- 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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- 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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- 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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