Ana Marcão

Prevalence of lysosomal storage diseases in Portugal

Rui Pinto, Carla Caseiro, Manuela Nascimento de Lemos et al. · European Journal of Human Genetics · 2003 · 349 citations

Life Sciences, Genetics, Pathology +11

Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

Stephan Lobitz, Paul Telfer, Elena Cela et al. · British Journal of Haematology · 2018 · 152 citations · Full text

Medicine, Pediatrics, Preventive Medicine +16

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations

Isaura Ribeiro, Ana Marcão, Olga Amaral et al. · Human Genetics · 2001 · 108 citations

Life Sciences, Genetics, Molecular Biology +14

Four years of expanded newborn screening in Portugal with tandem mass spectrometry

Laura Vilarinho, Hugo Rocha, Cármen Sousa et al. · Journal of Inherited Metabolic Disease · 2010 · 96 citations

Medicine, Child Health, Pediatrics +12

Outcome of three cases of untreated maternal glutaric aciduria type I

Paula Garcia, Esmeralda Martins, Luísa Diogo et al. · European Journal of Pediatrics · 2007 · 44 citations

Medicine, Maternal Health, Obstetrics +3