Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

Abstract 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 mitochondrial disease typically experience delays in diagnosis and treatment. Her...

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Bibliographic Details
Main Authors: Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, Itxaso Martí, Miguel A. Martín, Francina Munell, Andrés Nascimento, Montse Olivé, Joanne Quan, M. Dolores Sardina, Ramon Martí, Carmen Paradas
Format: Article
Language:English
Published: BMC 2021-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mitochondrial disease
Mitochondrial medicine
Thymidine kinase 2 deficiency (TK2d)
Online Access:https://doi.org/10.1186/s13023-021-02030-w

Internet

https://doi.org/10.1186/s13023-021-02030-w

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