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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7579914/
https://ncbi.nlm.nih.gov/pubmed/33092611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01586-3
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