Maria João Silva

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

Functional and structural impact of the most prevalent missense mutations in classic galactosemia

Ana I. Coelho, Matilde Trabuco, Ruben Ramos et al. · Molecular Genetics & Genomic Medicine · 2014 · 43 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model

Ana I. Coelho, Matilde Trabuco, Maria João Silva et al. · JIMD Reports · 2015 · 23 citations

Life Sciences, Biochemistry, Genetics +15

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

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