ArticleJournal of clinical medicine2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
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Article in Journal of clinical medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6citing papers in PubMed
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Who cites it
6 citing papers in PubMed, 16 citations in OpenAlex.
- Article
- Case report: A novelFrontiers in genetics · 2023Article
- Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.Molecular genetics and metabolism reports · 2021Article
- Mitochondrial Syndromes Revisited.Journal of clinical medicine · 2021Review
- Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients WithFrontiers in pharmacology · 2021Article
- Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome.Frontiers in genetics · 2019Article
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Authors and funding
26 authors at 3 institutions in 1 country.
Cristina JouClinical 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.
Juan D Ortigoza-EscobarClinical 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.
Maria M O'CallaghanClinical 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.
Andres NascimentoClinical 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.
Alejandra DarlingClinical 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.
Leticia Pias-PeleteiroClinical 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.
Belén Perez-DueñasClinical 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.
Mercedes PinedaClinical 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.
Anna CodinaClinical 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.
César ArjonaClinical 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.
Judith ArmstrongClinical 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.
Francesc PalauClinical 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.
Antonia RibesSecció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER-ISCIII, 08028 Barcelona, Spain. ARIBES@clinic.cat.
Laura GortSecció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER-ISCIII, 08028 Barcelona, Spain. LGORT@clinic.cat.ORCID 0000-0003-4746-1034
Frederic TortSecció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER-ISCIII, 08028 Barcelona, Spain. FTORT@ciberer.es.
Placido NavasCentro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide and CIBERER-ISCIII, 41013 Sevilla, Spain. pnavas@upo.es.
Eduardo Ruiz-PesiniDepartamento de Bioquímica, Biología Molecular y Celular, Instituto de investigación Sanitaria de Aragón and CIBERER-ISCIII, Universidad de Zaragoza, 50013 Zaragoza, Spain. eduruiz@unizar.es.
Sonia EmperadorDepartamento de Bioquímica, Biología Molecular y Celular, Instituto de investigación Sanitaria de Aragón and CIBERER-ISCIII, Universidad de Zaragoza, 50013 Zaragoza, Spain. seortiz@unizar.es.
Ester Lopez-GallardoDepartamento de Bioquímica, Biología Molecular y Celular, Instituto de investigación Sanitaria de Aragón and CIBERER-ISCIII, Universidad de Zaragoza, 50013 Zaragoza, Spain. esterlop@unizar.es.
Pilar Bayona-BafaluyDepartamento de Bioquímica, Biología Molecular y Celular, Instituto de investigación Sanitaria de Aragón and CIBERER-ISCIII, Universidad de Zaragoza, 50013 Zaragoza, Spain. pbayona@unizar.es.
Raquel MonteroClinical 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.
Cecilia Jimenez-MallebreraClinical 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.
Angels Garcia-CazorlaClinical 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.
Julio MontoyaDepartamento de Bioquímica, Biología Molecular y Celular, Instituto de investigación Sanitaria de Aragón and CIBERER-ISCIII, Universidad de Zaragoza, 50013 Zaragoza, Spain. jmontoya@unizar.es.
Delia YuberoClinical 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.
Rafael ArtuchClinical 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.
Hospital Sant Joan de Déu Barcelona · ESInstituto de Salud Carlos III · ESUniversidad de Zaragoza · ES
Funding
Fundación Mutua Madrileña MMA17/01Instituto de Salud Carlos III PI15/01082Instituto de Salud Carlos III PI17/00021Instituto de Salud Carlos III PI17/00109Instituto de Salud Carlos III PI17/01286
Abstract
Mitochondrial diseases (MD) are a group of genetic and acquired disorders which present significant diagnostic challenges. Here we report the disease characteristics of a large cohort of pediatric MD patients (
Indexed as
biochemical markersmitochondrial diseasesmuscle histopathologymyopathynext generation sequencingpediatric patients
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