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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
Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms.
Published in:
2019
By:
- Moreira-Silva, Helena;
- Maio, Inês;
- Bandeira, Anabela;
- Gomes-Martins, Esmeralda;
- Santos-Silva, Ermelinda
Publication type:
journal article
Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents.
Published in:
Journal of Nutrition & Metabolism, 2022, p. 1, doi. 10.1155/2022/4782344
By:
- Mosca, Sara;
- Araújo, Graça;
- Costa, Vanessa;
- Correia, Joana;
- Bandeira, Anabela;
- Martins, Esmeralda;
- Mansilha, Helena;
- Tavares, Mónica;
- Coelho, Margarida P.
Publication type:
Article
Leigh syndrome: a case report with a mitochondrial DNA mutation.
Published in:
Revista Paulista de Pediatria, 2019, v. 37, n. 1, p. 136
By:
- Bandeira, Anabela Oliveira
Publication type:
Article
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
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
Iron‐sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3‐methylglutaconic aciduria.
Published in:
Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 11, doi. 10.1002/jmd2.12058
By:
- Coelho, Margarida Paiva;
- Correia, Joana;
- Dias, Aureliano;
- Nogueira, Célia;
- Bandeira, Anabela;
- Martins, Esmeralda;
- Vilarinho, Laura
Publication type:
Article
Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.
Published in:
2021
By:
- Gónzalez-Meneses, Antonio;
- Pineda, Mercè;
- Bandeira, Anabela;
- Janeiro, Patrícia;
- Ruiz, María Ángeles;
- Diogo, Luisa;
- Cancho-Candela, Ramón
Publication type:
journal article
Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective.
Published in:
2021
By:
- Pena, Maria João;
- Pinto, Alex;
- de Almeida, Manuela Ferreira;
- de Sousa Barbosa, Catarina;
- Ramos, Paula Cristina;
- Rocha, Sara;
- Guimas, Arlindo;
- Ribeiro, Rosa;
- Martins, Esmeralda;
- Bandeira, Anabela;
- Dias, Cláudia Camila;
- MacDonald, Anita;
- Borges, Nuno;
- Rocha, Júlio César
Publication type:
journal article
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
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
Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.
Published in:
Genes, 2023, v. 14, n. 8, p. 1536, doi. 10.3390/genes14081536
By:
- Baldo, Manuela Schubert;
- Nogueira, Célia;
- Pereira, Cristina;
- Janeiro, Patrícia;
- Ferreira, Sara;
- Lourenço, Charles M.;
- Bandeira, Anabela;
- Martins, Esmeralda;
- Magalhães, Marina;
- Rodrigues, Esmeralda;
- Santos, Helena;
- Ferreira, Ana Cristina;
- Vilarinho, Laura
Publication type:
Article
Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.
Published in:
Nutrients, 2021, v. 13, n. 9, p. 3118, doi. 10.3390/nu13093118
By:
- Kanufre, Viviane;
- Almeida, Manuela Ferreira;
- Barbosa, Catarina Sousa;
- Carmona, Carla;
- Bandeira, Anabela;
- Martins, Esmeralda;
- Rocha, Sara;
- Guimas, Arlindo;
- Ribeiro, Rosa;
- MacDonald, Anita;
- Pinto, Alex;
- Rocha, Júlio César
Publication type:
Article
Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results after Two Years of Follow-Up with an Adult Team.
Published in:
Nutrients, 2021, v. 13, n. 3, p. 799, doi. 10.3390/nu13030799
By:
- Peres, Maria;
- Almeida, Manuela F.;
- Pinto, Élia J.;
- Carmona, Carla;
- Rocha, Sara;
- Guimas, Arlindo;
- Ribeiro, Rosa;
- Martins, Esmeralda;
- Bandeira, Anabela;
- MacDonald, Anita;
- Rocha, Júlio C.;
- Sanchez-Niño, Maria Dolores
Publication type:
Article
Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria.
Published in:
Nutrients, 2019, v. 11, n. 5, p. 995, doi. 10.3390/nu11050995
By:
- Pinto, Alex;
- Ferreira Almeida, Manuela;
- MacDonald, Anita;
- Cristina Ramos, Paula;
- Rocha, Sara;
- Guimas, Arlindo;
- Ribeiro, Rosa;
- Martins, Esmeralda;
- Bandeira, Anabela;
- Jackson, Richard;
- van Spronsen, Francjan;
- Payne, Anne;
- César Rocha, Júlio
Publication type:
Article

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