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Biochimie|February 15, 2021
Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiencyHana Pavlu-Pereira, Diana Lousa, Catarina S Tomé, et al.
Data in Brief|September 23, 2016
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a familyAna Pinheiro, Maria João Silva, Hana Pavlu-Pereira, et al.
Gene|June 26, 2016
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cellsAna Pinheiro, Maria João Silva, Hana Pavlu-Pereira, et al.
Orphanet Journal of Rare Diseases|October 23, 2020
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patientsHana Pavlu-Pereira, Maria João Silva, Cristina Florindo, et al.
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