TY  - GEN
AU  - Dominguez-Gonzalez, Cristina
AU  - Madruga-Garrido, Marcos
AU  - Hirano, Michio
AU  - Marti, Itxaso
AU  - Martin, Miguel A
AU  - Munell, Francina
AU  - Nascimento, Andres
AU  - Olive, Montse
AU  - Quan, Joanne
AU  - Sardina, M Dolores
AU  - Marti, Ramon
AU  - Paradas, Carmen
PY  - 2021
DO  - 10.1186/s13023-021-02030-w
UR  - https://hdl.handle.net/10668/27812
T2  - Orphanet journal of rare diseases
AB  - 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...
LA  - en
PB  - BioMed Central Ltd.
KW  - Mitochondrial disease
KW  - Mitochondrial medicine
KW  - Thymidine kinase 2 deficiency (TK2d)
KW  - Animals
KW  - Disease Models, Animal
KW  - Humans
KW  - Mice
KW  - Rare Diseases
KW  - Retrospective Studies
KW  - Spain
KW  - Thymidine Kinase
TI  - Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
TY  - Review
VL  - 16
ER  -