Helena Fonseca

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

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

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening

Helena Fonseca, Luı́sa Azevedo, Catarina Serrano et al. · Gene · 2016 · 28 citations

Life Sciences, Genetics, Pediatrics +16

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 · 24 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Retrospective study of the medium‐chain acyl‐<scp>CoA</scp> dehydrogenase deficiency in Portugal

Fátima V. Ventura, Paula Leandro, Ana Catarina Luz et al. · Clinical Genetics · 2013 · 12 citations

Life Sciences, Genetics, Molecular Genetics +17