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Items: 1 to 20 of 94

1.

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. Review.

PMID:
26891864
2.

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. Review.

PMID:
26596578
3.

Renal and prostate stones composition in alkaptonuria: a case report.

Wolff F, Biaou I, Koopmansch C, Vanden Bossche M, Pozdzik A, Roumeguère T, Cotton F.

Clin Nephrol. 2015 Dec;84(6):339-42. doi: 10.5414/CN108608. Review.

PMID:
26396096
4.

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. Review.

PMID:
25978274
5.

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. doi: 10.1007/s10545-015-9842-8. Review.

PMID:
25868666
6.

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;38(5):791-6. doi: 10.1007/s10545-015-9844-6. Review.

PMID:
25860819
7.

Oxidative stress and mechanisms of ochronosis in alkaptonuria.

Braconi D, Millucci L, Bernardini G, Santucci A.

Free Radic Biol Med. 2015 Nov;88(Pt A):70-80. doi: 10.1016/j.freeradbiomed.2015.02.021. Review.

PMID:
25733348
8.

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
9.

[Severe osteoarthritic manifestations of ochronosis].

Lange U, Müller-Ladner U, Dischereit G.

Z Rheumatol. 2014 Jun;73(5):420-3. doi: 10.1007/s00393-013-1343-2. Review. German.

PMID:
24924728
10.

Alkaptonuria: a very rare metabolic disorder.

Aquaron R.

Indian J Biochem Biophys. 2013 Oct;50(5):339-44. Review.

PMID:
24772955
11.

Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review.

Ventura-Ríos L, Hernández-Díaz C, Gutiérrez-Pérez L, Bernal-González A, Pichardo-Bahena R, Cedeño-Garcidueñas AL, Pineda C.

Clin Rheumatol. 2016 May;35(5):1389-95. doi: 10.1007/s10067-014-2557-7. Review.

PMID:
24647979
12.

On the ocular findings in ochronosis: a systematic review of literature.

Lindner M, Bertelmann T.

BMC Ophthalmol. 2014 Jan 30;14:12. doi: 10.1186/1471-2415-14-12. Review.

13.

Redox proteomics gives insights into the role of oxidative stress in alkaptonuria.

Braconi D, Millucci L, Ghezzi L, Santucci A.

Expert Rev Proteomics. 2013 Dec;10(6):521-35. doi: 10.1586/14789450.2013.858020. Review.

PMID:
24206226
14.

Alkaptonuria-associated aortic stenosis.

Lok ZS, Goldstein J, Smith JA.

J Card Surg. 2013 Jul;28(4):417-20. doi: 10.1111/jocs.12129. Review.

PMID:
23879342
15.

Alkaptonuric patient presenting with "black" disc: a case report.

Kahveci R, Ergüngör MF, Günaydin A, Temiz A.

Acta Orthop Traumatol Turc. 2013;47(2):134-8. Review.

16.

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. Review.

PMID:
23486607
17.

Occurrence of tendon pathologies in metabolic disorders.

Abate M, Schiavone C, Salini V, Andia I.

Rheumatology (Oxford). 2013 Apr;52(4):599-608. doi: 10.1093/rheumatology/kes395. Review.

PMID:
23315787
18.

Lumbar disc herniation in a patient of alkaptonuria: case report and review of literature.

Krishnan P, Chowdhury SR.

Neurol India. 2012 Nov-Dec;60(6):667-9. doi: 10.4103/0028-3886.105218. Review. No abstract available.

19.

Ochronotic arthropathy: diagnosis and management: a critical review.

Drakoulakis E, Varvitsiotis D, Psarea G, Feroussis J.

Am J Orthop (Belle Mead NJ). 2012 Feb;41(2):80-3. Review.

PMID:
22482092
20.

Shoulder arthroplasty in alkaptonuric arthropathy: a clinical case report and literature review.

Merolla G, Dave AC, Pegreffi F, Belletti L, Porcellini G.

Musculoskelet Surg. 2012 May;96 Suppl 1:S93-9. doi: 10.1007/s12306-012-0184-5. Review.

PMID:
22447274

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