These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
160 related articles for article (PubMed ID: 32212000)
21. 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]
22. 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]
23. Clinical presentation of 13 children with alkaptonuria. Kujawa MJ; Świętoń D; Wierzba J; Grzywińska M; Budziło O; Limanówka M; Pierzynowska K; Gaffke L; Grabowski Ł; Cyske Z; Rintz E; Rąbalski Ł; Kosiński M; Węgrzyn G; Mański A; Anikiej-Wiczenbach P; Ranganath L; Piskunowicz M J Inherit Metab Dis; 2023 Sep; 46(5):916-930. PubMed ID: 37395296 [TBL] [Abstract][Full Text] [Related]
24. Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene. Goicoechea De Jorge E; Lorda I; Gallardo ME; Pérez B; Peréz De Ferrán C; Mendoza H; Rodríguez De Córdoba S J Med Genet; 2002 Jul; 39(7):E40. PubMed ID: 12114497 [No Abstract] [Full Text] [Related]
25. Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database. Zatkova A; Sedlackova T; Radvansky J; Polakova H; Nemethova M; Aquaron R; Dursun I; Usher JL; Kadasi L JIMD Rep; 2012; 4():55-65. PubMed ID: 23430897 [TBL] [Abstract][Full Text] [Related]
26. Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria. Bernini A; Spiga O; Santucci A Curr Protein Pept Sci; 2023; 24(5):380-392. PubMed ID: 36880186 [TBL] [Abstract][Full Text] [Related]
27. Mutational analysis of the HGO gene in Finnish alkaptonuria patients. Beltrán-Valero de Bernabé D; Peterson P; Luopajärvi K; Matintalo P; Alho A; Konttinen Y; Krohn K; Rodríguez de Córdoba S; Ranki A J Med Genet; 1999 Dec; 36(12):922-3. PubMed ID: 10594001 [TBL] [Abstract][Full Text] [Related]
28. Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients. Soltysova A; Sekelska M; Zatkova A Eur J Hum Genet; 2023 Apr; 31(4):485-489. PubMed ID: 35110678 [TBL] [Abstract][Full Text] [Related]
29. A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria. Lequeue S; Neuckermans J; Nulmans I; Schwaneberg U; Vanhaecke T; De Kock J Sci Rep; 2022 Nov; 12(1):19452. PubMed ID: 36376482 [TBL] [Abstract][Full Text] [Related]
30. The molecular basis of alkaptonuria. Fernández-Cañón JM; Granadino B; Beltrán-Valero de Bernabé D; Renedo M; Fernández-Ruiz E; Peñalva MA; Rodríguez de Córdoba S Nat Genet; 1996 Sep; 14(1):19-24. PubMed ID: 8782815 [TBL] [Abstract][Full Text] [Related]
31. The human gene for alkaptonuria (AKU) maps to chromosome 3q. Janocha S; Wolz W; Srsen S; Srsnova K; Montagutelli X; Guénet JL; Grimm T; Kress W; Müller CR Genomics; 1994 Jan; 19(1):5-8. PubMed ID: 8188241 [TBL] [Abstract][Full Text] [Related]
33. Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria. Laschi M; Tinti L; Braconi D; Millucci L; Ghezzi L; Amato L; Selvi E; Spreafico A; Bernardini G; Santucci A J Cell Physiol; 2012 Sep; 227(9):3254-7. PubMed ID: 22105303 [TBL] [Abstract][Full Text] [Related]
34. Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism. Norman BP; Davison AS; Hughes JH; Sutherland H; Wilson PJ; Berry NG; Hughes AT; Milan AM; Jarvis JC; Roberts NB; Ranganath LR; Bou-Gharios G; Gallagher JA Genes Dis; 2022 Jul; 9(4):1129-1142. PubMed ID: 35685462 [TBL] [Abstract][Full Text] [Related]
35. Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. Usher JL; Ascher DB; Pires DE; Milan AM; Blundell TL; Ranganath LR JIMD Rep; 2015; 24():3-11. PubMed ID: 25681086 [TBL] [Abstract][Full Text] [Related]