This page lists a comprehensive collection of the papers published by members of the findAKUre consortium, starting with the most recent.
Living with alkaptonuria.
Laxon S, Ranganath L, Timmis O.
British Medical Journal. 2011 Sep 29;343:d5155. doi: 10.1136/bmj.d5155.
MRI appearances of alkaptonuria.
Hamdulay S.
Arthritis and Rheumatism. 2011 Sep 27. doi: 10.1002/art.33357. [Epub ahead of print].
Ochronosis and calcification in the mediastinal mass of a patient with alkaptonuria.
Taylor AM, Batchelor TJ, Adams VL, Helliwell TR, Gallagher JA, Ranganath LR.
Journal of Clinical Pathology. 2011 Oct;64(10):935-6. Epub 2011 May 7.
Alkaptonuria: treasure your exceptions.
Cox TM.
Journal of Inherited Metabolic Disease. 2011 Sep 22. [Epub ahead of print]
Alkaptonuria in France: past experience and lessons for the future.
Aquaron RR.
Journal of Inherited Metabolic Disease. 2011 Sep 17. [Epub ahead of print]
Nuclear medicine techniques in the assessment of alkaptonuria.
Vinjamuri S, Ramesh CN, Jarvis J, Gallagher JA, Ranganath LL
Nuclear Medicine Communications. 2011 Oct;32(10):880-6.
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis.
Braconi D, Bianchini C, Bernardini G, Laschi M, Millucci L, Spreafico A, Santucci A.
Journal of Inherited Metabolic Disease. 2011 Aug 27. [Epub ahead of print]
Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD).
Gucev ZS, Slaveska N, Laban N, Danilovski D, Tasic V, Pop-Jordanova N, Zatkova A.
Prilozi. 2011 Jul;32(1):305-11.
A novel ex vivo organotypic culture model of alkaptonuria-ochronosis.
Tinti L, Spreafico A, Chellini F, Galeazzi M, Santucci A.
Clinical and Experimental Rheumatology. 2011 Sep 1 [Epub ahead of print]
Natural history of alkaptonuria revisited: analyses based on scoring systems.
Ranganath LR, Cox TF.
Journal of Inherited Metabolic Disease. 2011 Jul 12. [Epub ahead of print]
A quantitative assessment of alkaptonuria : Testing the reliability of two disease severity scoring systems.
Cox TF, Ranganath L.
Journal of Inherited Metabolic Disease. 2011 Jul 9. [Epub ahead of print]
Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, observed by solid state NMR.
Chow WY, Taylor AM, Reid DG, Gallagher JA, Duer MJ.
Journal of Inherited Metabolic Disease. 2011 Jul 7. [Epub ahead of print]
An update on molecular genetics of Alkaptonuria (AKU).
Zatkova A.
Journal of Inherited Metabolic Disease. 2011 Jul 1. [Epub ahead of print]
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O’Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I, Gahl WA.
Molecular Genetic Metabolism. 2011 May 6. [Epub ahead of print]
Ochronosis and calcification in the mediastinal mass of a patient with alkaptonuria.
Taylor AM, Batchelor TJ, Adams VL, Helliwell TR, Gallagher JA, Ranganath LR.
Journal of Clinical Pathology. 2011 May 7. [Epub ahead of print]
Cardiovascular manifestations of Alkaptonuria.
Pettit SJ, Fisher M, Gallagher JA, Ranganath LR.
Journal of Inherited Metabolic Diseases. 2011 Apr 20. [Epub ahead of print]
Identification of Alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers.
Ranganath L, Taylor AM, Shenkin A, Fraser WD, Jarvis J, Gallagher JA, Sireau N
Journal of Inherited Metabolic Diseases. 2011 Feb 11. [Epub ahead of print]
Alkaptonuria–a review of surgical and autopsy pathology.
Helliwell TR, Gallagher JA, Ranganath L.
Histopathology. (2008) 53:503-12.
Calculi and intracellular ochronosis in the submandibular tissues from a patient with alkaptonuria.
Taylor AM, Wilson PJM, Ingrams DR, Helliwell TR, Gallagher JA, & Ranganath LR.
J Clin Path. (2010) 63:186-8.
Ultrastructural examination of tissue in a patient with alkaptonuric arthropathy reveals a distinct pattern of binding of ochronotic pigment.
Taylor AM, Wlodarski B, Prior IA, Wilson PJM, Jarvis JC, Ranganth LR, Gallagher JA.
Rheumatology: (2010) Jul;49(7):1412-4.
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.
Journal of Cellular Physiology (2010) Oct;225(1):84-91
Proteomic and redox-proteomic evaluation of homogentisic acid and ascorbic acid effects on human articular chondrocytes.
Braconi D, Laschi M, Taylor AM, Bernardini G, Spreafico A, Tinti L, Gallagher JA, Santucci A.
Journal of Cellular Biochemistry. (2010) Nov 1;111(4):922-32.
Development of an in vitro model to investigate joint ochronosis in alkaptonuria.
Tinti L, Taylor AM, Santucci A, Wlodarski B, Wilson PJ, Jarvis JC, Fraser WD, Davidson JS, Ranganath LR, Gallagher JA.
Rheumatology (Oxford). (2011) Feb;50(2):271-7
