Anabela Oliveira

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

Hana Pavlú-Pereira, Maria João Silva, Cristina Florindo et al. · Orphanet Journal of Rare Diseases · 2020 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenylalanine hydroxylase deficiency: Molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients

Isabel Rivera, Dina Mendes, Ângela Afonso et al. · Molecular Genetics and Metabolism · 2011 · 19 citations

Life Sciences, Genetics, Molecular Genetics +15

Functional correction by antisense therapy of a splicing mutation in the GALT gene

Ana I. Coelho, Sílvia Pires Lourenço, Matilde Trabuco et al. · European Journal of Human Genetics · 2014 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

Dulce Quelhas, Esmeralda Martins, Luı́sa Azevedo et al. · The Journal of Pediatrics · 2020 · 17 citations · Full text

Life Sciences, Biochemistry, Genetics +14

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal

Ana I. Coelho, Ruben Ramos, Ana Gaspar et al. · Journal of Inherited Metabolic Disease · 2013 · 14 citations

Life Sciences, Genetics, Molecular Genetics +16