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Article

Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders.

The Journal of molecular diagnostics : JMD - 1 Apr 2020

Zanetti Alessandra, D'Avanzo Francesca, Bertoldi Loris, Zampieri Guido, Feltrin Erika, De Pascale Fabio, Rampazzo Angelica, Forzan Monica, Valle Giorgio, Tomanin Rosella

Abstract excerpt

Lysosomal storage disorders (LSDs) are monogenic diseases, due to accumulation of specific undegraded substrates into lysosomes. LSD diagnosis could take several years because of both poor knowledge of these diseases and shared clinical features. The diagnostic approach includes clinical evaluations, biochemical tests, and genetic analysis of the suspected gene. In this study, we evaluated an LSD targeted...

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Biomarkers
Comparative Genomic Hybridization
Exome Sequencing
Genetic Association Studies
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Lysosomal Storage Diseases

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PMID: 32036093
DOI: 10.1016/j.jmoldx.2020.01.010

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