Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel

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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Bibliographic Details
Main Authors: Bénédicte Sudrié-Arnaud, Sarah Snanoudj, Ivana Dabaj, Hélène Dranguet, Lenaig Abily-Donval, Axel Lebas, Myriam Vezain, Bénédicte Héron, Isabelle Marie, Marc Duval-Arnould, Stéphane Marret, Abdellah Tebani, Soumeya Bekri
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Diagnostics
Subjects:
NGS
next generation sequencing
inborn errors of metabolism
lysosomal disorders
Online Access:https://www.mdpi.com/2075-4418/11/2/294

Internet

https://www.mdpi.com/2075-4418/11/2/294

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