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Journal Abstract Search
270 related items for PubMed ID: 21748407
1. Natural history of alkaptonuria revisited: analyses based on scoring systems. Ranganath LR, Cox TF. J Inherit Metab Dis; 2011 Dec; 34(6):1141-51. PubMed ID: 21748407 [Abstract] [Full Text] [Related]
5. Homogentisic acid induces morphological and mechanical aberration of ochronotic cartilage in alkaptonuria. Bernardini G, Leone G, Millucci L, Consumi M, Braconi D, Spiga O, Galderisi S, Marzocchi B, Viti C, Giorgetti G, Lupetti P, Magnani A, Santucci A. J Cell Physiol; 2019 May; 234(5):6696-6708. PubMed ID: 30341892 [Abstract] [Full Text] [Related]
6. Evaluating the aortic stenosis phenotype before and after the effect of homogentisic acid lowering therapy: Analysis of a large cohort of eighty-one alkaptonuria patients. Ranganath LR, Heseltine T, Khedr M, Fisher MF. Mol Genet Metab; 2021 Jul; 133(3):324-331. PubMed ID: 34059444 [Abstract] [Full Text] [Related]
8. Natural history of alkaptonuria. Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. N Engl J Med; 2002 Dec 26; 347(26):2111-21. PubMed ID: 12501223 [Abstract] [Full Text] [Related]
9. An update on molecular genetics of Alkaptonuria (AKU). Zatkova A. J Inherit Metab Dis; 2011 Dec 26; 34(6):1127-36. PubMed ID: 21720873 [Abstract] [Full Text] [Related]
11. Inhibition of para-Hydroxyphenylpyruvate Dioxygenase by Analogues of the Herbicide Nitisinone As a Strategy to Decrease Homogentisic Acid Levels, the Causative Agent of Alkaptonuria. Laschi M, Bernardini G, Dreassi E, Millucci L, Geminiani M, Braconi D, Marzocchi B, Botta M, Manetti F, Santucci A. ChemMedChem; 2016 Apr 05; 11(7):674-8. PubMed ID: 26947423 [Abstract] [Full Text] [Related]
14. Alkaptonuria in Russia. Soltysova A, Kuzin A, Samarkina E, Zatkova A. Eur J Hum Genet; 2022 Feb 05; 30(2):237-242. PubMed ID: 34504318 [Abstract] [Full Text] [Related]
18. Use of nitisinone in patients with alkaptonuria. Suwannarat P, O'Brien K, Perry MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, Rubin BI, Tsilou E, Gerber LH, Gahl WA. Metabolism; 2005 Jun 05; 54(6):719-28. PubMed ID: 15931605 [Abstract] [Full Text] [Related]
20. Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria. Arnoux JB, Le Quan Sang KH, Brassier A, Grisel C, Servais A, Wippf J, Dubois S, Sireau N, Job-Deslandre C, Ranganath L, de Lonlay P. J Inherit Metab Dis; 2015 Sep 05; 38(5):791-6. PubMed ID: 25860819 [Abstract] [Full Text] [Related] Page: [Next] [New Search]