Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Hana Pavlu-PereiraMaria João SilvaCristina FlorindoSílvia SequeiraAna Cristina FerreiraSofia DuarteAna Luísa RodriguesPatrícia JaneiroAnabela OliveiraDaniel GomesAnabela BandeiraEsmeralda MartinsRoseli GomesSérgia SoaresIsabel Tavares de AlmeidaJoão B VicenteIsabel RiveraPublished in: Orphanet journal of rare diseases (2020)
The identification of the disease-causing mutations, together with the functional and structural characterization of the mutant protein variants, allow to obtain an insight on the severity of the clinical phenotype and the selection of the most appropriate therapy.