Alves, Sandra2019-03-252019-03-252018-02-28http://hdl.handle.net/10400.18/6294Rare genetic diseases, the diagnosis is difficult due to considerable clinical overlap and clinical variability. Usually multiple samples and tests are often required before a diagnosis is reached.porDoenças Lisossomais de Sobrecarga:Diagnóstico MolecularNext Generation SequecingDoenças GenéticasGenética Humanalecture