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Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
Domínguez-González, Cristina; Hernández-Laín, Aurelio; Rivas, Eloy; Hernández-Voth, Ana; Sayas Catalán, Javier; Fernández-Torrón, Roberto; Fuiza-Luces, Carmen; García García, Jorge; Morís, Germán; Olivé, Montse; Miralles, Frances; Díaz-Manera, Jordi; Caballero, Candela; Méndez-Ferrer, Bosco; Martí, Ramon; García Arumi, Elena; Badosa, María Carmen; Esteban, Jesús; Jimenez-Mallebrera, Cecilia; Encinar, Alberto Blazquez; Arenas, Joaquín; Hirano, Michio; Martin, Miguel Ángel; Paradas, Carmen.
Afiliação
  • Domínguez-González C; Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain.
  • Hernández-Laín A; Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain.
  • Rivas E; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Hernández-Voth A; Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain.
  • Sayas Catalán J; Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain.
  • Fernández-Torrón R; Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain.
  • Fuiza-Luces C; Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain.
  • García García J; Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain.
  • Morís G; Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain.
  • Olivé M; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Miralles F; Mitochondrial and Neuromuscular Diseases Laboratory, Research Institute of Hospital '12 de Octubre' ('i+12'), Madrid, Spain.
  • Díaz-Manera J; Neurology Department, Hospital de Albacete, Albacete, Spain.
  • Caballero C; Neurology Department, Neuromuscular disorders Unit, Hospital Central de Asturias, Oviedo, Spain.
  • Méndez-Ferrer B; Pathological Anatomy Department, Neuromuscular disorders unit, IDIBELL-Hospital de Bellvitge, Barcelona, Spain.
  • Martí R; Neurology department, Neuromuscular disorders unit, Hospital Universitari Son Espases, Palma, Spain.
  • García Arumi E; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Badosa MC; Neurology department, Neuromuscular disorders unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.
  • Esteban J; Respiratory Department, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, CIBERES, Universidad de Sevilla, Sevilla, Spain.
  • Jimenez-Mallebrera C; Rehabilitation Department, Hospital Virgen del Rocio, Sevilla, Spain.
  • Encinar AB; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Arenas J; Neuromuscular Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Hirano M; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Martin MÁ; Research group on Neuromuscular and Mitochondrial Diseases, Valld'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Paradas C; Neuromuscular Unit, Neurology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.
Orphanet J Rare Dis ; 14(1): 100, 2019 05 06.
Article em En | MEDLINE | ID: mdl-31060578
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Timidina Quinase / Miopatias Mitocondriais Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Timidina Quinase / Miopatias Mitocondriais Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Espanha