Esmeralda Rodrigues

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 249 citations · Full text

Life Sciences, Nephrology, Urology +14

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 236 citations · Full text

Life Sciences, Biochemistry, Nephrology +12

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community

Sofia Quental, Sandra Macedo‐Ribeiro, R M Albuquerque de Matos et al. · Molecular Genetics and Metabolism · 2008 · 41 citations

Life Sciences, Genetics, Molecular Genetics +12

Incidence of maple syrup urine disease in Portugal

Sofia Quental, Laura Vilarinho, Esmeralda Martins et al. · Molecular Genetics and Metabolism · 2010 · 34 citations

Veterinary Medicine, Infectious Diseases, Toxicology +4

Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases

Esmeralda Martins, Maria Luı́s Cardoso, Esmeralda Rodrigues et al. · Journal of Inherited Metabolic Disease · 2011 · 30 citations

Life Sciences, Biochemistry, Endocrinology +14