- Focal Ligamentum Flavum Hypertrophy with Ochronotic Deposits: An Unusual Cause for Neurogenic Claudication in Alkaptonuria
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Reddy R, Vijayasaradhi M, Biswal D
- KMID: 1743288
- Asian Spine J.
- 2012 Jun;6(2):148-151.
- doi: 10.4184/asj.2012.6.2.148
Neurogenic claudication resulting from focal hypertrophy of the ligamentum flavum in the lumbar spine due to ochronotic deposits has not been reported till date. The authors discuss one such case... -
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- Ochronotic Arthropathy: Degenerative and Complex Tear of Black Meniscus
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Yoon JR, Kim Y, Yu J, Yang JH
- KMID: 2185176
- J Korean Orthop Assoc.
- 2014 Oct;49(5):389-393.
- doi: 10.4055/jkoa.2014.49.5.389
In this report, a case of a black meniscus with underlying ochronosis is described. Further analysis by laboratory findings showed that the patient had underlying alkaptonuria, which was previously undiagnosed.... -
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- A case of alkaptonuria: the first case in Korea
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Nam JH, Lee JH, Park KB, Lee DH
- KMID: 2278594
- Korean J Pediatr.
- 2006 Mar;49(3):329-331.
- doi: 10.3345/kjp.2006.49.3.329
Alkaptonuria is a rare metabolic disease in which homogentisic acid cannot be metabolized due to a lack of the enzyme homogentisic acid oxidase. The disease often manifests itself in childhood... -
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- Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases
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Cho SY, Kim JH
- KMID: 2435967
- J Genet Med.
- 2018 Jun;15(1):17-19.
- doi: 10.5734/JGM.2018.15.1.17
Alkaptonuria (AKU, OMIM: 203500) is a rare autosomal recessive disorder of tyrosine metabolism due to a defect of enzyme activity, homogentisate 1,2-dioxygenase (HGD). The patients with AKU initially presented with... -
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- Cervical Spondylotic Myelopathy due to the Ochronotic Arthropathy of the Cervical Spine
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Li N, Tian W, Yuan Q, He D
- KMID: 2152921
- J Korean Neurosurg Soc.
- 2016 Jan;59(1):65-68.
- doi: 10.3340/jkns.2016.59.1.65
Ochronosis is a musculoskeletal manifestation of alkaptonuria, a rare hereditary metabolic disorder occurs due to the absence of homogentisic acid oxidase and leading to various systemic abnormalities related to deposition... -
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