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Journal Abstract Search

199 related items for PubMed ID: 24206226

  • 21. Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model.
    Tinti L, Spreafico A, Braconi D, Millucci L, Bernardini G, Chellini F, Cavallo G, Selvi E, Galeazzi M, Marcolongo R, Gallagher JA, Santucci A.
    J Cell Physiol; 2010 Oct; 225(1):84-91. PubMed ID: 20648626
    [Abstract] [Full Text] [Related]

  • 22. Alkaptonuria: a very rare metabolic disorder.
    Aquaron R.
    Indian J Biochem Biophys; 2013 Oct; 50(5):339-44. PubMed ID: 24772955
    [Abstract] [Full Text] [Related]

  • 23. Alkaptonuria is a novel human secondary amyloidogenic disease.
    Millucci L, Spreafico A, Tinti L, Braconi D, Ghezzi L, Paccagnini E, Bernardini G, Amato L, Laschi M, Selvi E, Galeazzi M, Mannoni A, Benucci M, Lupetti P, Chellini F, Orlandini M, Santucci A.
    Biochim Biophys Acta; 2012 Nov; 1822(11):1682-91. PubMed ID: 22850426
    [Abstract] [Full Text] [Related]

  • 24. Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.
    Danda S, Mohan S, Devaraj P, Dutta AK, Nampoothiri S, Yesodharan D, Phadke SR, Jalan AB, Thangaraj K, Verma IC, Danda D, Jebaraj I.
    Clin Rheumatol; 2020 Sep; 39(9):2743-2749. PubMed ID: 32212000
    [Abstract] [Full Text] [Related]

  • 25. Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/β-catenin signaling pathway.
    Schiavone ML, Millucci L, Bernardini G, Giustarini D, Rossi R, Marzocchi B, Santucci A.
    J Cell Physiol; 2020 Oct; 235(10):6808-6816. PubMed ID: 31989660
    [Abstract] [Full Text] [Related]

  • 26. Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins.
    Braconi D, Millucci L, Bernini A, Spiga O, Lupetti P, Marzocchi B, Niccolai N, Bernardini G, Santucci A.
    Biochim Biophys Acta Gen Subj; 2017 Feb; 1861(2):135-146. PubMed ID: 27865997
    [Abstract] [Full Text] [Related]

  • 27. A quantitative assessment of alkaptonuria: testing the reliability of two disease severity scoring systems.
    Cox TF, Ranganath L.
    J Inherit Metab Dis; 2011 Dec; 34(6):1153-62. PubMed ID: 21744089
    [Abstract] [Full Text] [Related]

  • 28. Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria.
    Hughes JH, Wilson PJM, Sutherland H, Judd S, Hughes AT, Milan AM, Jarvis JC, Bou-Gharios G, Ranganath LR, Gallagher JA.
    J Inherit Metab Dis; 2020 Mar; 43(2):259-268. PubMed ID: 31503358
    [Abstract] [Full Text] [Related]

  • 29. Amyloidosis in alkaptonuria.
    Millucci L, Braconi D, Bernardini G, Lupetti P, Rovensky J, Ranganath L, Santucci A.
    J Inherit Metab Dis; 2015 Sep; 38(5):797-805. PubMed ID: 25868666
    [Abstract] [Full Text] [Related]

  • 30. Biochemical and proteomic characterization of alkaptonuric chondrocytes.
    Braconi D, Bernardini G, Bianchini C, Laschi M, Millucci L, Amato L, Tinti L, Serchi T, Chellini F, Spreafico A, Santucci A.
    J Cell Physiol; 2012 Sep; 227(9):3333-43. PubMed ID: 22213341
    [Abstract] [Full Text] [Related]

  • 31. Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
    Nemethova M, Radvanszky J, Kadasi L, Ascher DB, Pires DE, Blundell TL, Porfirio B, Mannoni A, Santucci A, Milucci L, Sestini S, Biolcati G, Sorge F, Aurizi C, Aquaron R, Alsbou M, Lourenço CM, Ramadevi K, Ranganath LR, Gallagher JA, van Kan C, Hall AK, Olsson B, Sireau N, Ayoob H, Timmis OG, Sang KH, Genovese F, Imrich R, Rovensky J, Srinivasaraghavan R, Bharadwaj SK, Spiegel R, Zatkova A.
    Eur J Hum Genet; 2016 Jan; 24(1):66-72. PubMed ID: 25804398
    [Abstract] [Full Text] [Related]

  • 32. A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria.
    Tao L, Deng C, Ma M, Zhang Y, Duan J, Li Y, Fang L, Zhou Y, He X, Wang Y, Wang M, Li L.
    Clin Chim Acta; 2022 Jul 01; 532():164-171. PubMed ID: 35550814
    [Abstract] [Full Text] [Related]

  • 33. Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria.
    Grasso D, Geminiani M, Galderisi S, Iacomelli G, Peruzzi L, Marzocchi B, Santucci A, Bernini A.
    Int J Mol Sci; 2022 Dec 13; 23(24):. PubMed ID: 36555443
    [Abstract] [Full Text] [Related]

  • 34. Acute fatal metabolic complications in alkaptonuria.
    Davison AS, Milan AM, Gallagher JA, Ranganath LR.
    J Inherit Metab Dis; 2016 Mar 13; 39(2):203-10. PubMed ID: 26596578
    [Abstract] [Full Text] [Related]

  • 35. Natural history of alkaptonuria revisited: analyses based on scoring systems.
    Ranganath LR, Cox TF.
    J Inherit Metab Dis; 2011 Dec 13; 34(6):1141-51. PubMed ID: 21748407
    [Abstract] [Full Text] [Related]

  • 36. Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre.
    Ranganath LR, Khedr M, Milan AM, Davison AS, Hughes AT, Usher JL, Taylor S, Loftus N, Daroszewska A, West E, Jones A, Briggs M, Fisher M, McCormick M, Judd S, Vinjamuri S, Griffin R, Psarelli EE, Cox TF, Sireau N, Dillon JP, Devine JM, Hughes G, Harrold J, Barton GJ, Jarvis JC, Gallagher JA.
    Mol Genet Metab; 2018 Sep 13; 125(1-2):127-134. PubMed ID: 30055994
    [Abstract] [Full Text] [Related]

  • 37. The human gene for alkaptonuria (AKU) maps to chromosome 3q.
    Janocha S, Wolz W, Srsen S, Srsnova K, Montagutelli X, Guénet JL, Grimm T, Kress W, Müller CR.
    Genomics; 1994 Jan 01; 19(1):5-8. PubMed ID: 8188241
    [Abstract] [Full Text] [Related]

  • 38. Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
    Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A.
    Eur J Hum Genet; 2019 Jun 01; 27(6):888-902. PubMed ID: 30737480
    [Abstract] [Full Text] [Related]

  • 39. Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.
    Beltrán-Valero de Bernabé D, Granadino B, Chiarelli I, Porfirio B, Mayatepek E, Aquaron R, Moore MM, Festen JJ, Sanmartí R, Peñalva MA, de Córdoba SR.
    Am J Hum Genet; 1998 Apr 01; 62(4):776-84. PubMed ID: 9529363
    [Abstract] [Full Text] [Related]

  • 40. Alkaptonuria: Current Perspectives.
    Zatkova A, Ranganath L, Kadasi L.
    Appl Clin Genet; 2020 Apr 01; 13():37-47. PubMed ID: 32158253
    [Abstract] [Full Text] [Related]

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