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Multiomics tools for the diagnosis and treatment of rare neurological disease

Conventional workup of rare neurological disease is frequently hampered by diagnostic delay or lack of diagnosis. While biomarkers have been established for many neurometabolic disorders, improved methods are required for diagnosis of previously unidentified or underreported causes of rare neurologi...

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Detalles Bibliográficos
Autores principales: Crowther, L. M., Poms, M., Plecko, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959950/
https://www.ncbi.nlm.nih.gov/pubmed/29536202
http://dx.doi.org/10.1007/s10545-018-0154-7