Concepedia
Statistics
Publications
21
Citations
697
H-Index
16
Active since
1996
Affiliations
Centro de Genética Clínica(Current)
Hospital Maria Pia
Universidade do Porto
Hospital de Santo António
National Institute of Health Dr. Ricardo Jorge
Maria Luı́s Cardoso is an author at Centro de Genética Clínica specializing in life sciences, medicine, and genetics.
Publications per year
1996–2013
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 · 136 citations
Life Sciences, Biochemistry, Physiology +10
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 · 85 citations
Medicine, Pediatrics, Radiology +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
Medicine, Pediatrics, Human Nutrition +5
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 · 41 citations · Full text
Life Sciences, Genetics, Neurology +17
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
Medicine, Obstetrics, Pathology +10
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