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Results: 1 to 20 of 52

1.

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
[PubMed - indexed for MEDLINE]
2.

Black and white: alkaptonuria and gout.

Boumans D, Haagsma CJ.

Rheumatology (Oxford). 2013 Sep;52(9):1700. doi: 10.1093/rheumatology/ket235. Epub 2013 Jul 11. No abstract available.

PMID:
23847272
[PubMed - indexed for MEDLINE]
3.

Antioxidants inhibit SAA formation and pro-inflammatory cytokine release in a human cell model of alkaptonuria.

Spreafico A, Millucci L, Ghezzi L, Geminiani M, Braconi D, Amato L, Chellini F, Frediani B, Moretti E, Collodel G, Bernardini G, Santucci A.

Rheumatology (Oxford). 2013 Sep;52(9):1667-73. doi: 10.1093/rheumatology/ket185. Epub 2013 May 23.

PMID:
23704321
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Not just simple degenerative disc disease (alkaptonuria).

Chakraverty JK, Lawson TM, Herdman G.

Spine J. 2013 Aug;13(8):985-6. doi: 10.1016/j.spinee.2013.03.007. Epub 2013 May 3. No abstract available.

PMID:
23647826
[PubMed - indexed for MEDLINE]
5.

Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.

Zouheir Habbal M, Bou Assi T, Mansour H.

BMJ Case Rep. 2013 Apr 29;2013. pii: bcr2012008491. doi: 10.1136/bcr-2012-008491.

PMID:
23632174
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
23619548
[PubMed - indexed for MEDLINE]
Free Article
7.

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
[PubMed - indexed for MEDLINE]
8.

Aortic valve replacement for aortic stenosis caused by alkaptonuria.

Hiroyoshi J, Saito A, Panthee N, Imai Y, Kawashima D, Motomura N, Ono M.

Ann Thorac Surg. 2013 Mar;95(3):1076-9. doi: 10.1016/j.athoracsur.2012.07.058.

PMID:
23438536
[PubMed - indexed for MEDLINE]
9.

First report of HGD mutations in a Chinese with alkaptonuria.

Yang YJ, Guo JH, Chen WJ, Zhao R, Tang JS, Meng XH, Zhao L, Tu M, He XY, Wu LQ, Zhu YM.

Gene. 2013 Apr 15;518(2):467-9. doi: 10.1016/j.gene.2013.01.020. Epub 2013 Jan 24.

PMID:
23353776
[PubMed - indexed for MEDLINE]
10.

Simultaneous detection of diagnostic biomarkers of alkaptonuria, ornithine carbamoyltransferase deficiency, and neuroblastoma disease by high-performance liquid chromatography/tandem mass spectrometry.

Hsu WY, Chen CM, Tsai FJ, Lai CC.

Clin Chim Acta. 2013 May;420:140-5. doi: 10.1016/j.cca.2012.10.022. Epub 2012 Oct 16.

PMID:
23085206
[PubMed - indexed for MEDLINE]
11.

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. doi: 10.1016/j.bbadis.2012.07.011. Epub 2012 Jul 28.

PMID:
22850426
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

T1 hyperintense disc in alkaptonuria.

Sag AA, Silbergleit R, Olson RE, Wilson J, Krishnan A.

Spine (Phila Pa 1976). 2012 Oct 1;37(21):E1361-3.

PMID:
22772574
[PubMed - indexed for MEDLINE]
13.

Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria.

Magesh R, George Priya Doss C.

ScientificWorldJournal. 2012;2012:738423. doi: 10.1100/2012/738423. Epub 2012 Apr 19.

PMID:
22606059
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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. Epub 2012 Mar 24. Review.

PMID:
22447274
[PubMed - indexed for MEDLINE]
15.

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. doi: 10.1002/jcp.24033.

PMID:
22213341
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Identification of forty cases with alkaptonuria in one village in Jordan.

Al-Sbou M, Mwafi N, Lubad MA.

Rheumatol Int. 2012 Dec;32(12):3737-40. doi: 10.1007/s00296-011-2219-x. Epub 2011 Nov 16.

PMID:
22147108
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
22127706
[PubMed - indexed for MEDLINE]
Free Article
18.

Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.

Laschi M, Tinti L, Braconi D, Millucci L, Ghezzi L, Amato L, Selvi E, Spreafico A, Bernardini G, Santucci A.

J Cell Physiol. 2012 Sep;227(9):3254-7. doi: 10.1002/jcp.24018.

PMID:
22105303
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Aortic stenosis and vascular calcifications in alkaptonuria.

Hannoush H, Introne WJ, Chen MY, Lee SJ, O'Brien K, Suwannarat P, Kayser MA, Gahl WA, Sachdev V.

Mol Genet Metab. 2012 Feb;105(2):198-202. doi: 10.1016/j.ymgme.2011.10.017. Epub 2011 Oct 30.

PMID:
22100375
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Living with alkaptonuria.

Laxon S, Ranganath L, Timmis O.

BMJ. 2011 Sep 29;343:d5155. doi: 10.1136/bmj.d5155. No abstract available.

PMID:
21964346
[PubMed - indexed for MEDLINE]

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