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Alkaptonuria, ochronosis, and ochronotic arthropathy.

Seminars in arthritis and rheumatism - 1 Feb 2004

Mannoni Alessandro, Selvi Enrico, Lorenzini Sauro, Giorgi Massimo, Airó Paolo, Cammelli Daniele, Andreotti Lupo, Marcolongo Roberto, Porfirio Berardino

Abstract excerpt

OBJECTIVES: To describe the clinical presentation and course of a relatively large group of Italian adult patients screened for mutation of the homogentisate dioxygenase gene causing alkaptonuria (AKU) and ochronosis, and to review typical and atypical facets of this condition. METHODS: We reviewed the medical records of 9 patients affected by ochronotic arthropathy who were observed in our institutions between...

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PMID: 14978662
DOI: 10.1053/s0049-0172(03)00080-5

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