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Items: 1 to 50 of 64

1.

A Comprehensive LC-QTOF-MS Metabolic Phenotyping Strategy: Application to Alkaptonuria.

Norman BP, Davison AS, Ross GA, Milan AM, Hughes AT, Sutherland H, Jarvis JC, Roberts NB, Gallagher JA, Ranganath LR.

Clin Chem. 2019 Apr;65(4):530-539. doi: 10.1373/clinchem.2018.295345. Epub 2019 Feb 19.

PMID:
30782595
2.

Evaluation of the Mitra microsampling device for use with key urinary metabolites in patients with Alkaptonuria.

Taylor JM, Hughes AT, Milan AM, Rudge J, Davison AS, Ranganath LR.

Bioanalysis. 2018 Dec;10(23):1919-1932. doi: 10.4155/bio-2018-0193. Epub 2018 Nov 6.

PMID:
30412682
3.

Data on items of AKUSSI in Alkaptonuria collected over three years from the United Kingdom National Alkaptonuria Centre and the impact of nitisinone.

Griffin R, Psarelli EE, Cox TF, 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, Sireau N, Dillon JP, Devine JM, Hughes G, Harrold J, Barton GJ, Jarvis JC, Gallagher JA, Ranganath LR.

Data Brief. 2018 Sep 12;20:1620-1628. doi: 10.1016/j.dib.2018.09.021. eCollection 2018 Oct.

4.

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;125(1-2):127-134. doi: 10.1016/j.ymgme.2018.07.011. Epub 2018 Jul 24.

PMID:
30055994
5.

Clinical and biochemical assessment of depressive symptoms in patients with Alkaptonuria before and after two years of treatment with nitisinone.

Davison AS, Harrold JA, Hughes G, Norman BP, Devine J, Usher J, Hughes AT, Khedr M, Gallagher JA, Milan AM, J C G H, Ranganath LR.

Mol Genet Metab. 2018 Sep;125(1-2):135-143. doi: 10.1016/j.ymgme.2018.07.008. Epub 2018 Jul 19.

PMID:
30049652
6.

Inflammatory and oxidative stress biomarkers in alkaptonuria: data from the DevelopAKUre project.

Braconi D, Giustarini D, Marzocchi B, Peruzzi L, Margollicci M, Rossi R, Bernardini G, Millucci L, Gallagher JA, Le Quan Sang KH, Imrich R, Rovensky J, Al-Sbou M, Ranganath LR, Santucci A.

Osteoarthritis Cartilage. 2018 Aug;26(8):1078-1086. doi: 10.1016/j.joca.2018.05.017. Epub 2018 May 29.

PMID:
29852277
7.

Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone.

Davison AS, Norman BP, Smith EA, Devine J, Usher J, Hughes AT, Khedr M, Milan AM, Gallagher JA, Ranganath LR.

JIMD Rep. 2018;41:109-117. doi: 10.1007/8904_2018_109. Epub 2018 May 13.

8.

Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment.

Davison AS, Norman B, Milan AM, Hughes AT, Khedr M, Rovensky J, Gallagher JA, Ranganath LR.

JIMD Rep. 2018;41:1-10. doi: 10.1007/8904_2017_72. Epub 2017 Nov 17.

9.

Asymptomatic Corneal Keratopathy Secondary to Hypertyrosinaemia Following Low Dose Nitisinone and a Literature Review of Tyrosine Keratopathy in Alkaptonuria.

Khedr M, Judd S, Briggs MC, Hughes AT, Milan AM, Stewart RMK, Lock EA, Gallagher JA, Ranganath LR.

JIMD Rep. 2018;40:31-37. doi: 10.1007/8904_2017_62. Epub 2017 Sep 24.

10.

The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool.

Milan AM, Hughes AT, Davison AS, Devine J, Usher J, Curtis S, Khedr M, Gallagher JA, Ranganath LR.

Ann Clin Biochem. 2017 May;54(3):323-330. doi: 10.1177/0004563217691065. Epub 2017 Mar 16.

PMID:
28081634
11.

Cartilage biomarkers in the osteoarthropathy of alkaptonuria reveal low turnover and accelerated ageing.

Taylor AM, Hsueh MF, Ranganath LR, Gallagher JA, Dillon JP, Huebner JL, Catterall JB, Kraus VB.

Rheumatology (Oxford). 2017 Jan;56(1):156-164. doi: 10.1093/rheumatology/kew355. Epub 2016 Oct 7.

12.

Interpreting sources of variation in clinical gait analysis: A case study.

King SL, Barton GJ, Ranganath LR.

Gait Posture. 2017 Feb;52:1-4. doi: 10.1016/j.gaitpost.2016.10.022. Epub 2016 Nov 8.

PMID:
27842282
13.

Alkaptonuria: An example of a "fundamental disease"--A rare disease with important lessons for more common disorders.

Gallagher JA, Dillon JP, Sireau N, Timmis O, Ranganath LR.

Semin Cell Dev Biol. 2016 Apr;52:53-7. doi: 10.1016/j.semcdb.2016.02.020. Epub 2016 Feb 16. Review.

PMID:
26891864
14.

What does the arthropathy of alkaptonuria teach us about disease mechanisms in osteoarthritis and ageing of joints?

Gallagher JA, Ranganath LR, Boyde A.

Rheumatology (Oxford). 2016 Jul;55(7):1151-2. doi: 10.1093/rheumatology/kev401. Epub 2015 Dec 27. No abstract available.

PMID:
26712212
15.

Acute fatal metabolic complications in alkaptonuria.

Davison AS, Milan AM, Gallagher JA, Ranganath LR.

J Inherit Metab Dis. 2016 Mar;39(2):203-10. doi: 10.1007/s10545-015-9902-0. Epub 2015 Nov 23. Review.

PMID:
26596578
16.

ENT manifestations of alkaptonuria: report on a case series.

Steven RA, Kinshuck AJ, McCormick MS, Ranganath LR.

J Laryngol Otol. 2015 Oct;129(10):1004-8. doi: 10.1017/S0022215115002315.

PMID:
26446762
17.

Progress in Alkaptonuria--are we near to an effective therapy?

Ranganath LR, Timmis OG, Gallagher JA.

J Inherit Metab Dis. 2015 Sep;38(5):787-9. doi: 10.1007/s10545-015-9888-7. No abstract available.

PMID:
26280757
18.

The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Chemical Analysis.

Roberts NB, Curtis SA, Milan AM, Ranganath LR.

JIMD Rep. 2015;24:51-66. doi: 10.1007/8904_2015_453. Epub 2015 Jun 21.

19.

Lessons from rare diseases of cartilage and bone.

Gallagher JA, Ranganath LR, Boyde A.

Curr Opin Pharmacol. 2015 Jun;22:107-14. doi: 10.1016/j.coph.2015.04.002. Epub 2015 May 14. Review.

PMID:
25978274
20.

Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice.

Keenan CM, Preston AJ, Sutherland H, Wilson PJ, Psarelli EE, Cox TF, Ranganath LR, Jarvis JC, Gallagher JA.

JIMD Rep. 2015;24:45-50. doi: 10.1007/8904_2015_437. Epub 2015 May 5.

21.

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. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25.

22.

Age-Related Deviation of Gait from Normality in Alkaptonuria.

Barton GJ, King SL, Robinson MA, Hawken MB, Ranganath LR.

JIMD Rep. 2015;24:39-44. doi: 10.1007/8904_2015_431. Epub 2015 Mar 19.

23.

Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in Alkaptonuria.

Genovese F, Siebuhr AS, Musa K, Gallagher JA, Milan AM, Karsdal MA, Rovensky J, Bay-Jensen AC, Ranganath LR.

JIMD Rep. 2015;24:29-37. doi: 10.1007/8904_2015_430. Epub 2015 Mar 19.

24.

Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alkaptonuria.

Olsson B, Cox TF, Psarelli EE, Szamosi J, Hughes AT, Milan AM, Hall AK, Rovensky J, Ranganath LR.

JIMD Rep. 2015;24:21-7. doi: 10.1007/8904_2015_412. Epub 2015 Mar 13.

25.

Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.

Usher JL, Ascher DB, Pires DE, Milan AM, Blundell TL, Ranganath LR.

JIMD Rep. 2015;24:3-11. doi: 10.1007/8904_2014_380. Epub 2015 Feb 15.

26.

Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry.

Hughes AT, Milan AM, Davison AS, Christensen P, Ross G, Gallagher JA, Dutton JJ, Ranganath LR.

Ann Clin Biochem. 2015 Sep;52(Pt 5):597-605. doi: 10.1177/0004563215571969. Epub 2015 Jan 27.

PMID:
25628464
27.

Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment.

Ranganath LR, Milan AM, Hughes AT, Dutton JJ, Fitzgerald R, Briggs MC, Bygott H, Psarelli EE, Cox TF, Gallagher JA, Jarvis JC, van Kan C, Hall AK, Laan D, Olsson B, Szamosi J, Rudebeck M, Kullenberg T, Cronlund A, Svensson L, Junestrand C, Ayoob H, Timmis OG, Sireau N, Le Quan Sang KH, Genovese F, Braconi D, Santucci A, Nemethova M, Zatkova A, McCaffrey J, Christensen P, Ross G, Imrich R, Rovensky J.

Ann Rheum Dis. 2016 Feb;75(2):362-7. doi: 10.1136/annrheumdis-2014-206033. Epub 2014 Dec 4.

PMID:
25475116
28.

The role of nitisinone in tyrosine pathway disorders.

Lock E, Ranganath LR, Timmis O.

Curr Rheumatol Rep. 2014 Nov;16(11):457. doi: 10.1007/s11926-014-0457-0. Review.

PMID:
25266991
29.

Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects.

Davison AS, Milan AM, Hughes AT, Dutton JJ, Ranganath LR.

Clin Chem Lab Med. 2015 Feb;53(3):e81-3. doi: 10.1515/cclm-2014-0668. No abstract available.

PMID:
25252754
30.

On fragmenting, densely mineralised acellular protrusions into articular cartilage and their possible role in osteoarthritis.

Boyde A, Davis GR, Mills D, Zikmund T, Cox TM, Adams VL, Niker A, Wilson PJ, Dillon JP, Ranganath LR, Jeffery N, Jarvis JC, Gallagher JA.

J Anat. 2014 Oct;225(4):436-46. doi: 10.1111/joa.12226. Epub 2014 Jul 31.

31.

Urine homogentisic acid and tyrosine: simultaneous analysis by liquid chromatography tandem mass spectrometry.

Hughes AT, Milan AM, Christensen P, Ross G, Davison AS, Gallagher JA, Dutton JJ, Ranganath LR.

J Chromatogr B Analyt Technol Biomed Life Sci. 2014 Jul 15;963:106-12. doi: 10.1016/j.jchromb.2014.06.002. Epub 2014 Jun 7.

PMID:
24952314
32.

Interferences of homogentisic acid (HGA) on routine clinical chemistry assays in serum and urine and the implications for biochemical monitoring of patients with alkaptonuria.

Curtis SL, Roberts NB, Ranganath LR.

Clin Biochem. 2014 May;47(7-8):640-7. doi: 10.1016/j.clinbiochem.2013.12.016. Epub 2013 Dec 27.

PMID:
24373924
33.

Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone.

Preston AJ, Keenan CM, Sutherland H, Wilson PJ, Wlodarski B, Taylor AM, Williams DP, Ranganath LR, Gallagher JA, Jarvis JC.

Ann Rheum Dis. 2014 Jan;73(1):284-9. doi: 10.1136/annrheumdis-2012-202878. Epub 2013 Mar 19.

PMID:
23511227
34.
35.

Recent advances in management of alkaptonuria (invited review; best practice article).

Ranganath LR, Jarvis JC, Gallagher JA.

J Clin Pathol. 2013 May;66(5):367-73. doi: 10.1136/jclinpath-2012-200877. Epub 2013 Mar 13. Review.

PMID:
23486607
36.

Ochronosis in a murine model of alkaptonuria is synonymous to that in the human condition.

Taylor AM, Preston AJ, Paulk NK, Sutherland H, Keenan CM, Wilson PJ, Wlodarski B, Grompe M, Ranganath LR, Gallagher JA, Jarvis JC.

Osteoarthritis Cartilage. 2012 Aug;20(8):880-6. doi: 10.1016/j.joca.2012.04.013. Epub 2012 Apr 24.

37.

Identification of trabecular excrescences, novel microanatomical structures, present in bone in osteoarthropathies.

Taylor AM, Boyde A, Davidson JS, Jarvis JC, Ranganath LR, Gallagher JA.

Eur Cell Mater. 2012 Apr 21;23:300-8; discussion 308-9.

38.

The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria.

Taylor AM, Boyde A, Wilson PJ, Jarvis JC, Davidson JS, Hunt JA, Ranganath LR, Gallagher JA.

Arthritis Rheum. 2011 Dec;63(12):3887-96. doi: 10.1002/art.30606.

39.

Receptors and effects of gut hormones in three osteoblastic cell lines.

Pacheco-Pantoja EL, Ranganath LR, Gallagher JA, Wilson PJ, Fraser WD.

BMC Physiol. 2011 Jul 29;11:12. doi: 10.1186/1472-6793-11-12.

40.

Natural history of alkaptonuria revisited: analyses based on scoring systems.

Ranganath LR, Cox TF.

J Inherit Metab Dis. 2011 Dec;34(6):1141-51. doi: 10.1007/s10545-011-9374-9. Epub 2011 Jul 12.

PMID:
21748407
41.

Ochronosis and calcification in the mediastinal mass of a patient with alkaptonuria.

Taylor AM, Batchelor TJ, Adams VL, Helliwell TR, Gallagher JA, Ranganath LR.

J Clin Pathol. 2011 Oct;64(10):935-6. doi: 10.1136/jcp.2011.090126. Epub 2011 May 7. No abstract available.

PMID:
21551467
42.

Cardiovascular manifestations of Alkaptonuria.

Pettit SJ, Fisher M, Gallagher JA, Ranganath LR.

J Inherit Metab Dis. 2011 Dec;34(6):1177-81. doi: 10.1007/s10545-011-9339-z. Epub 2011 Apr 20.

PMID:
21506017
43.

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. doi: 10.1093/rheumatology/keq246. Epub 2010 Oct 15.

PMID:
20952450
44.

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 PJ, Jarvis JC, Ranganath LR, Gallagher JA.

Rheumatology (Oxford). 2010 Jul;49(7):1412-4. doi: 10.1093/rheumatology/keq027. Epub 2010 Feb 24. No abstract available.

PMID:
20181670
45.

Calculi and intracellular ochronosis in the submandibular tissues from a patient with alkaptonuria.

Taylor AM, Wilson PJ, Ingrams DR, Helliwell TR, Gallagher JA, Ranganath LR.

J Clin Pathol. 2010 Feb;63(2):186-8. doi: 10.1136/jcp.2009.071365.

PMID:
20154043
46.

Circulating ghrelin exists in both lipoprotein bound and free forms.

Holmes E, Davies I, Lowe G, Ranganath LR.

Ann Clin Biochem. 2009 Nov;46(Pt 6):514-6. doi: 10.1258/acb.2009.008254. Epub 2009 Oct 19.

PMID:
19841105
47.

The circulating concentration and ratio of total and high molecular weight adiponectin in post-menopausal women with and without osteoporosis and its association with body mass index and biochemical markers of bone metabolism.

Sodi R, Hazell MJ, Durham BH, Rees C, Ranganath LR, Fraser WD.

Clin Biochem. 2009 Sep;42(13-14):1375-80. doi: 10.1016/j.clinbiochem.2009.06.003. Epub 2009 Jun 10.

PMID:
19523465
48.

Effects of peripheral administration of synthetic human glucose-dependent insulinotropic peptide (GIP) on energy expenditure and subjective appetite sensations in healthy normal weight subjects and obese patients with type 2 diabetes.

Daousi C, Wilding JP, Aditya S, Durham BH, Cleator J, Pinkney JH, Ranganath LR.

Clin Endocrinol (Oxf). 2009 Aug;71(2):195-201. doi: 10.1111/j.1365-2265.2008.03451.x. Epub 2008 Oct 20.

PMID:
19178509
49.

Incretins: pathophysiological and therapeutic implications of glucose-dependent insulinotropic polypeptide and glucagon-like peptide-1.

Ranganath LR.

J Clin Pathol. 2008 Apr;61(4):401-9. doi: 10.1136/jcp.2006.043232. Review.

PMID:
18375745
50.

The association between cysteine, bone turnover, and low bone mass.

Baines M, Kredan MB, Davison A, Higgins G, West C, Fraser WD, Ranganath LR.

Calcif Tissue Int. 2007 Dec;81(6):450-4. Epub 2007 Dec 4.

PMID:
18058053

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