The natural history of infantile neuroaxonal dystrophy

BACKGROUND: Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium-independent phospholipase A2. OBJECTIVE: We aim to outline the natural histo...

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Detalles Bibliográficos
Autores principales: Altuame, Fadie D., Foskett, Gretchen, Atwal, Paldeep S., Endemann, Sarah, Midei, Mark, Milner, Peter, Salih, Mustafa A., Hamad, Muddathir, Al-Muhaizea, Mohammad, Hashem, Mais, Alkuraya, Fowzan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193406/
https://www.ncbi.nlm.nih.gov/pubmed/32357911
http://dx.doi.org/10.1186/s13023-020-01355-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193406/
https://www.ncbi.nlm.nih.gov/pubmed/32357911
http://dx.doi.org/10.1186/s13023-020-01355-2

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