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First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.
Paciotti S, Persichetti E, Pagliardini S, Deganuto M, Rosano C, Balducci C, Codini M, Filocamo M, Menghini AR, Pagliardini V, Pasqui S, Bembi B, Dardis A, Beccari T. Paciotti S, et al. Among authors: persichetti e. Clin Chim Acta. 2012 Nov 20;413(23-24):1827-31. doi: 10.1016/j.cca.2012.07.011. Epub 2012 Jul 20. Clin Chim Acta. 2012. PMID: 22820396
Lysosomal enzymes in PD: further evidence is needed.
Chiasserini D, Persichetti E, Paciotti S, Beccari T, Parnetti L. Chiasserini D, et al. Among authors: persichetti e. Mov Disord. 2014 Sep;29(10):1329. doi: 10.1002/mds.25976. Epub 2014 Jul 22. Mov Disord. 2014. PMID: 25048840 No abstract available.
Cerebrospinal fluid beta-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies.
Parnetti L, Balducci C, Pierguidi L, De Carlo C, Peducci M, D'Amore C, Padiglioni C, Mastrocola S, Persichetti E, Paciotti S, Bellomo G, Tambasco N, Rossi A, Beccari T, Calabresi P. Parnetti L, et al. Among authors: persichetti e. Neurobiol Dis. 2009 Jun;34(3):484-6. doi: 10.1016/j.nbd.2009.03.002. Epub 2009 Mar 20. Neurobiol Dis. 2009. PMID: 19303930
24 results