- Original Article
- A case of homocystinuria.
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Kang Seo Park, Kyu Sun Choi, Young Tack Jang, Hong Cheul Lee, Chun Hee Lee
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Clin Exp Pediatr. 1991;34(4):566-572. Published online April 30, 1991
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Homocystinuria caused by cystathionine B-synthetase deficiency is characterized biochemically by
increased concentration of homocystine and methionine, decreased concentration of cystine in plasma
and urine. The manifestation of this rare disorder include skeletal abnormalities, a high incidence of
thromboembolism, ectopia lentis, and a high frequency of mental retardation.
We experienced a case of homocystinuria in a 10-year-old female patient who had mental retarda-
tion, ectopia lentis,... |
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