Célia Nogueira

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

Célia Nogueira, Chiara Aiello, R. Cerone et al. · Molecular Genetics and Metabolism · 2008 · 109 citations

Cblc Type, Mendelian Disorder, Genetic Disorder +8

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

Célia Nogueira, José Barros, María José Sá et al. · Neurogenetics · 2013 · 45 citations

Novel Ttc19 Mutation, Mendelian Disorder, Complex Iii Deficiency +12

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

Molecular picture of cobalamin C/D defects before and after newborn screening era

Célia Nogueira, Ana Marcão, Hugo Rocha et al. · Journal of Medical Screening · 2016 · 23 citations · Full text

Genetics, Newborn Screening Era, Human Polymorphism +16

Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance

Camila Simioni Vanzin, Caroline Paula Mescka, Bruna Donida et al. · Cellular and Molecular Neurobiology · 2015 · 22 citations · Full text

Inflammatory Profile, Biochemistry, Medicine +6