Maria Luı́s Cardoso

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport

Lígia S. Almeida, Nanda M. Verhoeven, Birthe Roos et al. · Molecular Genetics and Metabolism · 2004 · 135 citations

Biosynthesis, Creatine Biosynthesis, Inborn Errors +7

l-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients

Clara Barbot, Isabel Fineza, Luísa Diogo et al. · Brain and Development · 1997 · 84 citations

Urology, L-2-hydroxyglutaric Aciduria, Portuguese Pediatric Patients +4

Age related reference values for urine creatine and guanidinoacetic acid concentration in children and adolescents by gas chromatography–mass spectrometry

Carla Valongo, Maria Luı́s Cardoso, Pedro Domíngues et al. · Clinica Chimica Acta · 2004 · 43 citations

Gas Chromatography–mass Spectrometry, Nutrition, Clinical Nutrition +8

Glycogen storage disease type IV presenting as hydrops fetalis

Analucía A. Alegría, Esmeralda Martins, Maria Vitória Ferreira Dias et al. · Journal of Inherited Metabolic Disease · 1999 · 40 citations

Pathogenesis, Fetal Medicine, Gynecology +6

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin

Laura Vilarinho, Maria Luı́s Cardoso, Paulo Gaspar et al. · Human Mutation · 2005 · 38 citations · Full text

Genetics, Pathology, Molecular Genetics +17