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Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel
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...
Guardat en:
| Publicat a: | Diagnostics (Basel) |
|---|---|
| Autors principals: | , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7918778/ https://ncbi.nlm.nih.gov/pubmed/33673364 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics11020294 |
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