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

Cristina Domínguez-GonzálezMarcos Madruga-GarridoMichio HiranoItxaso MartíMiguel A MartínFrancina MunellAndrés NascimentoMontse OlivéJoanne QuanM Dolores SardinaRamon MartíCarmen Paradas

Published in: Orphanet journal of rare diseases (2021)

The Spanish experience in diagnosis and treatment of TK2d is a model for the diagnosis and development of new treatments for very rare diseases within an existing healthcare system.

Keyphrases

quality improvement
tyrosine kinase
protein kinase
replacement therapy