Triple A syndrome presenting as complicated hereditary spastic paraplegia

BACKGROUND: Hereditary spastic paraplegia (HSP) is a group of rare disorders characterized by spastic paraparesis and other symptoms. Often, other diseases can mimic HSP, which may delay diagnosis and treatment. METHODS: Whole exome sequencing was performed in families with clinically suspected HSP...

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Detalles Bibliográficos
Autores principales: Leveille, Etienne, Gonorazky, Hernan D., Rioux, Marie‐France, Hazrati, Lili‐Naz, Ruskey, Jennifer A., Carnevale, Amanda, Spiegelman, Dan, Dionne‐Laporte, Alexandre, Rouleau, Guy A., Yoon, Grace, Gan‐Or, Ziv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305671/
https://www.ncbi.nlm.nih.gov/pubmed/30381913
http://dx.doi.org/10.1002/mgg3.492

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305671/
https://www.ncbi.nlm.nih.gov/pubmed/30381913
http://dx.doi.org/10.1002/mgg3.492

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