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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, Itxaso; Martín, Miguel A; Munell, Francina; Nascimento, Andrés; Olivé, Montse; Quan, Joanne; Sardina, M Dolores; Martí, Ramon; Paradas, Carmen.
Afiliação
  • Domínguez-González C; Neuromuscular Disorders Unit, Neurology Department, Hospital 12 de Octubre, Madrid, Spain.
  • Madruga-Garrido M; Instituto de Investigación imas12, Hospital 12 de Octubre, Madrid, Spain.
  • Hirano M; Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Martí I; Pediatric Neurology Department, Hospital U. Virgen del Rocío, Seville, Spain.
  • Martín MA; Neurology Department, H. Houston Merritt Center, Columbia University Irving Medical Center, New York, NY, USA.
  • Munell F; Pediatric Department, Donostia University Hospital, Biodonostia Health Research Institute, University of the Basque Country, San Sebastián, Spain.
  • Nascimento A; Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Olivé M; Mitochondrial Diseases Laboratory, Department of Biochemistry, Research Institute Hospital 12 de Octubre (imas12), Madrid, Spain.
  • Quan J; Pediatric Department, Vall d'Hebron Hospital, Barcelona, Spain.
  • Sardina MD; Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Martí R; Pediatric Department, Vall d'Hebron Hospital, Barcelona, Spain.
  • Paradas C; Neuromuscular Unit, Neurology Department, Sant Joan de Déu Research Institute, Sant Joan de Déu Hospital, Barcelona, Spain.
Orphanet J Rare Dis ; 16(1): 407, 2021 10 02.
Article em En | MEDLINE | ID: mdl-34600563
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Timidina Quinase / Doenças Raras / Modelos Animais de Doenças Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Timidina Quinase / Doenças Raras / Modelos Animais de Doenças Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article