Concepedia

Hana Pavlú-Pereira

HP

4

Publications

202

Citations

4

H-Index

2003

Active since

Affiliations

Charles University(Current)

University of Lisbon

Hana Pavlú-Pereira is an author at Charles University specializing in molecular genetics, genetics, and metabolism.

ORCID

Top concepts

Publications per year

2003–2021

4

Publications

4

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

Hana Pavlú-Pereira, Befekadu Asfaw, H. Poupčtová et al. · Journal of Inherited Metabolic Disease · 2005 · 110 citations

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

Hana Pavlú-Pereira, Maria João Silva, Cristina Florindo et al. · Orphanet Journal of Rare Diseases · 2020 · 43 citations · Full text

Seven Novel Acid Sphingomyelinase Gene Mutations in Niemann‐Pick Type A and B Patients

Jakub Sikora, Hana Pavlú-Pereira, M. Elleder et al. · Annals of Human Genetics · 2003 · 37 citations

Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency

Hana Pavlú-Pereira, Diana Lousa, Catarina S. Tomé et al. · Biochimie · 2021 · 12 citations

, , +7

Rows per page

1–4 of 4