Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene
Ângela Sitta, Gilian Guerreiro, Daniella de Moura Coelho, Vitoria Volfart da Rocha, Bianca Gomes dos Reis, Cármen Sousa, Laura Vilarinho, Moaçir Wajner, Carmen Regla Vargas
Topics & Concepts
Newborn screeningPediatricsMutationDystoniaNeurologyGlutaric acidMedicineDiseaseInternal medicineGeneGeneticsBiologyPsychiatryBiochemistryMetabolism and Genetic DisordersBiochemical and Molecular ResearchGenomics and Rare Diseases