Nine cases of Alkaptonuria in one family in southern Jordan
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy,Rheumatology
Link
http://link.springer.com/content/pdf/10.1007/s00296-010-1701-1.pdf
Reference25 articles.
1. Stenn FF, Milgram JW, Lee SL, Weigand RJ, Veis A (1977) Biochemical identification of homogentisic acid pigment in an ochronotic egyptian mummy. Science 197(4303):566–568
2. Idem (1908) The Croonian lectures on inborn errors of metabolism. Lecture II. Alkaptonuria. Lancet 2:73–79
3. La Du BN, Zannoni VG, Laster L, Seegmiller JE (1958) The nature of the defect in tyrosine metabolism in alcaptonuria. J Biol Chem 230(1):251–260
4. Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA et al (1996) The molecular basis of alkaptonuria. Nat Genet 14(1):19–24
5. Keller JM, Macaulay W, Nercessian OA, Jaffe IA (2005) New developments in ochronosis: review of the literature. Rheumatol Int 25(2):81–85
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