[[1] Anderson B. Corneal and conjunctival pigmentation among workers engaged in manufacture of hydroqui-none. Arch Ophth 1947; 38: 812.10.1001/archopht.1947.00900010831007]Search in Google Scholar
[[2] Barel J, Bamatter F, Courvoisier B, et al. Troubles familiaux du metabolisme des acides aminés (alcaptonurie, oligophré-nie phénylpyruvique, cataracte congenitale dans une méme famille) Schweiz Med Wchschr 1960; 90: 863-875.]Search in Google Scholar
[[3] Bošák V. Súčasný pohl'ad na genetiku alkaptonúrie. Čes Revmatol 2010; 18: 92-96.]Search in Google Scholar
[[4] Brunner H. Über die Veränderungen des Schläfenbeines bei der Ochronose. Uschr Ohrenheilk 1929; 63: 997-1007.]Search in Google Scholar
[[5] Červeňanský J, Sit'aj Š, Urbánek T. Alkaptonuria and ochronosis. J Bone Joint Sugr 1959; 41: 1169-1182.10.2106/00004623-195941070-00001]Search in Google Scholar
[[6] Fernandez-Canón JM, Granadino B, Beltrán-Valero de Bernabé D, et al. The molecular basis of alkaptonuria. Nat Genet 1996; 14: 19-24.10.1038/ng0996-19]Search in Google Scholar
[[7] Garrod AE. Inborn Errors of metabolism. Frowde, Hoder and Stoughton, London 1909.]Search in Google Scholar
[[8] Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. Lancet II 1902; 1616-1620.10.1016/S0140-6736(01)41972-6]Search in Google Scholar
[[9] Granadino B, Beltrán-Valero Bernabé D, Fernández-Canón JM, et al. The human homogentisate 1,2- dioxy-genase gene. Genomics 1997; 43: 115-122.10.1006/geno.1997.4805]Search in Google Scholar
[[10] Hogben L, Worral RL, Zieve J: The genetic basis of alkap-tonuria. Proc Roy Soc Edinburg, 52, 1932, s. 264.10.1017/S0370164600019532]Search in Google Scholar
[[11] Hüttl S, Markovič O, Sit'aj Š. Gelenkerguss bei der ochrono-tischen Arthtropathie. Z Rheumaforsch 1966; 25: 69-181.]Search in Google Scholar
[[12] Janocha S, Wolz W, Sršeň Š, et al. The human gene for al-kaptonuria maps to chromosome 3q. Genomics 1994; 19: 5-8.10.1006/geno.1994.1003]Search in Google Scholar
[[13] Kihara T, Yasuda M, Watanabe H, et al. Coexistence of ochronosis and rheumatoid arthritis. Clin Rheumatol 1994; 13: 135-138.10.1007/BF02229885]Search in Google Scholar
[[14] La Du BN, Zannoni WG, Laster L, et al. The nature of the in tyrosine metabolism in Alkaptonuria. J Biol Chem 1958; 230: 251-260.10.1016/S0021-9258(18)70560-7]Search in Google Scholar
[[15] Morava E, Kosztolanyi G, Engelke UF, et al. Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria. Ann Clin Biochem 2003; 40: 108-111.10.1258/00045630332101626812542920]Search in Google Scholar
[[16] Phornphutkul C, Introne WJ, Perry, et al.: Natural history of alkaptonuria. N Engl J Med 2002; 26: 2111-2121.10.1056/NEJMoa021736]Search in Google Scholar
[[17] Pollak MR, Chou YH, Cerda JJ, et al. Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet 1993; 5: 201-204.10.1038/ng1093-201]Search in Google Scholar
[[18] Porfrio B, Chiarelli I, Graziano C, et al. Alkaptonuria in Italy. Polymorphic haplotype background, mutational profile and description of four novel mutations in the ho-mogentisate 1,2-dioxygenase gene. J Med Genet 2000; 37: 309-312.10.1136/jmg.37.4.309]Search in Google Scholar
[[19] Rovenský J, Urbánek T. Alkaptonúria a ochronóza. Lek Obz 2000; 49: 341-346.]Search in Google Scholar
[[20] Rovenský J, Urbánek T. Alkaptonurie a ochronóza. Alkap-tonurie a ochronóza. In: Klinická revmatologie. Hrnčíř Z (ed). Galén, Praha 2003; 509-516.]Search in Google Scholar
[[21] Seegmiller JE, Zannoni VG, Laster L, et al. An enzymatis spectrophotometric method for the determination of homogentisic acid in plasma and urine. J Biol Chem 1961; 236: 774-777.10.1016/S0021-9258(18)64307-8]Search in Google Scholar
[[22] Sit'aj Š, Červeňanský J, Urbánek T. Alkaptonúria a ochronóza, Bratislava, SAV, 1956, s. 156.]Search in Google Scholar
[[23] Sit'aj Š, Lagier R. Arthtopatia ochronotica. Acta Rheum Balneol Pist 1973; 7: 1-120.]Search in Google Scholar
[[24] Sit'aj Š, Arthropatia alcaptonurica. Bratisl Lek Listy 1947; 27: 1-9.]Search in Google Scholar
[[25] Skinsnes OK. Generalized ochronosis: Report of an instance in which it was misdiagnozed as melanosarcoma, with resultant enucleation of an eye. Arch Path 1948; 45: 552-558.]Search in Google Scholar
[[26] Sršeň S, Müller CR, Fregin, et al. Aalkaptunia in Slovakia: thirty-two years of research on phenotype and genotype. Mol Gen Metab 2002; 75: 353-359.10.1016/S1096-7192(02)00002-1]Search in Google Scholar
[[27] Sršeň Š, Neuwirth A. Náš metodický prístup k riešeniu otázky výskytu alkaptonúrie na Horných Kysuciach. Čas Lék Čes 1974; 113: 663-666.]Search in Google Scholar
[[28] Sršeň Š, Sršňová K, Koska L, et al. Alkaptonúria na Slov-ensku - dlhodobá štúdia. Čs Pediatr 1996; 51 (8): 453-456.]Search in Google Scholar
[[29] Sršen S. Príčiny vysokej frekvencie alkaptonurickej alely v SSR. In: Alkaptonuria. Sit'aj S, Hyanek J (eds). Vydavatel'stvo Osveta, Martin 1984; 48.]Search in Google Scholar
[[30] Sugar HS, Waddell WW. Ochronosis line pigmentation associated with the use of atabrine. Illinois Med J 1946; 89: 234-242.]Search in Google Scholar
[[31] Suwannarat P, O'Brien K, Perry MB, et al. Use of nitisinone in patients with alkaptonuria. Metabolism 2005; 54: 719-728.10.1016/j.metabol.2004.12.017]Search in Google Scholar
[[32] Trnavská Z. Amino-acids in alkaptonuia. In: Congres-sus rheumatologicus checoslovacus in Thermis Piešt'any 1960. Lenoch F, et al (eds). SzdN, Praha 1962; 99-104.]Search in Google Scholar
[[33] Turgay E, Canat D, Gurel MS, el al. Endogenous ochrono-sis. Clin Exp Dermatol 2009; 34: 865-868.10.1111/j.1365-2230.2009.03618.x]Search in Google Scholar
[[34] Urbánek T, Sit'aj Š. Súčasný výskyt alkaptonúrie, ochro-notickej artropatie a choroby Bechterevovej. Fysiatr Věs 1955; 33: 85-91.]Search in Google Scholar
[[35] Zat'ková A, Beltrán-Valero de Bernabé D, Poláková H, et al. Alelová heterogénnost' mutácií spôsobujúcich alkap-tonúriu a možné príčiny vysokého výskytu tejto choroby na Slovensku. Lek Obz 2000c; 49: 347-352.]Search in Google Scholar
[[36] Zat'ková A, Beltrán-Valero de Bernabe D, Poláková H, et al. High frequency of alkaptonuria in Slovakia. Evidence for the appearance on mutations in HGO involving diferent muta-tional hot spots. Am J Hum Genet 2000a; 67: 1333-1339.10.1016/S0002-9297(07)62964-4]Search in Google Scholar
[[37] Zat'ková A, Poláková H, Mičutková L, et al. Novel mutations in the homogentisate-1,2-dioxygenase gene iden-tifed in patients with alkaptonuria. J Med Genet; 2000b; 37: 539-542.10.1136/jmg.37.7.539173464010970188]Search in Google Scholar