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Page 1
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
Nemethova M, Radvanszky J, Kadasi L, Ascher DB, Pires DE, Blundell TL, Porfirio B, Mannoni A, Santucci A, Milucci L, Sestini S, Biolcati G, Sorge F, Aurizi C, Aquaron R, Alsbou M, Lourenço CM, Ramadevi K, Ranganath LR, Gallagher JA, van Kan C, Hall AK, Olsson B, Sireau N, Ayoob H, Timmis OG, Sang KH, Genovese F, Imrich R, Rovensky J, Srinivasaraghavan R, Bharadwaj SK, Spiegel R, Zatkova A. Nemethova M, et al. Among authors: santucci a. Eur J Hum Genet. 2016 Jan;24(1):66-72. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25. Eur J Hum Genet. 2016. PMID: 25804398 Free PMC article.
Development of an in vitro model to investigate joint ochronosis in alkaptonuria.
Tinti L, Taylor AM, Santucci A, Wlodarski B, Wilson PJ, Jarvis JC, Fraser WD, Davidson JS, Ranganath LR, Gallagher JA. Tinti L, et al. Among authors: santucci a. Rheumatology (Oxford). 2011 Feb;50(2):271-7. doi: 10.1093/rheumatology/keq246. Epub 2010 Oct 15. Rheumatology (Oxford). 2011. PMID: 20952450
Alkaptonuria is a novel human secondary amyloidogenic disease.
Millucci L, Spreafico A, Tinti L, Braconi D, Ghezzi L, Paccagnini E, Bernardini G, Amato L, Laschi M, Selvi E, Galeazzi M, Mannoni A, Benucci M, Lupetti P, Chellini F, Orlandini M, Santucci A. Millucci L, et al. Among authors: santucci a. Biochim Biophys Acta. 2012 Nov;1822(11):1682-91. doi: 10.1016/j.bbadis.2012.07.011. Epub 2012 Jul 28. Biochim Biophys Acta. 2012. PMID: 22850426 Free PMC article.
Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment.
Ranganath LR, Milan AM, Hughes AT, Dutton JJ, Fitzgerald R, Briggs MC, Bygott H, Psarelli EE, Cox TF, Gallagher JA, Jarvis JC, van Kan C, Hall AK, Laan D, Olsson B, Szamosi J, Rudebeck M, Kullenberg T, Cronlund A, Svensson L, Junestrand C, Ayoob H, Timmis OG, Sireau N, Le Quan Sang KH, Genovese F, Braconi D, Santucci A, Nemethova M, Zatkova A, McCaffrey J, Christensen P, Ross G, Imrich R, Rovensky J. Ranganath LR, et al. Among authors: santucci a. Ann Rheum Dis. 2016 Feb;75(2):362-7. doi: 10.1136/annrheumdis-2014-206033. Epub 2014 Dec 4. Ann Rheum Dis. 2016. PMID: 25475116 Clinical Trial.
Amyloidosis in alkaptonuria.
Millucci L, Braconi D, Bernardini G, Lupetti P, Rovensky J, Ranganath L, Santucci A. Millucci L, et al. Among authors: santucci a. J Inherit Metab Dis. 2015 Sep;38(5):797-805. doi: 10.1007/s10545-015-9842-8. Epub 2015 Apr 14. J Inherit Metab Dis. 2015. PMID: 25868666 Review.
566 results