Niemann-Pick Type B: A Rare Cause of Interstitial Lung Disease

por Sousa Martins, Rute, Rocha, Sara, Guimas, Arlindo, Ribeiro, Rosa
Publicado 2022

Hunter Syndrome: The Phenotype of a Rare Storage Disease

por Sousa Martins, Rute, Rocha, Sara, Guimas, Arlindo, Ribeiro, Rosa
Publicado 2022

From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency

por Marques, Cristina, Silva, Catarina, Silva, Carina, Abreu, João Pedro, Ribeiro, Márcia, Guimas, Arlindo
Publicado 2023

Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia

por Sousa Martins, Rute, Guimas, Arlindo, Rocha, Sara, Ribeiro, Rosa, Martins, Esmeralda, Almeida, Manuela, Quelhas, Dulce
Publicado 2022

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

The Role of a Medical Intermediate Care Unit in the Management of Budd-Chiari Syndrome: Case Series

por Cravo, Marcia, Oliveira, Daniel G., Guimas, Arlindo, Vita, Pedro, Rego, Ana Luisa, Alves, Rute, Valadares, Diana, Carvalheiras, Graziela, Ricardo, Miguel, Pinto, Alexandre, Pessegueiro, Helena, Nery, Filipe
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

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