Perfil genético-clínico dos pacientes atendidos no ambulatório de doenças raras de um hospital pediátrico de Curitiba, Paraná

• Päätekijät: Déborah Rossane Santana Costa de-Souza (Tekijä), Franciele Bona Verzeletti (Tekijä), Mara Lúcia Schmitz Ferreira Santos (Tekijä), Josiane Souza (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Sociedade Brasileira de Pediatria, 2022-12-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

Introduction: Rare diseases are chronic, progressive conditions with a low frequency of occurrence in the population. They can be divided into two groups: diseases of genetic origin and of non-genetic origin. Currently, molecular genetic tests are widely used to screen and diagnose patients with rar...