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Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou, Cristina; Ortigoza-Escobar, Juan D; O'Callaghan, Maria M; Nascimento, Andres; Darling, Alejandra; Pias-Peleteiro, Leticia; Perez-Dueñas, Belén; Pineda, Mercedes; Codina, Anna; Arjona, César; Armstrong, Judith; Palau, Francesc; Ribes, Antonia; Gort, Laura; Tort, Frederic; Navas, Placido; Ruiz-Pesini, Eduardo; Emperador, Sonia; Lopez-Gallardo, Ester; Bayona-Bafaluy, Pilar; Montero, Raquel; Jimenez-Mallebrera, Cecilia; Garcia-Cazorla, Angels; Montoya, Julio; Yubero, Delia; Artuch, Rafael.
Afiliación
  • Jou C; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. cjou@sjdhospitalbarcelona.org.
  • Ortigoza-Escobar JD; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. jortigoza@sjdhospitalbarcelona.org.
  • O'Callaghan MM; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. mocallaghan@sjdhospitalbarcelona.org.
  • Nascimento A; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. anascimento@sjdhospitalbarcelona.org.
  • Darling A; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. adarling@sjdhospitalbarcelona.org.
  • Pias-Peleteiro L; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. lpias@sjdhospitalbarcelona.org.
  • Perez-Dueñas B; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. belen.perez@vhir.org.
  • Pineda M; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. pineda@sjdhospitalbarcelona.org.
  • Codina A; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. acodina@fsjd.org.
  • Arjona C; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. carjona@fsjd.org.
  • Armstrong J; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. jarmstrong@sjdhospitalbarcelona.org.
  • Palau F; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. fpalau@sjdhospitalbarcelona.org.
  • Ribes A; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER-ISCIII, 08028 Barcelona, Spain. ARIBES@clinic.cat.
  • Gort L; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER-ISCIII, 08028 Barcelona, Spain. LGORT@clinic.cat.
  • Tort F; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER-ISCIII, 08028 Barcelona, Spain. FTORT@ciberer.es.
  • Navas P; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide and CIBERER-ISCIII, 41013 Sevilla, Spain. pnavas@upo.es.
  • Ruiz-Pesini E; Departamento de Bioquímica, Biología Molecular y Celular, Instituto de investigación Sanitaria de Aragón and CIBERER-ISCIII, Universidad de Zaragoza, 50013 Zaragoza, Spain. eduruiz@unizar.es.
  • Emperador S; Departamento de Bioquímica, Biología Molecular y Celular, Instituto de investigación Sanitaria de Aragón and CIBERER-ISCIII, Universidad de Zaragoza, 50013 Zaragoza, Spain. seortiz@unizar.es.
  • Lopez-Gallardo E; Departamento de Bioquímica, Biología Molecular y Celular, Instituto de investigación Sanitaria de Aragón and CIBERER-ISCIII, Universidad de Zaragoza, 50013 Zaragoza, Spain. esterlop@unizar.es.
  • Bayona-Bafaluy P; Departamento de Bioquímica, Biología Molecular y Celular, Instituto de investigación Sanitaria de Aragón and CIBERER-ISCIII, Universidad de Zaragoza, 50013 Zaragoza, Spain. pbayona@unizar.es.
  • Montero R; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. rmontero@sjdhospitalbarcelona.org.
  • Jimenez-Mallebrera C; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. cjimenezm@fsjd.org.
  • Garcia-Cazorla A; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. agarcia@sjdhospitalbarcelona.org.
  • Montoya J; Departamento de Bioquímica, Biología Molecular y Celular, Instituto de investigación Sanitaria de Aragón and CIBERER-ISCIII, Universidad de Zaragoza, 50013 Zaragoza, Spain. jmontoya@unizar.es.
  • Yubero D; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. dyubero@sjdhospitalbarcelona.org.
  • Artuch R; Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain. rartuch@sjdhospitalbarcelona.org.
J Clin Med ; 8(1)2019 Jan 10.
Article en En | MEDLINE | ID: mdl-30634555
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Risk_factors_studies Idioma: En Revista: J Clin Med Año: 2019 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Risk_factors_studies Idioma: En Revista: J Clin Med Año: 2019 Tipo del documento: Article