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All › Congenital, Hereditary, and Neonatal Diseases and Abnormalities › Genetic Diseases, Inborn › Metabolism, Inborn Errors › Amino Acid Metabolism, Inborn Errors › Alkaptonuria

Alkaptonuria (0)

      Articles on Alkaptonuria

      1. Biochemical and proteomic characterization of alkaptonuric chondrocytes.
        Daniela Braconi, Giulia Bernardini, ... Annalisa Santucci

        J Cell Physiol 227(9):3333-43 (2012) PMID 22213341 PMCID PMC3427902

        We characterized biochemically chondrocytes isolated from the ochronotic cartilage of AKU patients. Based on the macroscopic appearance of the ochronotic cartilage, two sub-populations were identified: cells coming from the black portion of the cartilage were referred to as "black" AKU chondrocytes,...
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      2. Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model.
        Laura Tinti, Adriano Spreafico, ... Annalisa Santucci

        J Cell Physiol 225(1):84-91 (2010) PMID 20648626

        We propose a new treatment for AKU using the antioxidant N-acetylcysteine (NAC) administered in combinations with ascorbic acid (ASC) since it has been proven that NAC counteracts the side-effects of ASC. We established an in vitro cell model using human articular primary chondrocytes challenged wit...
      3. Archibald Edward Garrod and alcaptonuria: "Inborn errors of metabolism" revisited.
        Anna Piro, Giuseppe Tagarelli, ... Antonio Tagarelli

        Genet Med 12(8):475-6 (2010) PMID 20703138

      4. Homogentisic acid interference in routine urine creatinine determination
        Perry R PR Loken, Mark J MJ Magera, ... Kimiyo K Raymond

        Mol Genet Metab 100(1):2 (2010) PMID 20138792

        We report the artifactual elevation of homogentisic acid (HGA) in urine from alkaptonuric patients after replacing the creatinine method (Jaffe reaction) in our laboratory with an automated enzymatic method. Samples with elevated HGA by GC-MS had lower creatinine values as determined by the enzymati...
      5. [Osteoarthritis in hereditary metabolic diseases].
        J Zwerina and T Dallos

        Z Rheumatol 69(3):227-35; quiz 236 (2010) PMID 20300760

        Primary osteoarthritis (OA) of peripheral joints is a common disease mainly occurring after the age of 50. It is important to distinguish primary from secondary OA. Younger age at disease onset, rapid progression, unusual disease manifestations and co-morbidities are signs of secondary OA. This revi...
      6. [Alkaptonuric rheumatism].
        N N Khammassi, D D Mohsen, ... M M Hamza

        Tunis Med 88(2):133-4 (2010) PMID 20415179

      7. [Clinical eye for blue-coloured ears lead to the correct diagnosis: alkaptonuria].
        Anette A Aldenbratt, Karin K Rosén, and Robert R Eggertsen

        Lakartidningen 107(44):2718-9 (2010) PMID 21179878

      8. Ashy ears.
        Efstathios E Rallis and Stephanos S Kintzoglou

        ScientificWorldJournal (2010) PMID 20694448

      9. False proteinuria in patients with alkaptonuria.
        E E Selvi, E E Garcia-Gonzalez, ... M M Galeazzi

        Clin Exp Rheumatol 28(4):591 (2010) PMID 20659416

      10. Osteoarthritis? Ochronotic arthritis! A case study and review of the literature.
        Bao Hui Zhao, Bai Cheng Chen, ... Qi Zhang

        Knee Surg Sports Traumatol Arthrosc 17(7):778-81 (2009) PMID 19381613

        We reported a case of a patient of ochronotic arthritis, arthroscopic findings showed large areas of darkly pigmented full-thickness cartilage defects in the right knee, the whole meniscal parenchymatous tissue was also darkly pigmented. Histological investigation proved to be ochronosis....