| Name: | Description: | Size: | Format: | |
|---|---|---|---|---|
| 1.98 MB | Adobe PDF |
Authors
Advisor(s)
Abstract(s)
Rare 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.
Description
Keywords
Doenças Lisossomais de Sobrecarga: Diagnóstico Molecular Next Generation Sequecing Doenças Genéticas Genética Humana
