Filomena Eusébio

Stereotypies in Rett syndrome

Teresa Temudo, Pedro Oliveira, Mònica Santos et al. · Neurology · 2007 · 83 citations · Full text

Life Sciences, Genetics, Neurology +10

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community

Sofia Quental, Sandra Macedo‐Ribeiro, R M Albuquerque de Matos et al. · Molecular Genetics and Metabolism · 2008 · 41 citations

Life Sciences, Genetics, Molecular Genetics +12

Incidence of maple syrup urine disease in Portugal

Sofia Quental, Laura Vilarinho, Esmeralda Martins et al. · Molecular Genetics and Metabolism · 2010 · 34 citations

Veterinary Medicine, Infectious Diseases, Toxicology +4

Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation

Maria João Silva, Ana Pinheiro, Filomena Eusébio et al. · European Journal of Pediatrics · 2008 · 20 citations

Life Sciences, Genetics, Molecular Genetics +15

The Correlation of Genotype and Phenotype in Portuguese Hyperphenylalaninemic Patients

Isabel Rivera, Aguinaldo Cabral, Manuela Almeida et al. · Molecular Genetics and Metabolism · 2000 · 15 citations

Life Sciences, Genetics, Molecular Genetics +10