Study of the Materials and Techniques of a Rare Papier-Mâché Mushroom Model Crafted in H. Arnoldi Factory

por Melo, Maria J., Freitas, Ana, Vieira, Cristiana, Vilarigues, Márcia, Vieira, Márcia, Nabais, Paula, Sequeira, Sílvia, Lourenço, Mónica, Oliveira, Gabriel, Correia, Ana Rita
Publicado 2023

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal

por Alves, Ana Catarina, Miranda, Beatriz, Moldovan, Oana, Santo, Raquel Espírito, Gouveia Silva, Raquel, Soares Cardoso, Sandra, Diogo, Luísa, Seidi, Mónica, Sequeira, Silvia, Bourbon, Mafalda
Publicado 2023

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

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

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

por Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.
Publicado 2017