Linhas de Pamidronato

by Inês Ferreira, Joana Correia, Anabela Bandeira
Published 2015-10-01

Abordagem da má evolução ponderal

by Mónica Tavares, Inês Vaz Matos, Anabela Bandeira, Margarida Guedes
Published 2017-01-01

QUANDO A ECOGRAFIA CARDÍACA REVELA A PONTA DO ICEBERG

by Daniel Meireles, Anabela Bandeira, Marília Loureiro, Sílvia Álvares, Esmeralda Martins
Published 2017-01-01

Genes, Children and Pediatricians

by Joana Correia, Marta Rios, Paula Ferreira, Esmeralda Martins, Anabela Bandeira
Published 2017-01-01

A very rare cause of infantile spasms

by Margarida Silva Fonseca, Clara Vieira, Rui Chorão, Anabela Bandeira, Inês Carrilho
Published 2020-06-01

Dysmorphic syndrome in newborn with hypocholesterolemia

by Inês Ferreira, Sandra Pereira, Sónia Lira, Anabela Bandeira, Dulce Quelhas, Esmeralda Martins
Published 2015-09-01

Iron‐sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3‐methylglutaconic aciduria

by Margarida Paiva Coelho, Joana Correia, Aureliano Dias, Célia Nogueira, Anabela Bandeira, Esmeralda Martins, Laura Vilarinho
Published 2019-09-01

ESPLENOMEGALIA PERSISTENTE ASSINTOMÁTICA – UM ACHADO NÃO TRANQUILIZADOR

by Margarida Coelho, Inês Falcão, Emília Costa, Isabel Couto Guerra, Esmeralda Cleto, Esmeralda Martins, Anabela Bandeira
Published 2015-12-01

INSUFICIÊNCIA HEPÁTICA NO RECÉM-NASCIDO E RASTREIO ENDÓCRINO-METABÓLICO

by Daniel Meireles, Helena Moreira Silva, Margarida Coelho, Filipe Oliveira, Anabela Bandeira, Esmeralda Martins, Ermelinda Santos Silva
Published 2016-07-01

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW

by Fábio Barroso, Joana Correia, Anabela Bandeira, Carla Carmona, Laura Vilarinho, Manuela Almeida, Júlio César Rocha, Esmeralda Martins

Infecção cutânea grave por Streptococcus pyogenes

by Anabela Bandeira, Rui Almeida, Esmeralda Silva, Guilhermina Reis, Margarida Guedes, Miguel Trigueiros, César Silva, Manuel Tavares, Elsa Calado
Published 2014-08-01

SLC35A2-CDG: Novel variant and review

by Dulce Quelhas, Joana Correia, Jaak Jaeken, Luísa Azevedo, Mónica Lopes-Marques, Anabela Bandeira, Liesbeth Keldermans, Gert Matthijs, Luisa Sturiale, Esmeralda Martins
Published 2021-03-01

SÍNDROME DE LEIGH: A PROPÓSITO DE UM CASO CLÍNICO COM MUTAÇÃO NO DNA MITOCONDRIAL

by Tânia Lopes, Margarida Coelho, Diana Bordalo, António Bandeira, Anabela Bandeira, Laura Vilarinho, Paula Fonseca, Sónia Carvalho, Cecília Martins, José Gonçalves Oliveira
Published 2018-10-01

Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results After Two Years of Follow-Up with an Adult Team

by Maria Peres, Manuela F. Almeida, Élia J. Pinto, Carla Carmona, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Anita MacDonald, Júlio C. Rocha
Published 2021-02-01

Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations

by Viviane Kanufre, Manuela Ferreira Almeida, Catarina Sousa Barbosa, Carla Carmona, Anabela Bandeira, Esmeralda Martins, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Anita MacDonald, Alex Pinto, Júlio César Rocha
Published 2021-09-01

Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria

by Alex Pinto, Manuela Ferreira Almeida, Anita MacDonald, Paula Cristina Ramos, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Richard Jackson, Francjan van Spronsen, Anne Payne, Júlio César Rocha
Published 2019-04-01

A síndrome de Smith-Lemli-Opitz: características fenotípicas e genotípicas dos doentes portugueses

by Maria Luís Cardoso, Anabela Bandeira, Altina Lopes, Márcia Rodrigues, Margarida Venâncio, Jorge Sales Marques, Patrícia Janeiro, Inês Ferreira, Dulce Quelhas, Silvia Sequeira, Gabriela Soares, Teresa Lourenço, Rosário Rodrigues, Ana Gaspar, Luís Nunes, Franklim Marques, Esmeralda Martins
Published 2012-08-01

Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective

by Maria João Pena, Alex Pinto, Manuela Ferreira de Almeida, Catarina de Sousa Barbosa, Paula Cristina Ramos, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Cláudia Camila Dias, Anita MacDonald, Nuno Borges, Júlio César Rocha
Published 2021-02-01

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

by Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, Patrícia Janeiro, Anabela Oliveira, Daniel Gomes, Anabela Bandeira, Esmeralda Martins, Roseli Gomes, Sérgia Soares, Isabel Tavares de Almeida, João B. Vicente, Isabel Rivera
Published 2020-10-01

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses

by Filipa Ferreira, Luísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca, Ana Marcão, Hugo Rocha, Célia Carmona, Sónia Ramos, Anabela Bandeira, Esmeralda Martins, Teresa Campos, Esmeralda Rodrigues, Paula Garcia, Luísa Diogo, Ana Cristina Ferreira, Silvia Sequeira, Francisco Silva, Luísa Rodrigues, Ana Gaspar, Patrícia Janeiro, António Amorim, Laura Vilarinho
Published 2021-03-01