucas, Kathy Machuzak, Lionel Pinto
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2025-03-01
Serija:	Orphanet Journal of Rare Diseases
Teme:	Classical homocystinuria Cystathionine beta-synthase deficiency Homocysteine Homocystinuria Patient perspective Qualitative interviews
Online dostop:	https://doi.org/10.1186/s13023-025-03576-9
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