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MeSH Review

Alkaptonuria

 
 
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Disease relevance of Alkaptonuria

 

High impact information on Alkaptonuria

 

Chemical compound and disease context of Alkaptonuria

 

Anatomical context of Alkaptonuria

 

Gene context of Alkaptonuria

 

Analytical, diagnostic and therapeutic context of Alkaptonuria

References

  1. In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I. Manning, K., Al-Dhalimy, M., Finegold, M., Grompe, M. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  2. Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain. Suwannarat, P., Phornphutkul, C., Bernardini, I., Turner, M., Gahl, W.A. Arthritis Rheum. (2004) [Pubmed]
  3. The effects of metabolic diseases on the cardiovascular system. Gilbert, E.F. The American journal of cardiovascular pathology. (1987) [Pubmed]
  4. Aortic stenosis and coronary artery disease caused by alkaptonuria, a rare genetic metabolic syndrome. Vavuranakis, M., Triantafillidi, H., Stefanadis, C., Toutouzas, P. Cardiology (1998) [Pubmed]
  5. HLA antigens and alkaptonuria. Pourel, G.J., Raffoux, C., Faure, G., Netter, P., Streiff, F. The Journal of rheumatology. Supplement. (1977) [Pubmed]
  6. The molecular basis of alkaptonuria. Fernández-Cañón, J.M., Granadino, B., Beltrán-Valero de Bernabé, D., Renedo, M., Fernández-Ruiz, E., Peñalva, M.A., Rodríguez de Córdoba, S. Nat. Genet. (1996) [Pubmed]
  7. Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Pollak, M.R., Chou, Y.H., Cerda, J.J., Steinmann, B., La Du, B.N., Seidman, J.G., Seidman, C.E. Nat. Genet. (1993) [Pubmed]
  8. 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, M.M., Festen, J.J., Sanmartí, R., Peñalva, M.A., de Córdoba, S.R. Am. J. Hum. Genet. (1998) [Pubmed]
  9. Fungal metabolic model for human type I hereditary tyrosinaemia. Fernández-Cañón, J.M., Peñalva, M.A. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  10. Interference in urine oxalate assay (sigma diagnostics oxalate oxidase method) from homogentisic acid in alkaptonuria. Biggs, P.A., Middleton, J.E., Welch, R.P. Clin. Chem. (1986) [Pubmed]
  11. Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Wolff, J.A., Barshop, B., Nyhan, W.L., Leslie, J., Seegmiller, J.E., Gruber, H., Garst, M., Winter, S., Michals, K., Matalon, R. Pediatr. Res. (1989) [Pubmed]
  12. The human homogentisate 1,2-dioxygenase (HGO) gene. Granadino, B., Beltrán-Valero de Bernabé, D., Fernández-Cañón, J.M., Peñalva, M.A., Rodríguez de Córdoba, S. Genomics (1997) [Pubmed]
  13. Ochronotic arthropathy: disappearance of alkaptonuria after liver transplantation for hepatitis B-related cirrhosis. Kobak, A.C., Oder, G., Kobak, S., Argin, M., Inal, V. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases. (2005) [Pubmed]
  14. Cloning of the homogentisate 1,2-dioxygenase gene, the key enzyme of alkaptonuria in mouse. Schmidt, S.R., Gehrig, A., Koehler, M.R., Schmid, M., Müller, C.R., Kress, W. Mamm. Genome (1997) [Pubmed]
  15. Use of nitisinone in patients with alkaptonuria. Suwannarat, P., O'Brien, K., Perry, M.B., Sebring, N., Bernardini, I., Kaiser-Kupfer, M.I., Rubin, B.I., Tsilou, E., Gerber, L.H., Gahl, W.A. Metab. Clin. Exp. (2005) [Pubmed]
  16. Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria. Walter, K., Gaa, A., Schaefer, H.E. J. Med. Genet. (1999) [Pubmed]
  17. Urinary homogentisic acid in alkaptonuric and healthy children. Oláh, A.V., Llyés, I., Szoke, A., Csízy, I., Tóth, J., Varga, J. Clin. Chem. Lab. Med. (2003) [Pubmed]
  18. Diagnosis of alkaptonuria by NMR urinalysis: rapid qualitative and quantitative analysis of homogentisic acid. Yamaguchi, S., Koda, N., Ohashi, T. Tohoku J. Exp. Med. (1986) [Pubmed]
 
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