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

Domínguez-González, C., Madruga-Garrido, M., Hirano, M., Martí, I., Martín, M. A., Munell, F., Nascimento, A., Olivé, M., Quan, J., Sardina, M. D., Martí, R., & Paradas, C. (2021). Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency. Orphanet Journal of Rare Diseases, 16(1). https://doi.org/10.1186/s13023-021-02030-w
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
Affiliated Authors:
Michio Hirano
Columbia Affiliation:
Subjects:
Disease Models, Animal (MeSH)
Rare Diseases (MeSH)
Thymidine Kinase (MeSH)
Author Keywords:
mitochondrial disease
mitochondrial medicine
thymidine kinase 2 deficiency (tk2d)
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Publication Type:
Article
Unique ID:
10.1186/s13023-021-02030-w
PMID:
34600563
DOI:
10.1186/s13023-021-02030-w
Journal:
Orphanet Journal of Rare Diseases
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created: