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4. Homogentisic acid oxidase activity in homozygous and heterozygous alkaptonuric mice. Coudé M; Montagutelli X; Guenet JL; Kamoun P Ann Biol Clin (Paris); 1994; 52(7-8):569-70. PubMed ID: 7840434 [No Abstract] [Full Text] [Related]
5. Spectrophotometric determination of homogentisate using Aspergillus nidulans homogentisate dioxygenase. Fernández-Cañón JM; Peñalva MA Anal Biochem; 1997 Feb; 245(2):218-21. PubMed ID: 9056215 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria. Walter K; Gaa A; Schaefer HE J Med Genet; 1999 Aug; 36(8):645-6. PubMed ID: 10465119 [No Abstract] [Full Text] [Related]
8. aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16. Montagutelli X; Lalouette A; Coudé M; Kamoun P; Forest M; Guénet JL Genomics; 1994 Jan; 19(1):9-11. PubMed ID: 8188247 [TBL] [Abstract][Full Text] [Related]
9. Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation. Introne WJ; Phornphutkul C; Bernardini I; McLaughlin K; Fitzpatrick D; Gahl WA Mol Genet Metab; 2002; 77(1-2):136-42. PubMed ID: 12359141 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria. Zatková A; Polaková H; Micutková L; Zvarík M; Bosák V; Feráková E; Matusek J; Ferák V; Kádasi L J Med Genet; 2000 Jul; 37(7):539-42. PubMed ID: 10970188 [No Abstract] [Full Text] [Related]
12. Are we ready to try to cure alkaptonuria? La Du BN Am J Hum Genet; 1998 Apr; 62(4):765-7. PubMed ID: 9529368 [No Abstract] [Full Text] [Related]
13. Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene. Porfirio B; Chiarelli I; Graziano C; Mannoni A; Morrone A; Zammarchi E; De Bernabé DB; De Córdoba SR J Med Genet; 2000 Apr; 37(4):309-12. PubMed ID: 10819641 [No Abstract] [Full Text] [Related]
14. 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]
16. Alkaptonuria: tracked down to chromosome 3. McKusick VA Genomics; 1994 Jan; 19(1):3-4. PubMed ID: 8188236 [No Abstract] [Full Text] [Related]
17. Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood. Ramos SM; Hernández M; Roces A; Larruga JM; González P; González AM; Pinto FM; Cabrera VM Am J Med Genet; 1998 Jun; 78(2):192-4. PubMed ID: 9674916 [TBL] [Abstract][Full Text] [Related]
18. [Diagnostic image (45). Ochronosis]. ter Borg EJ Ned Tijdschr Geneeskd; 2001 Jul; 145(27):1295. PubMed ID: 11475020 [TBL] [Abstract][Full Text] [Related]
19. The incidence of alkaptonuria: a study in chemical individuality. 1902 [classical article]. Garrod AE Yale J Biol Med; 2002; 75(4):221-31. PubMed ID: 12784973 [No Abstract] [Full Text] [Related]
20. 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] [Next] [New Search]