Carla Valongo

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 159 citations · Full text

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

Cytometric, morphologic and enzymatic characterisation of haemocytes in Anodonta cygnea

I.M. Soares-da-Silva, José A. Ribeiro, Carla Valongo et al. · Comparative Biochemistry and Physiology Part A Molecular & Integrative Physiology · 2002 · 47 citations

Biology, Anodonta Cygnea, Physiology

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

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 · 23 citations · Full text

Genetics, Newborn Screening Era, Human Polymorphism +16