Article
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
International journal of molecular sciences - 1 Sept 2020
Encarnação Marisa, Coutinho Maria Francisca, Silva Lisbeth, Ribeiro Diogo, Ouesleti Souad, Campos Teresa, Santos Helena, Martins Esmeralda, Cardoso Maria Teresa, Vilarinho Laura, Alves Sandra
Abstract excerpt
Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degrees of severity and a broad phenotypic spectrum, which may overlap with a number of other conditions. While individually rare, as a group LSDs affect a significant number of patients, placing an important burden on affected individuals and their families but also on national health care systems worldwide. Here, we...
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