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Results: 1 to 20 of 429

1.

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;54(6):719-28.

PMID:
15931605
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
12501223
[PubMed - indexed for MEDLINE]
Free Article
3.

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.

Mol Genet Metab. 2011 Aug;103(4):307-14. doi: 10.1016/j.ymgme.2011.04.016. Epub 2011 May 6.

PMID:
21620748
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria.

Suzuki Y, Oda K, Yoshikawa Y, Maeda Y, Suzuki T.

J Hum Genet. 1999;44(2):79-84.

PMID:
10083729
[PubMed - indexed for MEDLINE]
5.

Alkaptonuria.

Yancovitz M, Anolik R, Pomeranz MK.

Dermatol Online J. 2010 Nov 15;16(11):6.

PMID:
21163157
[PubMed - indexed for MEDLINE]
Free Article
6.

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
[PubMed - indexed for MEDLINE]
7.

Alkaptonuria and ochronosis in three siblings. Ascorbic acid treatment monitored by urinary HGA excretion.

Forslind K, Wollheim FA, Akesson B, Rydholm U.

Clin Exp Rheumatol. 1988 Jul-Sep;6(3):289-92.

PMID:
3180550
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

NTBC and alkaptonuria.

Anikster Y, Nyhan WL, Gahl WA.

Am J Hum Genet. 1998 Sep;63(3):920-1. No abstract available.

PMID:
9718357
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.

Introne WJ, Phornphutkul C, Bernardini I, McLaughlin K, Fitzpatrick D, Gahl WA.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):136-42.

PMID:
12359141
[PubMed - indexed for MEDLINE]
11.

A metabolic cause of spinal deformity.

Effelsberg NM, Hügle T, Walker UA.

Metabolism. 2010 Jan;59(1):140-3. doi: 10.1016/j.metabol.2009.06.034. Epub 2009 Sep 17.

PMID:
19765774
[PubMed - indexed for MEDLINE]
12.

A quantitative assessment of alkaptonuria: testing the reliability of two disease severity scoring systems.

Cox TF, Ranganath L.

J Inherit Metab Dis. 2011 Dec;34(6):1153-62. doi: 10.1007/s10545-011-9367-8. Epub 2011 Jul 9.

PMID:
21744089
[PubMed - indexed for MEDLINE]
13.

Nitisinone in the treatment of hereditary tyrosinaemia type 1.

McKiernan PJ.

Drugs. 2006;66(6):743-50.

PMID:
16706549
[PubMed - indexed for MEDLINE]
14.

Nitisinone: new drug. Type 1 tyrosinemia: an effective drug.

[No authors listed]

Prescrire Int. 2007 Apr;16(88):56-8.

PMID:
17458044
[PubMed - indexed for MEDLINE]
15.

Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.

Suwannarat P, Phornphutkul C, Bernardini I, Turner M, Gahl WA.

Arthritis Rheum. 2004 Nov;50(11):3698-701.

PMID:
15529343
[PubMed - indexed for MEDLINE]
Free Article
16.

Alkaptonuria: a very rare metabolic disorder.

Aquaron R.

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

PMID:
24772955
[PubMed - indexed for MEDLINE]
17.

Alkaptonuria.

Lorenzini S, Mannoni A, Selvi E.

N Engl J Med. 2003 Apr 3;348(14):1408; author reply 1408. No abstract available.

PMID:
12672874
[PubMed - indexed for MEDLINE]
Free Article
18.

Response of metastatic recurrent neuroblastoma to nitisinone: a modulator of tyrosine metabolism.

Kobrinsky NL, Sjolander DE.

Pediatr Blood Cancer. 2006 Apr;46(4):517-20.

PMID:
15940725
[PubMed - indexed for MEDLINE]
19.

Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.

Fisher AA, Davis MW.

Clin Med Res. 2004 Nov;2(4):209-15. Review.

PMID:
15931360
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Ashy ears.

Rallis E, Kintzoglou S.

ScientificWorldJournal. 2010 Aug 3;10:1530-1. doi: 10.1100/tsw.2010.147.

PMID:
20694448
[PubMed - indexed for MEDLINE]
Free Article

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