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Mucopolysaccharidosis at play?
Fiumara A. Fiumara A. Eur J Hum Genet. 2018 Jan;26(1):34-35. doi: 10.1038/s41431-017-0036-8. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184168 Free PMC article. No abstract available.
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: fiumara a. 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
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Wilson MP, et al. Among authors: fiumara a. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14. Am J Hum Genet. 2021. PMID: 34653363 Free PMC article.
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: fiumara a. 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.
Hyperkinetic movement disorders in congenital disorders of glycosylation.
Mostile G, Barone R, Nicoletti A, Rizzo R, Martinelli D, Sturiale L, Fiumara A, Jankovic J, Zappia M. Mostile G, et al. Among authors: fiumara a. Eur J Neurol. 2019 Sep;26(9):1226-1234. doi: 10.1111/ene.14007. Epub 2019 Jun 21. Eur J Neurol. 2019. PMID: 31132195
187 results