Diagnostic approach in adult-onset neurometabolic diseases

Neurometabolic diseases are a group of individually rare but numerous and heterogeneous genetic diseases best known to paediatricians. The more recently reported adult forms may present with phenotypes strikingly different from paediatric ones and may mimic other more common neurological disorders i...

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Detalles Bibliográficos
Autores principales: Fernández-Eulate, Gorka, Carreau, Christophe, Benoist, Jean-François, Lamari, Foudil, Rucheton, Benoit, Shor, Natalia, Nadjar, Yann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8921565/
https://www.ncbi.nlm.nih.gov/pubmed/35140137
http://dx.doi.org/10.1136/jnnp-2021-328045

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8921565/
https://www.ncbi.nlm.nih.gov/pubmed/35140137
http://dx.doi.org/10.1136/jnnp-2021-328045

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