Brea Calvo, Gloria Teresa

Profesor/a Contratado Doctor
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First Name
Gloria Teresa
Last Name
Brea Calvo
Universidad Pablo de Olavide
Fisiología, Anatomía y Biología Celular
Research Center
Biología Celular
Research Group
Fisiología y Bioquímica del Crecimiento Celular
Biología y Biotecnología
PhD programs
Biología Celular, Molecular e Ingeniería Genética
UPO investigaORCIDScopus Author IDDialnet IDGoogle Scholar ID

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  • Publication
    Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations
    (Elsevier, 2021-03-04) Alcázar Fabra, María; Rodríguez-Sánchez, Francisco; Trevisson, Eva; Brea Calvo, Gloria Teresa
    Primary Coenzyme Q (CoQ) deficiencies are clinically heterogeneous conditions and lack clear genotypephenotype correlations, complicating diagnosis and prognostic assessment. Here we present a compilation of all the symptoms and patients with primary CoQ deficiency described in the literature so far and analyse the most common clinical manifestations associated with pathogenic variants identified in the different COQ genes. In addition, we identified new associations between the age of onset of symptoms and different pathogenic variants, which could help to a better diagnosis and guided treatment. To make these results useable for clinicians, we created an online platform (https://coenzymeQbiology.github. io/clinic-CoQ-deficiency) about clinical manifestations of primary CoQ deficiency that will be periodically updated to incorporate new information published in the literature. Since CoQ primary deficiency is a rare disease, the available data are still limited, but as new patients are added over time, this tool could become a key resource for a more efficient diagnosis of this pathology.