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Items: 13

1.
Ochronotic arthropathy effectively treated with total hip and total knee arthroplasty: a case report
Yikai Liu, Chenkai Li, Zian Zhang, Xinzhe Lu, Haining Zhang
Front Med (Lausanne) 2023; 10: 1212580. Published online 2023 Sep 19. doi: 10.3389/fmed.2023.1212580
PMCID:
PMC10546056
AbstractArticlePDF–4.9M
2.
Development of an Effective Therapy for Alkaptonuria – Lessons for Osteoarthritis
James A. Gallagher, Jane P. Dillon, Lakshminarayan R. Ranganath
Rheumatol Immunol Res. 2021 Jun; 2(2): 79–85. Published online 2021 Sep 28. doi: 10.2478/rir-2021-0011
PMCID:
PMC9524786
AbstractArticlePDF–1.3M
3.
Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism
Brendan P. Norman, Andrew S. Davison, Juliette H. Hughes, Hazel Sutherland, Peter JM. Wilson, Neil G. Berry, Andrew T. Hughes, Anna M. Milan, Jonathan C. Jarvis, Norman B. Roberts, Lakshminarayan R. Ranganath, George Bou-Gharios, James A. Gallagher
Genes Dis. 2022 Jul; 9(4): 1129–1142. Published online 2021 Feb 22. doi: 10.1016/j.gendis.2021.02.007
PMCID:
PMC9170613
AbstractArticlePDF–2.6M
4.
A novel deep intronic variant strongly associates with Alkaptonuria
Chien-Yi Lai, I-Jung Tsai, Pao-Chin Chiu, David B. Ascher, Yin-Hsiu Chien, Yu-Hsuan Huang, Yi-Lin Lin, Wuh-Liang Hwu, Ni-Chung Lee
NPJ Genom Med. 2021; 6: 89. Published online 2021 Oct 22. doi: 10.1038/s41525-021-00252-2
PMCID:
PMC8536767
AbstractArticlePDF–1.8M
5.
Black Aortic Valve: Incidental Finding of Alkaptonuria
Christina Putz, Franz Josef Putz, Andreas Keyser, Christof Schmid
Thorac Cardiovasc Surg Rep. 2021 Jan; 10(1): e39–e41. Published online 2021 Jun 27. doi: 10.1055/s-0041-1728721
PMCID:
PMC8236329
AbstractArticlePDF–254K
6.
Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review
Héctor Cruz-Camino, Diana Laura Vazquez-Cantu, Alexandra Vanessa Zea-Rey, Jaime López-Valdez, Jorge Jiménez-Lozano, René Gómez-Gutiérrez, Consuelo Cantú-Reyna
J Int Med Res. 2020 Feb; 48(2): 0300060519863543. Published online 2019 Jul 25. doi: 10.1177/0300060519863543
PMCID:
PMC7581980
AbstractArticlePDF–455K
7.
Total knee arthroplasty in ochronosis
Vaibhav G. Patel
Arthroplasty Today. 2015 Sep; 1(3): 77–80. Published online 2015 Aug 28. doi: 10.1016/j.artd.2015.03.003
PMCID:
PMC4956685
AbstractArticlePDF–1.5M
8.
Fatal oxidative haemolysis and methaemoglobinaemia in a patient with alkaptonuria and acute kidney injury
Adam Mullan, Derek Cocker, Gordon Taylor, Colin Millar, Lakshminarayan Ranganath
Clin Kidney J. 2015 Feb; 8(1): 109–112. Published online 2014 Nov 17. doi: 10.1093/ckj/sfu121
PMCID:
PMC4310424
AbstractArticlePDF–238K
9.
Alkaptonuria: Leading to the Treasure in Exceptions
Timothy M. Cox
JIMD Rep. 2012; 5: 49–57. Published online 2011 Dec 6. doi: 10.1007/8904_2011_93
PMCID:
PMC3509923
AbstractArticlePDF–159K
10.
Aortic valve ochronosis: a rare manifestation of alkaptonuria
Christina Maria Steger
BMJ Case Rep. 2011; 2011: bcr0420114119. Published online 2011 Jul 29. doi: 10.1136/bcr.04.2011.4119
PMCID:
PMC3149459
AbstractArticlePDF–684K
11.
Perioperative management of patient with alkaptonuria and associated multiple comorbidities
Ravindra Pandey, Anil Kumar, Rakesh Garg, Puneet Khanna, Vanlal Darlong
J Anaesthesiol Clin Pharmacol. 2011 Apr-Jun; 27(2): 259–261. doi: 10.4103/0970-9185.81839
PMCID:
PMC3127314
AbstractArticlePDF–206K
12.
DNA ploidy abnormalities in the liver of children with hereditary tyrosinemia type I. Correlation with histopathologic features.
C. Zerbini, D. S. Weinberg, K. A. Hollister, A. R. Perez-Atayde
Am J Pathol. 1992 May; 140(5): 1111–1119.
PMCID:
PMC1886502
SummaryPage BrowsePDF–2.4M
13.
Catecholamine metabolite excretion in spina bifida
B. McKibbin, L. O'Gorman, T. Duckworth
J Clin Pathol. 1969 Nov; 22(6): 687–689. doi: 10.1136/jcp.22.6.687
PMCID:
PMC474361
SummaryPage BrowsePDF–412K

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