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Article

Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders.

The Indian journal of medical research - 1 Jun 2023

Vanaja Maria Celestina, Nurul Jain Jamal Mohammed, Dalal Ashwin, Ranganath Prajnya

Abstract excerpt

Background & objectives: Lysosomal storage disorders (LSDs) are genetic metabolic disorders which result from deficiency of lysosomal enzymes or defects in other lysosomal components. Molecular genetic testing of LSDs is required for diagnostic confirmation when lysosomal enzyme assays are not available or not feasible to perform, and for the identification of the disease causing genetic variants. The aim of this...

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Identifiers

PMID: 37530313
DOI: 10.4103/ijmr.IJMR_2707_20
PMCID: PMC10466493

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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