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Patients’ lived experience of thymidine kinase 2 deficiency: the online survey-based assessment of TK2d patient perspectives study

Background: Thymidine kinase 2 deficiency (TK2d) is an ultra-rare autosomal recessive mitochondrial disease characterized by progressive myopathy. Objectives: To understand patient experiences and the impact of TK2d on patient quality of life (QoL), and to explore support needs. Design: A cross-sect...

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Principais autores: Amel Karaa, Asha Hareendran, Katie Waller, Philip Yeske, Alexandra Morrison, Marnie Ross, Cristy Balcells
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publishing 2026-07-01
Colecção:Therapeutic Advances in Rare Disease
Acesso em linha:https://doi.org/10.1177/26330040261469197
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