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Page 1
Early diagnosis of mucopolysaccharidoses in developing countries: A low cost and easy execution approach.
Gabrielli O, Zampini L, Monachesi C, Marchesiello RL, Padella L, Santoro L, Volpi N, Concolino D, Fiumara A, Rigon L, Mazzoli M, Carnielli VP, Giovagnoni A, Catassi C, Galeazzi T, Coppa GV. Gabrielli O, et al. Among authors: concolino d. Clin Chim Acta. 2017 May;468:150-151. doi: 10.1016/j.cca.2017.02.020. Epub 2017 Feb 28. Clin Chim Acta. 2017. PMID: 28257882 No abstract available.
Endocrine system involvement in patients with RASopathies: A case series.
Siano MA, Pivonello R, Salerno M, Falco M, Mauro C, De Brasi D, Klain A, Sestito S, De Luca A, Pinna V, Simeoli C, Concolino D, Mainolfi CG, Mannarino T, Strisciuglio P, Tartaglia M, Melis D. Siano MA, et al. Among authors: concolino d. Front Endocrinol (Lausanne). 2022 Nov 18;13:1030398. doi: 10.3389/fendo.2022.1030398. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36483002 Free PMC article.
7p22.2 Microduplication: A Pathogenic CNV?
Bauleo A, Montesanto A, Pace V, Guarasci F, Apa R, Brando R, De Stefano L, Sestito S, Concolino D, Falcone E. Bauleo A, et al. Among authors: concolino d. Genes (Basel). 2023 Jun 19;14(6):1292. doi: 10.3390/genes14061292. Genes (Basel). 2023. PMID: 37372471 Free PMC article.
Closed Meningo(encephalo)cele: a new feature in Hunter syndrome.
Manara R, Priante E, Grimaldi M, Santoro L, Polonara G, Parini R, Scarpa M; Italian MPS Neuroimaging Study Group. Manara R, et al. AJNR Am J Neuroradiol. 2012 May;33(5):873-7. doi: 10.3174/ajnr.A2867. Epub 2011 Dec 22. AJNR Am J Neuroradiol. 2012. PMID: 22194384 Free PMC article.
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. Barone R, et al. Among authors: concolino d. Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632. Ann Neurol. 2012. PMID: 23109149
Composition and structure of glycosaminoglycans in DBS from 2-3-day-old newborns for the diagnosis of mucopolysaccharidosis.
Maccari F, Galeotti F, Mantovani V, Zampini L, Padella L, Rigon L, Concolino D, Fiumara A, Pascale E, Pittalà A, Galeazzi T, Monachesi C, Marchesiello RL, Coppa G, Gabrielli O, Volpi N. Maccari F, et al. Among authors: concolino d. Anal Biochem. 2018 Sep 15;557:34-41. doi: 10.1016/j.ab.2018.07.007. Epub 2018 Jul 18. Anal Biochem. 2018. PMID: 30009765
False positive screen test for mucopolysaccharidoses in healthy female newborns.
Monachesi C, Zampini L, Padella L, Marchesiello RL, Galeazzi T, Santoro L, Catassi C, Gasparrini E, Carnielli VP, Volpi N, Fiumara A, Concolino D, Tomanin R, Coppa GV, Gabrielli O. Monachesi C, et al. Among authors: concolino d. Clin Chim Acta. 2018 Nov;486:221-223. doi: 10.1016/j.cca.2018.08.016. Epub 2018 Aug 12. Clin Chim Acta. 2018. PMID: 30110607
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A, D'Avanzo F, Rigon L, Rampazzo A, Concolino D, Barone R, Volpi N, Santoro L, Lualdi S, Bertola F, Scarpa M, Tomanin R. Zanetti A, et al. Among authors: d avanzo f, concolino d. Eur J Pediatr. 2019 May;178(5):739-753. doi: 10.1007/s00431-019-03341-8. Epub 2019 Feb 26. Eur J Pediatr. 2019. PMID: 30809705 Free PMC article. Clinical Trial.
149 results