Hana PAVLU-PEREIRA | Cited by 209 | of University of Lisbon, Lisbon (UL) | Read 13 publications | Contact Hana PAVLU-PEREIRA

Hana Pavlu Pereira began her scientific career at the University of Chemistry and Technology in Prague in the field of molecular biology, focusing on retroviruses. After graduation, she worked …

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty‐five Czech and Slovak patients. A multi‐approach study. H …

Contributors: Hana Pavlu-Pereira; Florindo, Cristina; Filipa S. Carvalho; Tavares de Almeida, Isabel; Vicente, João B.; Vanessa Morais; Rivera, Isabel; Corresponding author: Hana Pavlu …

Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, et al. Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: null mutations in …

2020年10月22日 · Background: The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by …

Detailed biophysical analysis of pathogenic protein variants is a challenging approach to support the design of therapies based on improving and correcting protein structure and function. …

Hana Pavlu's 7 research works with 342 citations and 1,110 reads, including: Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients...

Hana Pavlu-Pereira Visit ORCID profile. University of Lisbon Share this profile Share with email Share with twitter Share with linkedin Share with facebook. 34 Publications in ORCID. 10 …