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24. [Gene diagnosis of alkaptonuria in an infant]. Hu M; Ma HW; Luo Y; Wang L; Song Y; Li F Zhongguo Dang Dai Er Ke Za Zhi; 2012 Oct; 14(10):796-7. PubMed ID: 23092576 [No Abstract] [Full Text] [Related]
25. [Ochronosis: a case report with multisystemic affectation, including pericardium]. Cobos Soler FJ; Molero Cabrilla R An Med Interna; 2002 Nov; 19(11):583-5. PubMed ID: 12522896 [TBL] [Abstract][Full Text] [Related]
26. Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations. Uyguner O; Goicoechea de Jorge E; Cefle A; Baykal T; Kayserili H; Cefle K; Demirkol M; Yuksel-Apak M; Rodriguez de Córdoba S; Wollnik B J Inherit Metab Dis; 2003; 26(1):17-23. PubMed ID: 12872836 [TBL] [Abstract][Full Text] [Related]
27. Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse. Schmidt SR; Gehrig A; Koehler MR; Schmid M; Müller CR; Kress W Mamm Genome; 1997 Mar; 8(3):168-71. PubMed ID: 9069115 [TBL] [Abstract][Full Text] [Related]
28. Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). Beltrán-Valero de Bernabé D; Jimenez FJ; Aquaron R; Rodríguez de Córdoba S Am J Hum Genet; 1999 May; 64(5):1316-22. PubMed ID: 10205262 [TBL] [Abstract][Full Text] [Related]
29. Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Beltrán-Valero de Bernabé D; Granadino B; Chiarelli I; Porfirio B; Mayatepek E; Aquaron R; Moore MM; Festen JJ; Sanmartí R; Peñalva MA; de Córdoba SR Am J Hum Genet; 1998 Apr; 62(4):776-84. PubMed ID: 9529363 [TBL] [Abstract][Full Text] [Related]
30. Ascorbic acid and alkaptonuria. Kamoun P; Coude M; Forest M; Montagutelli X; Guenet JL Eur J Pediatr; 1992 Feb; 151(2):149. PubMed ID: 1537362 [No Abstract] [Full Text] [Related]
31. [Diagnostic image (45). Ochronosis]. ter Borg EJ Ned Tijdschr Geneeskd; 2001 Jul; 145(27):1295. PubMed ID: 11475020 [TBL] [Abstract][Full Text] [Related]
32. Structural and functional analysis of mutations in alkaptonuria. Rodríguez JM; Timm DE; Titus GP; Beltrán-Valero De Bernabé D; Criado O; Mueller HA; Rodríguez De Córdoba S; Peñalva MA Hum Mol Genet; 2000 Sep; 9(15):2341-50. PubMed ID: 11001939 [TBL] [Abstract][Full Text] [Related]
33. Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India. Danda S; Mohan S; Devaraj P; Dutta AK; Nampoothiri S; Yesodharan D; Phadke SR; Jalan AB; Thangaraj K; Verma IC; Danda D; Jebaraj I Clin Rheumatol; 2020 Sep; 39(9):2743-2749. PubMed ID: 32212000 [TBL] [Abstract][Full Text] [Related]
34. The human homogentisate 1,2-dioxygenase (HGO) gene. Granadino B; Beltrán-Valero de Bernabé D; Fernández-Cañón JM; Peñalva MA; Rodríguez de Córdoba S Genomics; 1997 Jul; 43(2):115-22. PubMed ID: 9244427 [TBL] [Abstract][Full Text] [Related]
35. Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD). Gucev ZS; Slaveska N; Laban N; Danilovski D; Tasic V; Pop-Jordanova N; Zatkova A Prilozi; 2011; 32(1):305-11. PubMed ID: 21822197 [TBL] [Abstract][Full Text] [Related]
36. Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype. Srsen S; Müller CR; Fregin A; Srsnova K Mol Genet Metab; 2002 Apr; 75(4):353-9. PubMed ID: 12051967 [TBL] [Abstract][Full Text] [Related]
37. High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Zatková A; de Bernabé DB; Poláková H; Zvarík M; Feráková E; Bosák V; Ferák V; Kádasi L; de Córdoba SR Am J Hum Genet; 2000 Nov; 67(5):1333-9. PubMed ID: 11017803 [TBL] [Abstract][Full Text] [Related]