Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients

BACKGROUND: The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central n...

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Detalles Bibliográficos
Autores principales: Pavlu-Pereira, Hana, Silva, Maria João, Florindo, Cristina, Sequeira, Sílvia, Ferreira, Ana Cristina, Duarte, Sofia, Rodrigues, Ana Luísa, Janeiro, Patrícia, Oliveira, Anabela, Gomes, Daniel, Bandeira, Anabela, Martins, Esmeralda, Gomes, Roseli, Soares, Sérgia, Tavares de Almeida, Isabel, Vicente, João B., Rivera, Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7579914/
https://www.ncbi.nlm.nih.gov/pubmed/33092611
http://dx.doi.org/10.1186/s13023-020-01586-3

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