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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918778/
https://www.ncbi.nlm.nih.gov/pubmed/33673364
http://dx.doi.org/10.3390/diagnostics11020294

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918778/
https://www.ncbi.nlm.nih.gov/pubmed/33673364
http://dx.doi.org/10.3390/diagnostics11020294

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