Neurodegeneration associated with genetic defects in phospholipase A(2)

OBJECTIVE: Mutations in the gene encoding phospholipase A(2) group VI (PLA2G6) are associated with two childhood neurologic disorders: infantile neuroaxonal dystrophy (INAD) and idiopathic neurodegeneration with brain iron accumulation (NBIA). INAD is a severe progressive psychomotor disorder in whi...

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Hlavní autoři: Gregory, A, Westaway, S K., Holm, I E., Kotzbauer, P T., Hogarth, P, Sonek, S, Coryell, J C., Nguyen, T M., Nardocci, N, Zorzi, G, Rodriguez, D, Desguerre, I, Bertini, E, Simonati, A, Levinson, B, Dias, C, Barbot, C, Carrilho, I, Santos, M, Malik, I, Gitschier, J, Hayflick, S J.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Academy of Neurology 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2676964/
https://ncbi.nlm.nih.gov/pubmed/18799783
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000327094.67726.28
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