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Article

A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.

Genes - 30 Oct 2021

La Cognata Valentina, Cavallaro Sebastiano

Abstract excerpt

With over 60 different disorders and a combined incidence occurring in 1:5000-7000 live births, lysosomal storage diseases (LSDs) represent a major public health problem and constitute an enormous burden for affected individuals and their families. Several reasons make the diagnosis of LSDs an arduous task for clinicians, including the phenotype and penetrance variability, the shared signs and symptoms, and the...

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Case-Control Studies
Early Diagnosis
Genetic Testing
High-Throughput Nucleotide Sequencing
Lysosomal Storage Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sensitivity and Specificity

Sequence Analysis, DNA

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Identifiers

PMID: 34828358
DOI: 10.3390/genes12111750
PMCID: PMC8617937

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