Anabela Bandeira

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

Theodora U. J. Bruun, Sarah Sidky, Anabela Bandeira et al. · Metabolic Brain Disease · 2018 · 46 citations · Full text

Pharmacy, Pharmacotherapy, Renal Pharmacokinetics +8

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

Nutritional status in patients with phenylketonuria using glycomacropeptide as their major protein source

Alex Pinto, Manuela Almeida, Paula Cristina Ramos et al. · European Journal of Clinical Nutrition · 2017 · 43 citations

Agriculture, Nutrition, Nutritional Sciences +13

SLC35A2-CDG: Novel variant and review

Dulce Quelhas, Joana Correia, Jaak Jaeken et al. · Molecular Genetics and Metabolism Reports · 2021 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands

Esmeralda Martins, Ana Marcão, Anabela Bandeira et al. · JIMD Reports · 2012 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17