Hana Pavlu Pereira
AuthID: R-004-TCX
1
TITLE: Structural and functional impact of clinically relevant E1 alpha variants causing pyruvate dehydrogenase complex deficiency Full Text
AUTHORS: Pavlu Pereira, H; Lousa, D; Tome, CS; Florindo, C; Silva, MJ; de Almeida, IT; Leandro, P; Rivera, I; Vicente, JB;
PUBLISHED: 2021, SOURCE: BIOCHIMIE, VOLUME: 183
AUTHORS: Pavlu Pereira, H; Lousa, D; Tome, CS; Florindo, C; Silva, MJ; de Almeida, IT; Leandro, P; Rivera, I; Vicente, JB;
PUBLISHED: 2021, SOURCE: BIOCHIMIE, VOLUME: 183
INDEXED IN: Scopus WOS
2
TITLE: Molecular basis and clinical presentation of classic galactosemia in a Croatian population
AUTHORS: Danijela Petkovic Ramadza; Vladimir Sarnavka; Jurica Vukovic; Ksenija Fumic; Vjekoslav Krzelj; Bernarda Lozic; Silvija Puseljic; Hana Pereira; Maria Joao Silva; Isabel Tavares de Almeida; Ivo Baric; Isabel Rivera;
PUBLISHED: 2018, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 31, ISSUE: 1
AUTHORS: Danijela Petkovic Ramadza; Vladimir Sarnavka; Jurica Vukovic; Ksenija Fumic; Vjekoslav Krzelj; Bernarda Lozic; Silvija Puseljic; Hana Pereira; Maria Joao Silva; Isabel Tavares de Almeida; Ivo Baric; Isabel Rivera;
PUBLISHED: 2018, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 31, ISSUE: 1
INDEXED IN: Scopus WOS
3
TITLE: 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 cells Full Text
AUTHORS: Ana Pinheiro; Maria Joao Silva; Hana Pavlu Pereira; Cristina Florindo; Madalena Barroso; Barbara Marques; Hildeberto Correia; Anabela Oliveira; Ana Gaspar; Isabel Tavares de Almeida; Isabel Rivera;
PUBLISHED: 2016, SOURCE: GENE, VOLUME: 591, ISSUE: 2
AUTHORS: Ana Pinheiro; Maria Joao Silva; Hana Pavlu Pereira; Cristina Florindo; Madalena Barroso; Barbara Marques; Hildeberto Correia; Anabela Oliveira; Ana Gaspar; Isabel Tavares de Almeida; Isabel Rivera;
PUBLISHED: 2016, SOURCE: GENE, VOLUME: 591, ISSUE: 2
INDEXED IN: WOS CrossRef
4
TITLE: Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family
AUTHORS: Pinheiro, A; Silva, MJ; Pavlu Pereira, H; Florindo, C; Barroso, M; Marques, B; Correia, H; Oliveira, A; Gaspar, A; Tavares de Almeida, I; Rivera, I;
PUBLISHED: 2016, SOURCE: Data in Brief, VOLUME: 9
AUTHORS: Pinheiro, A; Silva, MJ; Pavlu Pereira, H; Florindo, C; Barroso, M; Marques, B; Correia, H; Oliveira, A; Gaspar, A; Tavares de Almeida, I; Rivera, I;
PUBLISHED: 2016, SOURCE: Data in Brief, VOLUME: 9
INDEXED IN: Scopus