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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Orphanet J Rare Dis
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7193406/
https://ncbi.nlm.nih.gov/pubmed/32357911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01355-2
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