Browsing by Author "Quan, Joanne"
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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Domínguez González, Cristina; Madruga Garrido, Marcos; Hirano, Michio; Martí Carrera, María Itxaso; Martín, Miguel A.; Munell, Francina; Nascimento, Andrés; Olivé, Montse; Quan, Joanne; Sardina, María Dolores; Martí, Ramón; Paradas, Carmen (BMC, 2021-10-02)[EN]Background: Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with ...