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Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.
Hum Mutat. 2005 Mar;25(3):320. doi: 10.1002/humu.9310.
Hum Mutat. 2005.
PMID: 15712269
Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis.
Pittis MG, Montalvo AL, Heikinheimo P, Sbaragli M, Balducci C, Persichetti E, Van Maldergem L, Filocamo M, Bembi B, Beccari T.
Pittis MG, et al. Among authors: sbaragli m.
Clin Chim Acta. 2007 Jan;375(1-2):136-9. doi: 10.1016/j.cca.2006.06.034. Epub 2006 Jul 6.
Clin Chim Acta. 2007.
PMID: 16919251
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Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease.
Balducci C, Pierguidi L, Persichetti E, Parnetti L, Sbaragli M, Tassi C, Orlacchio A, Calabresi P, Beccari T, Rossi A.
Balducci C, et al. Among authors: sbaragli m.
Mov Disord. 2007 Jul 30;22(10):1481-1484. doi: 10.1002/mds.21399.
Mov Disord. 2007.
PMID: 17546678
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