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References

These sources were used to develop the Genetics Home Reference condition summary on alkaptonuria.

Gene Review: Alkaptonuria
Lubics A, Schneider I, Sebök B, Havass Z. Extensive bluish gray skin pigmentation and severe arthropathy. Endogenous ochronosis (alkaptonuria). Arch Dermatol. 2000 Apr;136(4):548-9, 551-2. Review. PubMed citation
Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airó P, Cammelli D, Andreotti L, Marcolongo R, Porfirio B. Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin Arthritis Rheum. 2004 Feb;33(4):239-48. PubMed citation
Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. Natural history of alkaptonuria. N Engl J Med. 2002 Dec 26;347(26):2111-21. PubMed citation
Scriver, Charles R; The metabolic & molecular bases of inherited disease; 8th ed.; New York : McGraw-Hill, c2001. p2109-2123.

Reviewed: March 2007

Published: May 13, 2013