Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel
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DOI: 10.3390/diagnostics11020294
Abstract: 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.… read more here.
Keywords: investigations lysosomal; generation molecular; panel; molecular investigations ... See more keywords