Works by Bandeira, Anabela


Results: 15
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    Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.

    Published in:
    2020
    By:
    • 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
    Publication type:
    journal article
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    LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION.

    Published in:
    Revista Paulista de Pediatria, 2018, v. 36, n. 4, p. 519, doi. 10.1590/1984-0462/;2018;36;4;00003
    By:
    • Lopes, Tânia;
    • Coelho, Margarida;
    • Bordalo, Diana;
    • Bandeira, António;
    • Bandeira, Anabela;
    • Vilarinho, Laura;
    • Fonseca, Paula;
    • Carvalho, Sónia;
    • Martins, Cecília;
    • Oliveira, José Gonçalves
    Publication type:
    Article
    7

    Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 21, doi. 10.1007/s10545-016-9991-4
    By:
    • Huemer, Martina;
    • Diodato, Daria;
    • Schwahn, Bernd;
    • Schiff, Manuel;
    • Bandeira, Anabela;
    • Benoist, Jean-Francois;
    • Burlina, Alberto;
    • Cerone, Roberto;
    • Couce, Maria;
    • Garcia-Cazorla, Angeles;
    • Marca, Giancarlo;
    • Pasquini, Elisabetta;
    • Vilarinho, Laura;
    • Weisfeld-Adams, James;
    • Kožich, Viktor;
    • Blom, Henk;
    • Baumgartner, Matthias;
    • Dionisi-Vici, Carlo
    Publication type:
    Article
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    Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

    Published in:
    Metabolic Brain Disease, 2018, v. 33, n. 3, p. 875, doi. 10.1007/s11011-018-0197-3
    By:
    • Bruun, Theodora U. J.;
    • Sidky, Sarah;
    • Bandeira, Anabela O.;
    • Debray, Francoise-Guillaume;
    • Ficicioglu, Can;
    • Goldstein, Jennifer;
    • Joost, Kairit;
    • Koeberl, Dwight D.;
    • Luísa, Diogo;
    • Nassogne, Marie-Cecile;
    • O’Sullivan, Siobhan;
    • Õunap, Katrin;
    • Schulze, Andreas;
    • van Maldergem, Lionel;
    • Salomons, Gajja S.;
    • Mercimek-Andrews, Saadet
    Publication type:
    Article
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    Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1559
    By:
    • Ferreira, Filipa;
    • Azevedo, Luísa;
    • Neiva, Raquel;
    • Sousa, Carmen;
    • Fonseca, Helena;
    • Marcão, Ana;
    • Rocha, Hugo;
    • Carmona, Célia;
    • Ramos, Sónia;
    • Bandeira, Anabela;
    • Martins, Esmeralda;
    • Campos, Teresa;
    • Rodrigues, Esmeralda;
    • Garcia, Paula;
    • Diogo, Luísa;
    • Ferreira, Ana Cristina;
    • Sequeira, Silvia;
    • Silva, Francisco;
    • Rodrigues, Luísa;
    • Gaspar, Ana
    Publication type:
    Article
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