Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehens...
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
Diagnosis of lysosomal disorders (LDs) may be hampered by their clinical heterogeneity, phenotypic overlap, and variable age at onset. Conventional biological diagnostic procedures are based on a series of sequential investigations and require multiple sampling. Early diagnosis may allow for timely treatment and prevent clinical complications. In o...
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Full title
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel
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TN_cdi_doaj_primary_oai_doaj_org_article_4764e4163ff54fe0adc720d1a3774f8f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4764e4163ff54fe0adc720d1a3774f8f
Other Identifiers
ISSN
2075-4418
E-ISSN
2075-4418
DOI
10.3390/diagnostics11020294
