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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...

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Dades bibliogràfiques
Publicat a:Diagnostics (Basel)
Autors principals: Sudrié-Arnaud, Bénédicte, Snanoudj, Sarah, Dabaj, Ivana, Dranguet, Hélène, Abily-Donval, Lenaig, Lebas, Axel, Vezain, Myriam, Héron, Bénédicte, Marie, Isabelle, Duval-Arnould, Marc, Marret, Stéphane, Tebani, Abdellah, Bekri, Soumeya
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2021
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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