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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1958 1
1966 1
1969 1
1970 1
1974 1
1975 1
1979 1
1982 1
1983 1
1986 1
1988 1
1989 1
1994 1
1996 2
1999 2
2002 1
2003 4
2004 2
2005 3
2007 2
2008 4
2009 4
2010 5
2011 5
2013 3
2014 5
2015 9
2016 7
2017 3
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2022 9
2023 5
2024 0

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98 results

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Page 1
Alkaptonuria.
Yancovitz M, Anolik R, Pomeranz MK. Yancovitz M, et al. Dermatol Online J. 2010 Nov 15;16(11):6. Dermatol Online J. 2010. PMID: 21163157 Free article.
Urine homogentisic acid level was elevated, which is diagnostic for alkaptonuria. Alkaptonuria is an autosomal recessive disorder that results in deficiency of homogentisic acid oxidase and in the accumulation of homogentisic acid in connective tissue. ...
Urine homogentisic acid level was elevated, which is diagnostic for alkaptonuria. Alkaptonuria is an autosomal recessive disor …
Cardiovascular ochronosis.
Ather N, Roberts WC. Ather N, et al. Cardiovasc Pathol. 2020 Sep-Oct;48:107219. doi: 10.1016/j.carpath.2020.107219. Epub 2020 Mar 7. Cardiovasc Pathol. 2020. PMID: 32473412 Review.
Total Knee Replacement in Alkaptonuric Ochronosis.
Pesciallo C, Garabano G, Rodriguez J, Viale G, Tillet F, Del Sel H. Pesciallo C, et al. Acta Biomed. 2022 Jun 7;93(S1):e2022108. doi: 10.23750/abm.v92iS1.10439. Acta Biomed. 2022. PMID: 35671127 Free PMC article.
BACKGROUND AND OBJECTIVE: Alkaptonuria is a rare disease characterized by the accumulation of homogentisic acid (HGA). ...The other presented with valgus gonoarthrosis and diagnosis of alkaptonuria. RESULTS: Intraoperatively, the characteristic dark-blue color in th …
BACKGROUND AND OBJECTIVE: Alkaptonuria is a rare disease characterized by the accumulation of homogentisic acid (HGA). ...The other p …
Medical histories.
Dance A. Dance A. Nature. 2016 Sep 8;537(7619):S52-3. doi: 10.1038/537S52a. Nature. 2016. PMID: 27602739 No abstract available.
Suitability of nitisinone for alkaptonuria.
Häberle J. Häberle J. Lancet Diabetes Endocrinol. 2020 Sep;8(9):732-733. doi: 10.1016/S2213-8587(20)30222-9. Epub 2020 Aug 18. Lancet Diabetes Endocrinol. 2020. PMID: 32822593 Review. No abstract available.
Endogenous ochronosis.
Turgay E, Canat D, Gurel MS, Yuksel T, Baran MF, Demirkesen C. Turgay E, et al. Clin Exp Dermatol. 2009 Dec;34(8):e865-8. doi: 10.1111/j.1365-2230.2009.03618.x. Clin Exp Dermatol. 2009. PMID: 20055850
Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism that is caused by a deficiency of the enzyme homogentisic acid oxidase. ...
Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism that is caused by a deficiency of …
Acute fatal metabolic complications in alkaptonuria.
Davison AS, Milan AM, Gallagher JA, Ranganath LR. Davison AS, et al. J Inherit Metab Dis. 2016 Mar;39(2):203-10. doi: 10.1007/s10545-015-9902-0. Epub 2015 Nov 23. J Inherit Metab Dis. 2016. PMID: 26596578 Review.
Alkaptonuria (AKU) is a rare inherited metabolic disorder of tyrosine metabolism that results from a defect in an enzyme called homogentisate 1,2-dioxygenase. ...
Alkaptonuria (AKU) is a rare inherited metabolic disorder of tyrosine metabolism that results from a defect in an enzyme called homog …
Alkaptonuria in an adolescent boy.
Sangeetha G, Chandran S, Ganesan S, Jayaraj J. Sangeetha G, et al. BMJ Case Rep. 2021 Feb 4;14(2):e240147. doi: 10.1136/bcr-2020-240147. BMJ Case Rep. 2021. PMID: 33541951 Free PMC article.
Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. ...Examination revealed bluish black discolouration of bilateral sclera and ear cartilage; however, he had no symptoms of ochronotic osteoarthropathy. Genetic test pointed towards a …
Alkaptonuria is a rare genetic disorder resulting in abnormality of tyrosine metabolism. ...Examination revealed bluish black discolo …
98 results