نتایج جستجو برای: ochronosis

تعداد نتایج: 209  

Journal: :Annals of Saudi medicine 1998
M Al Essa L Al-Shamsan M S Rashed P T Ozand

Alkaptonuria (McKusick 203500) is a rare metabolic disease characterized by a triad of homogentisic aciduria, arthritis and ochronosis. It enjoys the historic distinction of being one of the first conditions in which mendelian recessive inheritance was proposed and is also one of the conditions in the charter of group of inborn errors of metabolism. It is of interest to note that the disease wa...

Journal: :Clinical and experimental rheumatology 2010
E Selvi E Garcia-Gonzalez R Maggio S Lorenzini A Santucci M Galeazzi

False proteinuria in patients with alkaptonuria Sirs, Alkaptonuria (AKU) is a rare autosomal re-cessive disorder characterised by the inability to metabolise homogentisic acid (HGA). In the absence of HGA oxidase, HGA is rapidly oxidised to benzoquinone acetic acid, which polymerises to a melanin-like pigment and deposits in connective tissue. Mus-culoskeletal involvement (ochronosis) is the mo...

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