Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit

por Teixeira, Catarina, Cordeiro, Catarina, Pinto, Carla, Diogo, Luísa
Publicado 2023

Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features

por Diogo, Rui, Rua, Inês B, Ferreira, Sara, Nogueira, Célia, Pereira, Cristina, Rosmaninho-Salgado, Joana, Diogo, Luísa
Publicado 2023

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

Mitochondrial Fatty Acid β-Oxidation Disorders: From Disease to Lipidomic Studies—A Critical Review

por Guerra, Inês M. S., Ferreira, Helena B., Melo, Tânia, Rocha, Hugo, Moreira, Sónia, Diogo, Luísa, Domingues, Maria Rosário, Moreira, Ana S. P.
Publicado 2022

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

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

por Couce, Maria Luz, Sánchez-Pintos, Paula, Diogo, Luisa, Leão-Teles, Elisa, Martins, Esmeralda, Santos, Helena, Bueno, Maria Amor, Delgado-Pecellín, Carmen, Castiñeiras, Daisy E, Cocho, José A, García-Villoria, Judit, Ribes, Antonia, Fraga, José M, Rocha, Hugo
Publicado 2013

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

por Wamelink, Mirjam M. C., Ramos, Ruben J. J. F., van den Elzen, Annette P. M., Ruijter, George J. G., Bonte, Ramon, Diogo, Luisa, Garcia, Paula, Neves, Nelson, Nota, Benjamin, Haschemi, Arvand, Tavares de Almeida, Isabel, Salomons, Gajja S.
Publicado 2015

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