Sofía Gouveia

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Martina Huemer, Daria Diodato, Diego Martinelli et al. · Journal of Inherited Metabolic Disease · 2019 · 76 citations · Full text

Public Health, Genetics, Molecular Medicine +15

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

Ana Fernández‐Marmiesse, Marcos Morey, Mercè Pineda et al. · Orphanet Journal of Rare Diseases · 2014 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement

Ana Fernández‐Marmiesse, M.C. Carrascosa-Romero, Blanca Alfaro Ponce et al. · Neuromuscular Disorders · 2016 · 51 citations

Life Sciences, Genetics, Molecular Genetics +7

Newborn screening for homocystinurias: Recent recommendations versus current practice

Rebecca Keller, Petr Chrastina, Markéta Pavlı́ková et al. · Journal of Inherited Metabolic Disease · 2019 · 46 citations · Full text

Medicine, Child Health, Pediatrics +12

Quadricuspid aortic valve – 10-year case series and literature review

Sofía Gouveia, José Diogo Martins, Glória Costa et al. · Revista Portuguesa de Cardiologia (English Edition) · 2011 · 25 citations · Full text

Medicine, Cardiology, Pediatrics +17