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

por Coelho, Margarida Paiva, Correia, Joana, Dias, Aureliano, Nogueira, Célia, Bandeira, Anabela, Martins, Esmeralda, Vilarinho, Laura
Publicado 2019

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

por Barroso, Fábio, Correia, Joana, Bandeira, Anabela, Carmona, Carla, Vilarinho, Laura, Almeida, Manuela, Rocha, Júlio César, Martins, Esmeralda
Publicado 2020

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

por Gónzalez-Meneses, Antonio, Pineda, Mercè, Bandeira, Anabela, Janeiro, Patrícia, Ruiz, María Ángeles, Diogo, Luisa, Cancho-Candela, Ramón
Publicado 2021

Dyslipidemia Diagnosis and Treatment: Risk Stratification in Children and Adolescents

por Mosca, Sara, Araújo, Graça, Costa, Vanessa, Correia, Joana, Bandeira, Anabela, Martins, Esmeralda, Mansilha, Helena, Tavares, Mónica, Coelho, Margarida P.
Publicado 2022

LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION

por Lopes, Tânia, Coelho, Margarida, Bordalo, Diana, Bandeira, António, Bandeira, Anabela, Vilarinho, Laura, Fonseca, Paula, Carvalho, Sónia, Martins, Cecília, Oliveira, José Gonçalves
Publicado 2018

SLC35A2-CDG: Novel variant and review

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

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

por 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.
Publicado 2021

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

por 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
Publicado 2021

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era

por 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
Publicado 2023

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

por 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
Publicado 2019

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

por 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
Publicado 2021

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

por 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
Publicado 2020

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

por Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo
Publicado 2016

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

por 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, Janeiro, Patrícia, Amorim, António, Vilarinho, Laura
Publicado 2021