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A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria.
Spiga O, Cicaloni V, Zatkova A, Millucci L, Bernardini G, Bernini A, Marzocchi B, Bianchini M, Zugarini A, Rossi A, Zazzeri M, Trezza A, Frediani B, Ranganath L, Braconi D, Santucci A. Spiga O, et al. Among authors: zatkova a. Comput Biol Med. 2018 Dec 1;103:1-7. doi: 10.1016/j.compbiomed.2018.10.002. Epub 2018 Oct 5. Comput Biol Med. 2018. PMID: 30316064
ApreciseKUre: an approach of Precision Medicine in a Rare Disease.
Spiga O, Cicaloni V, Bernini A, Zatkova A, Santucci A. Spiga O, et al. Among authors: zatkova a. BMC Med Inform Decis Mak. 2017 Apr 14;17(1):42. doi: 10.1186/s12911-017-0438-0. BMC Med Inform Decis Mak. 2017. PMID: 28410607 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: zatkova 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.
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: zatkova 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.
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