Curated incidence of lysosomal storage diseases from the Taiwan Biobank

Abstract excerpt

<title>Abstract</title> <p>Lysosomal storage diseases (LSDs) are a group of metabolic disorders resulting from a deficiency in one of the lysosomal hydrolases. Most LSDs are inherited in an autosomal or X-linked recessive manner. As LSDs are rare, their true incidence in Taiwan remains unknown. In this study, we used high-coverage WGS data from 1,495 Taiwanese individuals obtained from the Taiwan Biobank. We foun...

Topics

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• Case-Control Studies
• Early Diagnosis
• Genetic Testing
• High-Throughput Nucleotide Sequencing
• Lysosomal Storage Diseases
• Lysosomal Storage Disorders Research
• Penetrance
• Sensitivity and Specificity

Identifiers and source

Literature Corpus work

4bf7d41d-c448-590b-823d-2083eea0f954

DOI

10.21203/rs.3.rs-2932243/v1